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Items: 1 to 100 of 206

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:14166490
GRCh38:
Chr3:14124990
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:14166504
GRCh38:
Chr3:14125004
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr3:14166519
GRCh38:
Chr3:14125019
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr3:14166540
GRCh38:
Chr3:14125040
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr3:14166552
GRCh38:
Chr3:14125052
TMEM43Cardiomyopathy, ARVCLikely benign
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr3:14166564
GRCh38:
Chr3:14125064
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:14166690
GRCh38:
Chr3:14125190
TMEM43Cardiovascular phenotypeUncertain significance
(Aug 3, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr3:14166692
GRCh38:
Chr3:14125192
TMEM43not specifiedLikely benign
(Dec 17, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr3:14170912
GRCh38:
Chr3:14129412
TMEM43not specifiedUncertain significance
(Aug 21, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr3:14170931
GRCh38:
Chr3:14129431
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:14170944
GRCh38:
Chr3:14129444
TMEM43not specifiedBenign/Likely benign
(Jul 10, 2014)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:14170950
GRCh38:
Chr3:14129450
TMEM43not specifiedLikely benign
(May 10, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr3:14170961
GRCh38:
Chr3:14129461
TMEM43not specifiedUncertain significance
(Oct 7, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr3:14170981
GRCh38:
Chr3:14129481
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype,
Cardiomyopathy, ARVC
Benign/Likely benign
(Jan 8, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:14170982-14170986
GRCh38:
Chr3:14129482-14129486
TMEM43not providedUncertain significance
(Apr 10, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr3:14170988
GRCh38:
Chr3:14129488
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr3:14170990
GRCh38:
Chr3:14129490
TMEM43Cardiovascular phenotypeUncertain significance
(May 17, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr3:14170995
GRCh38:
Chr3:14129495
TMEM43not specifiedLikely benign
(Jan 16, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr3:14170997
GRCh38:
Chr3:14129497
TMEM43not specifiedLikely benign
(Apr 10, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr3:14170998
GRCh38:
Chr3:14129498
TMEM43not specifiedUncertain significance
(Mar 22, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr3:14171020
GRCh38:
Chr3:14129520
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr3:14171035
GRCh38:
Chr3:14129535
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
23.
GRCh37:
Chr3:14171046
GRCh38:
Chr3:14129546
TMEM43not specifiedLikely benign
(Jul 17, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr3:14172308
GRCh38:
Chr3:14130808
TMEM43Cardiomyopathy, not specified, Cardiomyopathy, ARVC
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:14172316
GRCh38:
Chr3:14130816
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Benign
(Jul 11, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr3:14172319
GRCh38:
Chr3:14130819
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiomyopathy, ARVC
Benign/Likely benign
(Dec 6, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:14172321
GRCh38:
Chr3:14130821
TMEM43not specifiedUncertain significance
(Oct 20, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr3:14172323
GRCh38:
Chr3:14130823
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr3:14172325
GRCh38:
Chr3:14130825
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 30, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr3:14172328
GRCh38:
Chr3:14130828
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not providedConflicting interpretations of pathogenicity
(Nov 23, 2015)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr3:14172365
GRCh38:
Chr3:14130865
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
32.
GRCh37:
Chr3:14172366
GRCh38:
Chr3:14130866
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr3:14172373
GRCh38:
Chr3:14130873
TMEM43not specifiedUncertain significance
(May 18, 2012)
criteria provided, single submitter
34.
GRCh37:
Chr3:14172377
GRCh38:
Chr3:14130877
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
35.
GRCh37:
Chr3:14172381
GRCh38:
Chr3:14130881
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype,
Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Jan 16, 2017)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr3:14172403
GRCh38:
Chr3:14130903
TMEM43not specifiedUncertain significance
(Jun 6, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr3:14172405
GRCh38:
Chr3:14130905
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr3:14172412
GRCh38:
Chr3:14130912
TMEM43Emery-Dreifuss muscular dystrophy 7, autosomal dominantPathogenic
(Jun 1, 2011)
no assertion criteria provided
39.
GRCh37:
Chr3:14172426
GRCh38:
Chr3:14130926
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Aug 31, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr3:14172430
GRCh38:
Chr3:14130930
TMEM43not specified, Emery-Dreifuss muscular dystrophy 7, autosomal dominantConflicting interpretations of pathogenicity
(Oct 14, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr3:14172434
GRCh38:
Chr3:14130934
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr3:14172438
GRCh38:
Chr3:14130938
TMEM43not specified, Cardiomyopathy, ARVCConflicting interpretations of pathogenicity
(Jan 12, 2017)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr3:14172439
GRCh38:
Chr3:14130939
TMEM43not specifiedUncertain significance
(May 16, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr3:14172445
GRCh38:
Chr3:14130945
TMEM43not specifiedUncertain significance
(Apr 25, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr3:14172455
GRCh38:
Chr3:14130955
TMEM43not providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
46.
GRCh37:
Chr3:14172469
GRCh38:
Chr3:14130969
TMEM43not specifiedLikely benign
(Jul 18, 2012)
criteria provided, single submitter
47.
GRCh37:
Chr3:14173105
GRCh38:
Chr3:14131605
TMEM43not specified, not providedUncertain significance
(Jul 1, 2015)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr3:14173115
GRCh38:
Chr3:14131615
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr3:14173119
GRCh38:
Chr3:14131619
TMEM43not specifiedUncertain significance
(Nov 25, 2013)
criteria provided, single submitter
50.
GRCh37:
Chr3:14173126
GRCh38:
Chr3:14131626
TMEM43not specifiedUncertain significance
(Apr 19, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr3:14173128
GRCh38:
Chr3:14131628
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr3:14173129
GRCh38:
Chr3:14131629
TMEM43Cardiovascular phenotypeUncertain significance
(Dec 9, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr3:14173143
GRCh38:
Chr3:14131643
TMEM43not specifiedUncertain significance
(Jan 22, 2009)
no assertion criteria provided
54.
GRCh37:
Chr3:14173178
GRCh38:
Chr3:14131678
TMEM43not specifiedUncertain significance
(Jul 31, 2012)
criteria provided, single submitter
55.
GRCh37:
Chr3:14173190
GRCh38:
Chr3:14131690
TMEM43not specifiedBenign
(Mar 13, 2014)
criteria provided, single submitter
56.
GRCh37:
Chr3:14174052
GRCh38:
Chr3:14132552
TMEM43not specifiedLikely benign
(Apr 7, 2015)
criteria provided, single submitter
57.
GRCh37:
Chr3:14174055
GRCh38:
Chr3:14132555
TMEM43not specifiedLikely benign
(Mar 19, 2012)
criteria provided, single submitter
58.
GRCh37:
Chr3:14174063
GRCh38:
Chr3:14132563
TMEM43not specifiedUncertain significance
(Nov 25, 2013)
criteria provided, single submitter
59.
GRCh37:
Chr3:14174066
GRCh38:
Chr3:14132566
TMEM43not specifiedUncertain significance
(Sep 25, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr3:14174074-14174076
GRCh38:
Chr3:14132574-14132576
TMEM43not specifiedUncertain significance
(May 2, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr3:14174077
GRCh38:
Chr3:14132577
TMEM43not specifiedUncertain significance
(Mar 17, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr3:14174077
GRCh38:
Chr3:14132577
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, not provided,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(May 15, 2017)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr3:14174081
GRCh38:
Chr3:14132581
TMEM43not specified, Cardiovascular phenotypeUncertain significance
(Sep 10, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr3:14174082
GRCh38:
Chr3:14132582
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Mar 11, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr3:14174102
GRCh38:
Chr3:14132602
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedLikely benign
(Nov 26, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr3:14174357
GRCh38:
Chr3:14132857
TMEM43not specifiedBenign
(Mar 22, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr3:14174407
GRCh38:
Chr3:14132907
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype
Uncertain significance
(Nov 25, 2015)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:14174409-14174412
GRCh38:
Chr3:14132909-14132912
TMEM43not specifiedUncertain significance
(Jun 23, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr3:14174420
GRCh38:
Chr3:14132920
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 18, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr3:14174427
GRCh38:
Chr3:14132927
TMEM43not specified, Cardiovascular phenotype, Cardiomyopathy, ARVC
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr3:14174432
GRCh38:
Chr3:14132932
TMEM43not specifiedUncertain significance
(Apr 15, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr3:14174454
GRCh38:
Chr3:14132954
TMEM43not specifiedLikely benign
(Dec 22, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr3:14174454
GRCh38:
Chr3:14132954
TMEM43not specifiedBenigncriteria provided, single submitter
74.
GRCh37:
Chr3:14175230
GRCh38:
Chr3:14133730
TMEM43not specifiedUncertain significance
(Mar 9, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr3:14175242
GRCh38:
Chr3:14133742
TMEM43not specifiedBenign
(Mar 23, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr3:14175246
GRCh38:
Chr3:14133746
TMEM43not specifiedUncertain significance
(Sep 9, 2014)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr3:14175262
GRCh38:
Chr3:14133762
TMEM43not specified, Cardiovascular phenotype, Cardiomyopathy, ARVC
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr3:14175290
GRCh38:
Chr3:14133790
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jul 10, 2016)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr3:14175305
GRCh38:
Chr3:14133805
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Benign
(Sep 23, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr3:14175312
GRCh38:
Chr3:14133812
TMEM43not specifiedUncertain significance
(Mar 21, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr3:14176277
GRCh38:
Chr3:14134777
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Dec 30, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr3:14176311
GRCh38:
Chr3:14134811
TMEM43not specifiedUncertain significance
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr3:14176316
GRCh38:
Chr3:14134816
TMEM43not specifiedLikely benign
(Sep 12, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr3:14176330
GRCh38:
Chr3:14134830
TMEM43Long QT syndromeUncertain significance
(Oct 6, 2014)
no assertion criteria provided
85.
GRCh37:
Chr3:14176331
GRCh38:
Chr3:14134831
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Aug 22, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr3:14176344
GRCh38:
Chr3:14134844
TMEM43Primary familial hypertrophic cardiomyopathyLikely benign
(Sep 17, 2014)
no assertion criteria provided
87.
GRCh37:
Chr3:14176345
GRCh38:
Chr3:14134845
TMEM43not specifiedUncertain significance
(Feb 19, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr3:14176347
GRCh38:
Chr3:14134847
TMEM43not specifiedUncertain significance
(Sep 24, 2013)
criteria provided, single submitter
89.
GRCh37:
Chr3:14176378
GRCh38:
Chr3:14134878
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedConflicting interpretations of pathogenicity
(Jun 8, 2016)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr3:14176384
GRCh38:
Chr3:14134884
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype,
Cardiomyopathy, ARVC
Benign/Likely benign
(Dec 19, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr3:14176396
GRCh38:
Chr3:14134896
TMEM43not specifiedUncertain significance
(Dec 1, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr3:14176398
GRCh38:
Chr3:14134898
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedBenign/Likely benign
(Jan 18, 2017)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr3:14176670
GRCh38:
Chr3:14135170
TMEM43not specifiedUncertain significance
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr3:14176702
GRCh38:
Chr3:14135202
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Jan 11, 2017)
criteria provided, single submitter
95.
GRCh37:
Chr3:14176703
GRCh38:
Chr3:14135203
TMEM43not specifiedUncertain significance
(Sep 22, 2015)
criteria provided, single submitter
96.
GRCh37:
Chr3:14176729
GRCh38:
Chr3:14135229
TMEM43Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr3:14176748
GRCh38:
Chr3:14135248
TMEM43not specifiedBenign
(Apr 27, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr3:14177294
GRCh38:
Chr3:14135794
TMEM43not specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr3:14177322
GRCh38:
Chr3:14135822
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, CardiomyopathyUncertain significance
(Oct 1, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr3:14177323
GRCh38:
Chr3:14135823
TMEM43Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, ARVCUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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