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Items: 1 to 100 of 189

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:7584563
GRCh38:
Chr6:7584330
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Jul 1, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr6:7571639
GRCh38:
Chr6:7571406
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Nov 3, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr6:7585694
GRCh38:
Chr6:7585461
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(May 22, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr6:7583291
GRCh38:
Chr6:7583058
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Apr 18, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr6:7584248
GRCh38:
Chr6:7584015
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Aug 2, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr6:7571663
GRCh38:
Chr6:7571430
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(May 15, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr6:7583702
GRCh38:
Chr6:7583469
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Aug 10, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr6:7558438
GRCh38:
Chr6:7558205
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Nov 24, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr6:7583855
GRCh38:
Chr6:7583622
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Jul 4, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr6:7576618
GRCh38:
Chr6:7576385
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Dec 29, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr6:7558477
GRCh38:
Chr6:7558244
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Nov 4, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:7569412
GRCh38:
Chr6:7569179
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Jul 9, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr6:7577194
GRCh38:
Chr6:7576961
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Jan 5, 2017)
criteria provided, single submitter
14.
GRCh37:
Chr6:7585682
GRCh38:
Chr6:7585449
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Oct 27, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr6:7563971
GRCh38:
Chr6:7563738
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Dec 19, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr6:7585724
GRCh38:
Chr6:7585491
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Oct 3, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr6:7580743
GRCh38:
Chr6:7580510
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Benign
(Dec 5, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr6:7566625
GRCh38:
Chr6:7566392
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jun 13, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr6:7583427
GRCh38:
Chr6:7583194
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 30, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr6:7559533
GRCh38:
Chr6:7559300
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 26, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr6:7580322
GRCh38:
Chr6:7580089
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Sep 5, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr6:7575693
GRCh38:
Chr6:7575460
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Dec 25, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr6:7579760
GRCh38:
Chr6:7579527
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Apr 12, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr6:7580072
GRCh38:
Chr6:7579839
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 12, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr6:7584260
GRCh38:
Chr6:7584027
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Aug 3, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr6:7572208
GRCh38:
Chr6:7571975
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Aug 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr6:7565736
GRCh38:
Chr6:7565503
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 13, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr6:7585184-7585189
GRCh38:
Chr6:7584951-7584956
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Oct 12, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr6:7578067
GRCh38:
Chr6:7577834
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jul 18, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr6:7576576
GRCh38:
Chr6:7576343
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Sep 21, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr6:7585977
GRCh38:
Chr6:7585744
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jul 26, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr6:7586019
GRCh38:
Chr6:7585786
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 8, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr6:7571797
GRCh38:
Chr6:7571564
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Dec 13, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr6:7585510
GRCh38:
Chr6:7585277
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr6:7580944
GRCh38:
Chr6:7580711
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Sep 23, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr6:7581245
GRCh38:
Chr6:7581012
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Nov 26, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr6:7569418
GRCh38:
Chr6:7569185
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Likely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr6:7583175-7583178
GRCh38:
Chr6:7582942-7582945
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Dec 20, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr6:7585928
GRCh38:
Chr6:7585695
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 17, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr6:7585410
GRCh38:
Chr6:7585177
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 8, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr6:7585029
GRCh38:
Chr6:7584796
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jun 9, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr6:7580988
GRCh38:
Chr6:7580755
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(May 20, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr6:7580469
GRCh38:
Chr6:7580236
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Aug 25, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr6:7579953
GRCh38:
Chr6:7579720
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Oct 29, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr6:7580268
GRCh38:
Chr6:7580035
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 27, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr6:7568700
GRCh38:
Chr6:7568467
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jul 18, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr6:7583240
GRCh38:
Chr6:7583007
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Pathogenic
(Jun 23, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr6:7569561
GRCh38:
Chr6:7569328
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jun 11, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr6:7568098
GRCh38:
Chr6:7567865
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jul 15, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr6:7581596
GRCh38:
Chr6:7581363
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Uncertain significance
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:7567688
GRCh38:
Chr6:7567455
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Conflicting interpretations of pathogenicity
(Sep 4, 2016)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr6:7580266
GRCh38:
Chr6:7580033
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Likely benign
(May 10, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:7576599
GRCh38:
Chr6:7576366
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 4, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr6:7559515
GRCh38:
Chr6:7559282
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Uncertain significance
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr6:7585043
GRCh38:
Chr6:7584810
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiomyopathy, ARVC
Benign/Likely benign
(Dec 8, 2016)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr6:7583533
GRCh38:
Chr6:7583300
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:7583088
GRCh38:
Chr6:7582855
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:7579569
GRCh38:
Chr6:7579336
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiomyopathy, ARVC
Uncertain significance
(Sep 12, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:7576615
GRCh38:
Chr6:7576382
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, Cardiomyopathy, ARVC
Uncertain significance
(Oct 12, 2016)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:7574969
GRCh38:
Chr6:7574736
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, Cardiomyopathy, ARVC
Uncertain significance
(Jul 16, 2016)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:7569468
GRCh38:
Chr6:7569235
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, Cardiomyopathy, ARVC
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr6:7576579
GRCh38:
Chr6:7576346
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Uncertain significance
(Dec 30, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr6:7556048
GRCh38:
Chr6:7555815
DSPArrhythmogenic right ventricular cardiomyopathy, type 8, not providedPathogenic/Likely pathogenic
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:7580300
GRCh38:
Chr6:7580067
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Cardiovascular phenotype
Uncertain significance
(May 31, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr6:7565651
GRCh38:
Chr6:7565418
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Feb 24, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr6:7585665
GRCh38:
Chr6:7585432
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jan 23, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr6:7585572-7585575
GRCh38:
Chr6:7585339-7585342
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Feb 1, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr6:7585514
GRCh38:
Chr6:7585281
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiovascular phenotype, Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Dec 29, 2016)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr6:7585142
GRCh38:
Chr6:7584909
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Mar 7, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr6:7585047
GRCh38:
Chr6:7584814
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jan 1, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr6:7584667
GRCh38:
Chr6:7584434
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Dec 19, 2015)
criteria provided, single submitter
72.
GRCh37:
Chr6:7585076
GRCh38:
Chr6:7584843
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Mar 19, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr6:7584257
GRCh38:
Chr6:7584024
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Dec 22, 2015)
criteria provided, single submitter
74.
GRCh37:
Chr6:7583910
GRCh38:
Chr6:7583677
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jan 1, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr6:7583201
GRCh38:
Chr6:7582968
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Jan 7, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr6:7583192
GRCh38:
Chr6:7582959
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Nov 10, 2015)
criteria provided, single submitter
77.
GRCh37:
Chr6:7581093
GRCh38:
Chr6:7580860
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Feb 1, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr6:7580596
GRCh38:
Chr6:7580363
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Feb 15, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr6:7580228
GRCh38:
Chr6:7579995
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Mar 28, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr6:7580163
GRCh38:
Chr6:7579930
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr6:7579935
GRCh38:
Chr6:7579702
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Mar 8, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr6:7579561
GRCh38:
Chr6:7579328
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Likely benign
(Mar 27, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr6:7578715
GRCh38:
Chr6:7578482
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Oct 12, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr6:7569481
GRCh38:
Chr6:7569248
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified,
Cardiovascular phenotype
Likely benign
(May 9, 2016)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:7568027
GRCh38:
Chr6:7567794
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, Cardiomyopathy, ARVC
Likely benign
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr6:7567645
GRCh38:
Chr6:7567412
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Feb 11, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr6:7575637
GRCh38:
Chr6:7575404
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Uncertain significance
(Nov 22, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr6:7585988
GRCh38:
Chr6:7585755
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Conflicting interpretations of pathogenicity
(Sep 14, 2016)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr6:7579726
GRCh38:
Chr6:7579493
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiovascular phenotype, Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr6:7585419
GRCh38:
Chr6:7585186
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Primary familial hypertrophic cardiomyopathy,
not specified
Uncertain significance
(Jul 10, 2016)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr6:7579557
GRCh38:
Chr6:7579324
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ventricular fibrillation
Uncertain significance
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr6:7558346
GRCh38:
Chr6:7558113
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Uncertain significance
(Jul 17, 2014)
no assertion criteria provided
93.
GRCh37:
Chr6:7581590-7581592
GRCh38:
Chr6:7581357-7581359
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Primary familial hypertrophic cardiomyopathy,
not specified
Uncertain significance
(Jan 9, 2017)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr6:7583814
GRCh38:
Chr6:7583581
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Uncertain significance
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr6:7580158-7580164
GRCh38:
Chr6:7579925-7579931
DSPArrhythmogenic right ventricular cardiomyopathy, type 8, not providedPathogenic
(Oct 17, 2016)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr6:7565742
GRCh38:
Chr6:7565509
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Epidermolysis bullosa, lethal acantholytic,
Skin fragility woolly hair syndrome, Keratosis palmoplantaris striata II, not provided,
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Pathogenic/Likely pathogenic
(Jun 6, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr6:7583743
GRCh38:
Chr6:7583510
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not provided
Uncertain significance
(May 26, 2016)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr6:7581384
GRCh38:
Chr6:7581151
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, not specified
Conflicting interpretations of pathogenicity
(Jun 23, 2016)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr6:7576670
GRCh38:
Chr6:7576437
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Ectodermal dysplasia skin fragility syndrome,
Epidermolysis bullosa, lethal acantholytic, Skin fragility woolly hair syndrome, not specified,
Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Oct 25, 2016)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr6:7580039
GRCh38:
Chr6:7579806
DSPCardiomyopathy dilated with woolly hair and keratoderma, Arrhythmogenic right ventricular cardiomyopathy, type 8, Arrhythmogenic right ventricular cardiomyopathy,
not specified
Conflicting interpretations of pathogenicity
(Nov 26, 2016)
criteria provided, conflicting interpretations
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