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Items: 36

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:14166440-14185180
GRCh38:
Chr3:14124940-14143680
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Dec 27, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:14172426
GRCh38:
Chr3:14130926
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Aug 31, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr3:14176277
GRCh38:
Chr3:14134777
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Dec 30, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr3:14175305
GRCh38:
Chr3:14133805
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Benign
(Sep 23, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr3:14176331
GRCh38:
Chr3:14134831
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Aug 22, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr3:14172316
GRCh38:
Chr3:14130816
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Benign
(Jul 11, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:14174420
GRCh38:
Chr3:14132920
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 18, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr3:14180782
GRCh38:
Chr3:14139282
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 18, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:14176702
GRCh38:
Chr3:14135202
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Jan 11, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr3:14172325
GRCh38:
Chr3:14130825
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 30, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr3:14177403
GRCh38:
Chr3:14135903
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 12, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr3:14175290
GRCh38:
Chr3:14133790
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Jul 10, 2016)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr3:14180777
GRCh38:
Chr3:14139277
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Cardiovascular phenotypeUncertain significance
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:14176378
GRCh38:
Chr3:14134878
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Jan 31, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr3:14174082
GRCh38:
Chr3:14132582
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Likely benign
(Mar 11, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr3:14171035
GRCh38:
Chr3:14129535
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr3:14177329
GRCh38:
Chr3:14135829
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Primary dilated cardiomyopathyUncertain significance
(Jan 17, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr3:14183233
GRCh38:
Chr3:14141733
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedConflicting interpretations of pathogenicity
(Sep 4, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr3:14177322
GRCh38:
Chr3:14135822
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, CardiomyopathyUncertain significance
(Oct 1, 2016)
criteria provided, single submitter
20.
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
21.
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
22.
GRCh37:
Chr3:14174102
GRCh38:
Chr3:14132602
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedLikely benign
(Nov 26, 2016)
criteria provided, multiple submitters, no conflicts
23.
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
24.
GRCh37:
Chr3:14183187
GRCh38:
Chr3:14141687
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype
Likely benign
(Jan 20, 2017)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr3:14172328
GRCh38:
Chr3:14130828
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not providedConflicting interpretations of pathogenicity
(Nov 23, 2015)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr3:14180750
GRCh38:
Chr3:14139250
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype,
Cardiomyopathy, ARVC
Conflicting interpretations of pathogenicity
(Dec 19, 2016)
criteria provided, conflicting interpretations
27.
GRCh37:
Chr3:14180744
GRCh38:
Chr3:14139244
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specifiedUncertain significance
(Oct 18, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:14180706
GRCh38:
Chr3:14139206
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype,
Cardiomyopathy, ARVC
Benign/Likely benign
(Jan 22, 2017)
criteria provided, multiple submitters, no conflicts
29.
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
30.
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
31.
GRCh37:
Chr3:14174077
GRCh38:
Chr3:14132577
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, not provided,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Jan 5, 2017)
criteria provided, conflicting interpretations
32.
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
33.
GRCh37:
Chr3:14183203
GRCh38:
Chr3:14141703
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, not provided
Conflicting interpretations of pathogenicity
(Dec 25, 2016)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr3:14183188
GRCh38:
Chr3:14141688
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, not specified, Cardiovascular phenotype
Benign
(Jan 22, 2017)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr3:14180731
GRCh38:
Chr3:14139231
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Cardiomyopathy, not specified,
Cardiovascular phenotype, Cardiomyopathy, ARVC
Benign/Likely benign
(Jan 23, 2017)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr3:14183165
GRCh38:
Chr3:14141665
TMEM43Arrhythmogenic right ventricular cardiomyopathy, type 5, Arrhythmogenic right ventricular cardiomyopathy, not provided
Pathogenic
(Feb 8, 2017)
criteria provided, multiple submitters, no conflicts
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