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Items: 1 to 100 of 113

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:147228396-147309062
GRCh38:
Chr1:147756263-147836927
GJA5See casesconflicting data from submitters
(Sep 21, 2012)
no assertion criteria providedVCV000150260
2.
GRCh37:
Chr1:147228667-147248718
GRCh38:
Chr1:147756534-147776607
GJA5See casesBenign
(Jul 30, 2009)
no assertion criteria providedVCV000146100
3.
GRCh37:
Chr1:147228867-147248577
GRCh38:
Chr1:147756734-147776466
GJA5See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000161016
4.
GRCh37:
Chr1:147228867-147248577
GRCh38:
Chr1:147756734-147776466
GJA5See casesUncertain significance
(May 27, 2010)
no assertion criteria providedVCV000033926
5.
GRCh37:
Chr1:147228899
GRCh38:
Chr1:147756766
GJA5Familial atrial fibrillationLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292436
6.
GRCh37:
Chr1:147229036
GRCh38:
Chr1:147756903
GJA5Familial atrial fibrillationUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292437
7.
GRCh37:
Chr1:147229084
GRCh38:
Chr1:147756951
GJA5Familial atrial fibrillationUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292438
8.
GRCh37:
Chr1:147229619-147229628
GRCh38:
Chr1:147757495-147757496
GJA5Familial atrial fibrillationLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292439
9.
GRCh37:
Chr1:147229654
GRCh38:
Chr1:147757546
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292440
10.
GRCh37:
Chr1:147229662
GRCh38:
Chr1:147757554
GJA5Familial atrial fibrillationLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000292441
11.
GRCh37:
Chr1:147229750
GRCh38:
Chr1:147757642
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292442
12.
GRCh37:
Chr1:147229762
GRCh38:
Chr1:147757654
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292443
13.
GRCh37:
Chr1:147229772
GRCh38:
Chr1:147757664
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875073
14.
GRCh37:
Chr1:147229906
GRCh38:
Chr1:147757798
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292444
15.
GRCh37:
Chr1:147229937
GRCh38:
Chr1:147757829
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000875074
16.
GRCh37:
Chr1:147230210
GRCh38:
Chr1:147758102
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292445
17.
GRCh37:
Chr1:147230217
GRCh38:
Chr1:147758109
GJA5not providedBenign
(Aug 27, 2018)
criteria provided, single submitterVCV001178588
18.
GRCh37:
Chr1:147230224
GRCh38:
Chr1:147758116
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292446
19.
GRCh37:
Chr1:147230248
GRCh38:
Chr1:147758140
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000876005
20.
GRCh37:
Chr1:147230279
GRCh38:
Chr1:147758171
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292447
21.
GRCh37:
Chr1:147230290
GRCh38:
Chr1:147758182
GJA5S353AAtrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876006
22.
GRCh37:
Chr1:147230309-147230312
GRCh38:
Chr1:147758201-147758204
GJA5S345fsAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Dec 15, 2019)
criteria provided, single submitterVCV000836933
23.
GRCh37:
Chr1:147230323
GRCh38:
Chr1:147758215
GJA5R342*not provided, Atrial fibrillation, familial, 11, Atrial standstill 1
Uncertain significance
(Jan 13, 2020)
criteria provided, multiple submitters, no conflictsVCV001056660
24.
GRCh37:
Chr1:147230341
GRCh38:
Chr1:147758233
GJA5G336SAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Dec 30, 2019)
criteria provided, single submitterVCV000838990
25.
GRCh37:
Chr1:147230352
GRCh38:
Chr1:147758244
GJA5R332HAtrial fibrillation, familial, 11, Atrial standstill 1, Atrial fibrillation, familial, 11,
Atrial fibrillation, familial, 11, 1q21.1 recurrent microdeletion, Atrial standstill 1
Conflicting interpretations of pathogenicity
(Oct 21, 2020)
criteria provided, conflicting interpretationsVCV000292448
26.
GRCh37:
Chr1:147230370
GRCh38:
Chr1:147758262
GJA5G326Anot providedUncertain significance
(Jul 31, 2019)
criteria provided, single submitterVCV001316153
27.
GRCh37:
Chr1:147230370
GRCh38:
Chr1:147758262
GJA5G326EAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Jun 20, 2018)
criteria provided, single submitterVCV000566272
28.
GRCh37:
Chr1:147230374
GRCh38:
Chr1:147758266
GJA5N325Hnot provided, Atrial standstill 1, Atrial fibrillation, familial, 11
Uncertain significance
(Aug 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000577662
29.
GRCh37:
Chr1:147230391
GRCh38:
Chr1:147758283
GJA5Q319LAtrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876987
30.
GRCh37:
Chr1:147230400
GRCh38:
Chr1:147758292
GJA5R316HAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Mar 19, 2019)
criteria provided, single submitterVCV000835840
31.
GRCh37:
Chr1:147230406
GRCh38:
Chr1:147758298
GJA5Q314RAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV001001932
32.
GRCh37:
Chr1:147230409
GRCh38:
Chr1:147758301
GJA5I313TAtrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876988
33.
GRCh37:
Chr1:147230444
GRCh38:
Chr1:147758336
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Likely benign
(Mar 13, 2019)
criteria provided, single submitterVCV001083545
34.
GRCh37:
Chr1:147230452
GRCh38:
Chr1:147758344
GJA5E299KWolff-Parkinson-White patternUncertain significance
(Jul 14, 2017)
no assertion criteria providedVCV000487608
35.
GRCh37:
Chr1:147230469
GRCh38:
Chr1:147758361
GJA5T293Inot providedUncertain significance
(Jul 30, 2019)
criteria provided, single submitterVCV001318731
36.
GRCh37:
Chr1:147230479
GRCh38:
Chr1:147758371
GJA5Q290*not providedUncertain significance
(Nov 4, 2019)
criteria provided, single submitterVCV001315925
37.
GRCh37:
Chr1:147230483
GRCh38:
Chr1:147758375
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Likely benign
(Mar 1, 2020)
criteria provided, single submitterVCV001107841
38.
GRCh37:
Chr1:147230554
GRCh38:
Chr1:147758446
GJA5P265Snot provided, Atrial fibrillation, familial, 11, Atrial standstill 1
Uncertain significance
(Oct 13, 2020)
criteria provided, single submitterVCV000648482
39.
GRCh37:
Chr1:147230557
GRCh38:
Chr1:147758449
GJA5P264TAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Oct 3, 2019)
criteria provided, single submitterVCV000971270
40.
GRCh37:
Chr1:147230560
GRCh38:
Chr1:147758452
GJA5P263SAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Oct 13, 2020)
criteria provided, single submitterVCV001021422
41.
GRCh37:
Chr1:147230575-147230576
GRCh38:
Chr1:147758467-147758468
GJA5V258fsAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Feb 27, 2020)
criteria provided, single submitterVCV001025426
42.
GRCh37:
Chr1:147230603
GRCh38:
Chr1:147758495
GJA5C248*Atrial fibrillation, familial, 11Uncertain significance
(Nov 28, 2018)
criteria provided, single submitterVCV000632079
43.
GRCh37:
Chr1:147230621
GRCh38:
Chr1:147758513
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11, not provided
Benign/Likely benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000696597
44.
GRCh37:
Chr1:147230623
GRCh38:
Chr1:147758515
GJA5R242Wnot providedUncertain significance
(Jun 30, 2020)
criteria provided, single submitterVCV001317266
45.
GRCh37:
Chr1:147230662
GRCh38:
Chr1:147758554
GJA5L229MAtrial fibrillation, familial, 11Pathogenic
(Apr 1, 2013)
no assertion criteria providedVCV000029666
46.
GRCh37:
Chr1:147230686
GRCh38:
Chr1:147758578
GJA5L221IAtrial fibrillation, familial, 11Pathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000029665
47.
GRCh37:
Chr1:147230755
GRCh38:
Chr1:147758647
GJA5V198IAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Oct 29, 2020)
criteria provided, single submitterVCV000859880
48.
GRCh37:
Chr1:147230761
GRCh38:
Chr1:147758653
GJA5C196GHypertrophic cardiomyopathyUncertain significance
(Apr 30, 2017)
criteria provided, single submitterVCV000427968
49.
GRCh37:
Chr1:147230803
GRCh38:
Chr1:147758695
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Likely benign
(Jul 2, 2019)
criteria provided, single submitterVCV001081636
50.
GRCh37:
Chr1:147230822
GRCh38:
Chr1:147758714
GJA5Y175*Atrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Aug 19, 2020)
criteria provided, single submitterVCV001034934
51.
GRCh37:
Chr1:147230834
GRCh38:
Chr1:147758726
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1, not provided
Likely benign
(Apr 25, 2018)
criteria provided, single submitterVCV000758530
52.
GRCh37:
Chr1:147230851
GRCh38:
Chr1:147758743
GJA5G166Snot provided, Atrial standstill 1, Atrial fibrillation, familial, 11
Uncertain significance
(Apr 21, 2021)
criteria provided, multiple submitters, no conflictsVCV000577850
53.
GRCh37:
Chr1:147230868
GRCh38:
Chr1:147758760
GJA5R160LAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Jan 29, 2019)
criteria provided, single submitterVCV000844690
54.
GRCh37:
Chr1:147230869
GRCh38:
Chr1:147758761
GJA5R160CAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Oct 12, 2019)
criteria provided, single submitterVCV000970329
55.
GRCh37:
Chr1:147230875
GRCh38:
Chr1:147758767
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Benign
(Oct 23, 2019)
criteria provided, single submitterVCV001167134
56.
GRCh37:
Chr1:147230914
GRCh38:
Chr1:147758806
GJA5L145fsnot provided, Atrial standstill 1, Atrial fibrillation, familial, 11
Uncertain significance
(Sep 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000567837
57.
GRCh37:
Chr1:147230917
GRCh38:
Chr1:147758809
GJA5A144TAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Mar 21, 2018)
criteria provided, single submitterVCV000567064
58.
GRCh37:
Chr1:147230936
GRCh38:
Chr1:147758828
GJA5E137DAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Jul 24, 2018)
criteria provided, single submitterVCV000645730
59.
GRCh37:
Chr1:147230970
GRCh38:
Chr1:147758862
GJA5P126LAtrial fibrillation, familial, 11Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000876989
60.
GRCh37:
Chr1:147230978
GRCh38:
Chr1:147758870
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1, Familial atrial fibrillation,
not specified, not provided
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000292449
61.
GRCh37:
Chr1:147230982
GRCh38:
Chr1:147758874
GJA5S122FAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Oct 4, 2017)
criteria provided, single submitterVCV000539329
62.
GRCh37:
Chr1:147230988
GRCh38:
Chr1:147758880
GJA5S120Cnot providedUncertain significance
(Jun 25, 2019)
criteria provided, single submitterVCV001317232
63.
GRCh37:
Chr1:147230989
GRCh38:
Chr1:147758881
GJA5S120PAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Sep 2, 2019)
criteria provided, single submitterVCV000963188
64.
GRCh37:
Chr1:147230990-147230991
GRCh38:
Chr1:147758882-147758883
GJA5S120fsnot providedUncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV001316007
65.
GRCh37:
Chr1:147230991
GRCh38:
Chr1:147758883
GJA5G119Dnot providedUncertain significance
(May 15, 2019)
criteria provided, single submitterVCV001318650
66.
GRCh37:
Chr1:147230994
GRCh38:
Chr1:147758886
GJA5R118QAtrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292450
67.
GRCh37:
Chr1:147230999
GRCh38:
Chr1:147758891
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1, Atrial fibrillation, familial, 11
Conflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000876990
68.
GRCh37:
Chr1:147231005
GRCh38:
Chr1:147758897
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292451
69.
GRCh37:
Chr1:147231013
GRCh38:
Chr1:147758905
GJA5E112QAtrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292452
70.
GRCh37:
Chr1:147231020
GRCh38:
Chr1:147758912
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Likely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001085667
71.
GRCh37:
Chr1:147231022
GRCh38:
Chr1:147758914
GJA5R109WAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Jan 23, 2018)
criteria provided, single submitterVCV000575645
72.
GRCh37:
Chr1:147231050
GRCh38:
Chr1:147758942
GJA5Atrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Oct 10, 2019)
criteria provided, single submitterVCV000936909
73.
GRCh37:
Chr1:147231061
GRCh38:
Chr1:147758953
GJA5A96Snot provided, Atrial fibrillation, familial, 11, Atrial fibrillation, familial, 11,
Atrial standstill 1
Uncertain significance
(Oct 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000016998
74.
GRCh37:
Chr1:147231069
GRCh38:
Chr1:147758961
GJA5M93TAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Aug 26, 2020)
criteria provided, single submitterVCV001038988
75.
GRCh37:
Chr1:147231085
GRCh38:
Chr1:147758977
GJA5P88SAtrial fibrillation, somaticPathogenic
(Jun 22, 2006)
no assertion criteria providedVCV000016999
76.
GRCh37:
Chr1:147231088
GRCh38:
Chr1:147758980
GJA5T87SAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Jun 13, 2018)
criteria provided, single submitterVCV000570545
77.
GRCh37:
Chr1:147231094
GRCh38:
Chr1:147758986
GJA5V85IAtrial fibrillation, familial, 11Pathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000029664
78.
GRCh37:
Chr1:147231106
GRCh38:
Chr1:147758998
GJA5Q81*Atrial fibrillation, familial, 11Uncertain significance
(Dec 25, 2018)
criteria provided, single submitterVCV000632080
79.
GRCh37:
Chr1:147231124
GRCh38:
Chr1:147759016
GJA5I75FAtrial fibrillation, familial, 11Pathogenic
(Apr 1, 2013)
no assertion criteria providedVCV000126903
80.
GRCh37:
Chr1:147231148
GRCh38:
Chr1:147759040
GJA5D67NAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Sep 20, 2020)
criteria provided, single submitterVCV001018451
81.
GRCh37:
Chr1:147231148
GRCh38:
Chr1:147759040
GJA5D67YAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(Aug 8, 2018)
criteria provided, single submitterVCV000664564
82.
GRCh37:
Chr1:147231177
GRCh38:
Chr1:147759069
GJA5I57SAtrial fibrillation, familial, 11, Atrial standstill 1Uncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV001062702
83.
GRCh37:
Chr1:147231199
GRCh38:
Chr1:147759091
GJA5A50TAtrial standstill 1, Atrial fibrillation, familial, 11Uncertain significance
(May 3, 2019)
criteria provided, single submitterVCV000638996
84.
GRCh37:
Chr1:147231200
GRCh38:
Chr1:147759092
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1Likely benign
(Jul 20, 2020)
criteria provided, single submitterVCV001145680
85.
GRCh37:
Chr1:147231202
GRCh38:
Chr1:147759094
GJA5Q49*Atrial fibrillation, familial, 11Pathogenic
(Oct 1, 2010)
no assertion criteria providedVCV000029663
86.
GRCh37:
Chr1:147231230
GRCh38:
Chr1:147759122
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1Likely benign
(Dec 22, 2019)
criteria provided, single submitterVCV001127512
87.
GRCh37:
Chr1:147231236
GRCh38:
Chr1:147759128
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1Likely benign
(Jul 13, 2020)
criteria provided, single submitterVCV001148505
88.
GRCh37:
Chr1:147231294
GRCh38:
Chr1:147759186
GJA5S18Lnot providedUncertain significance
(Apr 22, 2019)
criteria provided, single submitterVCV001316776
89.
GRCh37:
Chr1:147231309
GRCh38:
Chr1:147759201
GJA5E13Gnot providedUncertain significance
(Jul 3, 2019)
criteria provided, single submitterVCV001318672
90.
GRCh37:
Chr1:147231334
GRCh38:
Chr1:147759226
GJA5S5GAtrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292453
91.
GRCh37:
Chr1:147231373
GRCh38:
Chr1:147759265
GJA5Atrial fibrillation, familial, 11, not providedBenign/Likely benign
(Sep 17, 2018)
criteria provided, multiple submitters, no conflictsVCV000292454
92.
GRCh37:
Chr1:147231531
GRCh38:
Chr1:147759423
GJA5not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001236870
93.
GRCh37:
Chr1:147231687
GRCh38:
Chr1:147759579
GJA5not providedBenign
(Sep 4, 2018)
criteria provided, single submitterVCV001286312
94.
GRCh37:
Chr1:147232740
GRCh38:
Chr1:147760632
GJA5Atrial fibrillation, familial, 11, Atrial standstill 1Benign
(Dec 4, 2020)
criteria provided, single submitterVCV001167239
95.
GRCh37:
Chr1:147245373
GRCh38:
Chr1:147773269
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292455
96.
GRCh37:
Chr1:147245383
GRCh38:
Chr1:147773279
GJA5Familial atrial fibrillation, Atrial standstill 1, Atrial fibrillation, familial, 11
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000292456
97.
GRCh37:
Chr1:147245389
GRCh38:
Chr1:147773285
GJA5Familial atrial fibrillationUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000292457
98.
GRCh37:
Chr1:147245390
GRCh38:
Chr1:147773286
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000292458
99.
GRCh37:
Chr1:147245430
GRCh38:
Chr1:147773326
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000292459
100.
GRCh37:
Chr1:147245447
GRCh38:
Chr1:147773343
GJA5Atrial fibrillation, familial, 11Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875121
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