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Items: 1 to 100 of 408

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:34526082-35087009
NUTM1, GJD2, ACTC1, SLC12A6, GOLGA8A, NOP10, GOLGA8B, LPCAT4Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Mar 22, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr15:35084282
GRCh38:
Chr15:34792081
ACTC1, GJD2-DTAtrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Likely benign
(Sep 12, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr15:35083309
GRCh38:
Chr15:34791108
GJD2-DT, ACTC1Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Uncertain significance
(Feb 13, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr15:35084782
GRCh38:
Chr15:34792581
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Likely benign
(Jul 14, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr15:35083336
GRCh38:
Chr15:34791135
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(May 27, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:35084271
GRCh38:
Chr15:34792070
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely benign
(Jan 15, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr15:35085743
GRCh38:
Chr15:34793542
ACTC1, GJD2-DTD53N, D8NHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(May 1, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:35084705
GRCh38:
Chr15:34792504
GJD2-DT, ACTC1P129T, P174T, P27TAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr15:35085588
GRCh38:
Chr15:34793387
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Aug 29, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr15:35085788
GRCh38:
Chr15:34793587
GJD2-DT, ACTC1Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Likely benign
(Feb 6, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr15:35085571
GRCh38:
Chr15:34793370
ACTC1, GJD2-DTA110V, A65VDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Mar 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:35084440
GRCh38:
Chr15:34792239
ACTC1, GJD2-DTY175F, Y220F, Y73FAtrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:35082754
GRCh38:
Chr15:34790553
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Apr 12, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr15:35084744
GRCh38:
Chr15:34792543
GJD2-DT, ACTC1V14I, V161I, V116IHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:35086958
GRCh38:
Chr15:34794757
ACTC1, GJD2-DTL18MDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Mar 8, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:35082758
GRCh38:
Chr15:34790557
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Mar 5, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:35085524
GRCh38:
Chr15:34793323
GJD2-DT, ACTC1F81I, F126IHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Feb 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:35084594-35084595
GRCh38:
Chr15:34792393-34792394
ACTC1, GJD2-DTAtrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Likely benign
(Aug 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr15:35086916
GRCh38:
Chr15:34794715
GJD2-DT, ACTC1V32LAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:35082640
GRCh38:
Chr15:34790439
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Mar 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:35085768
GRCh38:
Chr15:34793567
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Likely benign
(Dec 24, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr15:35085449
GRCh38:
Chr15:34793248
ACTC1, GJD2-DTT106A, T151ADilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr15:35085602
GRCh38:
Chr15:34793401
GJD2-DT, ACTC1P55T, P100TDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr15:35086949
GRCh38:
Chr15:34794748
ACTC1, GJD2-DTA21TCardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R,
Hypertrophic cardiomyopathy 11
Uncertain significance
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:35086928
GRCh38:
Chr15:34794727
GJD2-DT, ACTC1A28TAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Sep 1, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr15:35085460
GRCh38:
Chr15:34793259
GJD2-DT, ACTC1S102C, S147CAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Dec 17, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr15:35082677
GRCh38:
Chr15:34790476
ACTC1, GJD2-DTM210T, M312T, M357TAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Dec 16, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr15:35085705
GRCh38:
Chr15:34793504
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(May 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr15:35086864
GRCh38:
Chr15:34794663
GJD2-DT, ACTC1Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(May 17, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:35086873
GRCh38:
Chr15:34794672
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Oct 7, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:35085433
GRCh38:
Chr15:34793232
GJD2-DT, ACTC1Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Likely benign
(Oct 3, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr15:35085516
GRCh38:
Chr15:34793315
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Sep 22, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:35084599
GRCh38:
Chr15:34792398
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Likely benign
(Oct 8, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:35085459
GRCh38:
Chr15:34793258
GJD2-DT, ACTC1G148fsHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Aug 12, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr15:35085749
GRCh38:
Chr15:34793548
GJD2-DT, ACTC1Q6*, Q51*Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr15:35084644
GRCh38:
Chr15:34792443
GJD2-DT, ACTC1I47N, I149N, I194NHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely pathogenic
(Aug 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:35086887
GRCh38:
Chr15:34794686
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Likely benign
(Jul 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr15:35085750
GRCh38:
Chr15:34793549
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Likely benign
(Jul 3, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:35084428
GRCh38:
Chr15:34792227
GJD2-DT, ACTC1D77G, D179G, D224GHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Jun 13, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:35084681
GRCh38:
Chr15:34792480
GJD2-DT, ACTC1L137M, L35M, L182MDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:35083444
GRCh38:
Chr15:34791243
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Likely benign
(May 27, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr15:35083332-35083335
GRCh38:
Chr15:34791131-34791134
ACTC1, GJD2-DTP324fsHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(May 27, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr15:35084696
GRCh38:
Chr15:34792495
ACTC1, GJD2-DTI132F, I177F, I30FHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(May 19, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr15:35083300
GRCh38:
Chr15:34791099
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Jul 1, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr15:35084355
GRCh38:
Chr15:34792154
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Oct 17, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr15:35084606
GRCh38:
Chr15:34792405
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(May 25, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr15:35086867
GRCh38:
Chr15:34794666
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Jun 22, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:35086980
GRCh38:
Chr15:34794779
ACTC1, GJD2-DTCardiovascular phenotype, Hypertrophic cardiomyopathy 11, Atrial septal defect 5,
Dilated cardiomyopathy 1R
Likely benign
(Nov 17, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:35084716
GRCh38:
Chr15:34792515
ACTC1, GJD2-DTG125D, G170D, G23DDilated cardiomyopathy 1RUncertain significance
(Oct 19, 2020)
criteria provided, single submitter
50.
GRCh37:
Chr15:35082652
GRCh38:
Chr15:34790451
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
Cardiovascular phenotype
Likely benign
(Apr 11, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr15:35084331
GRCh38:
Chr15:34792130
ACTC1, GJD2-DTCardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R,
Hypertrophic cardiomyopathy 11
Likely benign
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr15:35084671
GRCh38:
Chr15:34792470
ACTC1, GJD2-DTR140Q, R185Q, R38QCardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R,
Hypertrophic cardiomyopathy 11
Uncertain significance
(Feb 6, 2023)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr15:35083449
GRCh38:
Chr15:34791248
ACTC1, GJD2-DTK139E, K241E, K286EDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Jul 29, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr15:35085476
GRCh38:
Chr15:34793275
ACTC1, GJD2-DTL142V, L97VDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Oct 1, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr15:35084770
GRCh38:
Chr15:34792569
ACTC1, GJD2-DTC5F, G107V, G152VDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr15:35085610
GRCh38:
Chr15:34793409
ACTC1, GJD2-DTR52H, R97HDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Uncertain significance
(Sep 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr15:35084660
GRCh38:
Chr15:34792459
ACTC1, GJD2-DTD144H, D189H, D42HHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Aug 27, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:35085654
GRCh38:
Chr15:34793453
ACTC1, GJD2-DTD37E, D82EDilated cardiomyopathy 1RUncertain significance
(Jan 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:35083462
GRCh38:
Chr15:34791261
ACTC1, GJD2-DTDilated cardiomyopathy 1RPathogenic
(Feb 1, 2013)
criteria provided, single submitter
60.
GRCh37:
Chr15:35084628
GRCh38:
Chr15:34792427
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Mar 22, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr15:35083509-35083528
GRCh38:
Chr15:34791308-34791327
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Likely benign
(Nov 4, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr15:35082774
GRCh38:
Chr15:34790573
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Feb 5, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr15:35085774
GRCh38:
Chr15:34793573
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Jun 13, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr15:35084463
GRCh38:
Chr15:34792262
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely benign
(Feb 8, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:35084784
GRCh38:
Chr15:34792583
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Likely benign
(Oct 4, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:35085459
GRCh38:
Chr15:34793258
ACTC1, GJD2-DTCardiovascular phenotype, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R
Likely benign
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:35085780-35085781
GRCh38:
Chr15:34793579-34793580
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Benign
(Oct 18, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr15:35082628
GRCh38:
Chr15:34790427
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Oct 26, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr15:35083513-35083514
GRCh38:
Chr15:34791312-34791313
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Jul 31, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr15:35084493
GRCh38:
Chr15:34792292
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(May 19, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr15:35084788
GRCh38:
Chr15:34792587
GJD2-DT, ACTC1Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Likely benign
(May 27, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr15:35083507-35083508
GRCh38:
Chr15:34791306-34791307
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Aug 22, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:35083507
GRCh38:
Chr15:34791306
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Oct 14, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr15:35085615
GRCh38:
Chr15:34793414
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Jul 2, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr15:35083515-35083516
GRCh38:
Chr15:34791314-34791315
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Jul 31, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr15:35086890
GRCh38:
Chr15:34794689
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Apr 9, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr15:35083509-35083530
GRCh38:
Chr15:34791308-34791329
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(May 18, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:35083390
GRCh38:
Chr15:34791189
ACTC1, GJD2-DTCardiovascular phenotype, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
Atrial septal defect 5
Likely benign
(Aug 6, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:35084774
GRCh38:
Chr15:34792573
ACTC1, GJD2-DTAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Likely benign
(Dec 15, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr15:35083508
GRCh38:
Chr15:34791307
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Sep 13, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Nov 4, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr15:35084754
GRCh38:
Chr15:34792553
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Aug 19, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr15:35083420
GRCh38:
Chr15:34791219
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(May 3, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr15:35084301
GRCh38:
Chr15:34792100
GJD2-DT, ACTC1Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(May 17, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr15:35084788
GRCh38:
Chr15:34792587
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely benign
(Jul 5, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr15:35084400
GRCh38:
Chr15:34792199
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Aug 30, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr15:35084346
GRCh38:
Chr15:34792145
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely benign
(May 30, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr15:35083399
GRCh38:
Chr15:34791198
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Likely benign
(Feb 24, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr15:35082748
GRCh38:
Chr15:34790547
ACTC1, GJD2-DTHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Likely benign
(Jul 22, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:35083508-35083509
GRCh38:
Chr15:34791307-34791308
ACTC1, GJD2-DTDilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
Likely benign
(Aug 20, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr15:35084341
GRCh38:
Chr15:34792140
ACTC1, GJD2-DTG253VDilated cardiomyopathy 1RUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:35083341
GRCh38:
Chr15:34791140
ACTC1, GJD2-DTL322VDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr15:35082654
GRCh38:
Chr15:34790453
ACTC1, GJD2-DTD365YHypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
Uncertain significance
(Sep 17, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr15:35082618
GRCh38:
Chr15:34790417
ACTC1, GJD2-DTF377VAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr15:35085611
GRCh38:
Chr15:34793410
ACTC1, GJD2-DTR97CAtrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr15:35085503
GRCh38:
Chr15:34793302
GJD2-DT, ACTC1A133PHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Uncertain significance
(Mar 2, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr15:35082718
GRCh38:
Chr15:34790517
ACTC1, GJD2-DTI343fsDilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
Uncertain significance
(Aug 19, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr15:35083422
GRCh38:
Chr15:34791221
GJD2-DT, ACTC1L295MHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr15:35084374
GRCh38:
Chr15:34792173
ACTC1, GJD2-DTY242CHypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R,
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
Conflicting interpretations of pathogenicity
(Aug 30, 2021)
criteria provided, conflicting interpretations
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