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Items: 1 to 100 of 410

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:35085711
GRCh38:
Chr15:34793510
ACTC1, GJD2-DTK18N, K63NDilated cardiomyopathy 1RUncertain significance
(Jul 27, 2023)
criteria provided, single submitter
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
GRCh37:
Chr15:35082758
GRCh38:
Chr15:34790557
ACTC1, GJD2-DTAtrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
Uncertain significance
(Mar 5, 2022)
criteria provided, single submitter
18.
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
19.
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
20.
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
21.
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
22.
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
23.
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
24.
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
25.
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
26.
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
27.
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
28.
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
29.
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
30.
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
31.
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
32.
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
33.
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
34.
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
35.
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
36.
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
37.
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
38.
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
39.
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
40.
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
41.
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
42.
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
43.
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
44.
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
45.
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
46.
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
47.
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
48.
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
49.
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
50.
GRCh37:
Chr15:35084716
GRCh38:
Chr15:34792515
ACTC1, GJD2-DTG125D, G170D, G23DDilated cardiomyopathy 1RUncertain significance
(Oct 19, 2020)
criteria provided, single submitter
51.
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
52.
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
53.
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
54.
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
55.
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
56.
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
57.
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
58.
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
59.
GRCh37:
Chr15:35085654
GRCh38:
Chr15:34793453
ACTC1, GJD2-DTD37E, D82EDilated cardiomyopathy 1RUncertain significance
(Jan 13, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:35083462
GRCh38:
Chr15:34791261
ACTC1, GJD2-DTDilated cardiomyopathy 1RPathogenic
(Feb 1, 2013)
criteria provided, single submitter
61.
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
62.
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
63.
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
64.
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
65.
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
66.
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
67.
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
68.
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
69.
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
70.
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
71.
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
72.
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
73.
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
74.
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
75.
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
76.
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
77.
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
78.
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
79.
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
80.
GRCh37:
Chr15:35083390
GRCh38:
Chr15:34791189
ACTC1, GJD2-DTCardiovascular phenotype, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, not specified
Likely benign
(Apr 10, 2023)
criteria provided, multiple submitters, no conflicts
81.
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
82.
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
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
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
92.
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
93.
GRCh37:
Chr15:35084341
GRCh38:
Chr15:34792140
ACTC1, GJD2-DTG253VDilated cardiomyopathy 1RUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
94.
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
95.
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
96.
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
97.
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
98.
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
99.
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
100.
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
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