| - GRCh37:
- Chr15:34526082-35087009
| NUTM1, GJD2, ACTC1, SLC12A6, GOLGA8A, NOP10, GOLGA8B, LPCAT4 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084282
- GRCh38:
- Chr15:34792081
| ACTC1, GJD2-DT | | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Likely benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083309
- GRCh38:
- Chr15:34791108
| GJD2-DT, ACTC1 | | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Uncertain significance (Feb 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084782
- GRCh38:
- Chr15:34792581
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Likely benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083336
- GRCh38:
- Chr15:34791135
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084271
- GRCh38:
- Chr15:34792070
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely benign (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085743
- GRCh38:
- Chr15:34793542
| ACTC1, GJD2-DT | D53N, D8N | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084705
- GRCh38:
- Chr15:34792504
| GJD2-DT, ACTC1 | P129T, P174T, P27T | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085588
- GRCh38:
- Chr15:34793387
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085788
- GRCh38:
- Chr15:34793587
| GJD2-DT, ACTC1 | | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Likely benign (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085571
- GRCh38:
- Chr15:34793370
| ACTC1, GJD2-DT | A110V, A65V | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084440
- GRCh38:
- Chr15:34792239
| ACTC1, GJD2-DT | Y175F, Y220F, Y73F | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Uncertain significance (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082754
- GRCh38:
- Chr15:34790553
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084744
- GRCh38:
- Chr15:34792543
| GJD2-DT, ACTC1 | V14I, V161I, V116I | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086958
- GRCh38:
- Chr15:34794757
| ACTC1, GJD2-DT | L18M | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082758
- GRCh38:
- Chr15:34790557
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085524
- GRCh38:
- Chr15:34793323
| GJD2-DT, ACTC1 | F81I, F126I | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Feb 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084594-35084595
- GRCh38:
- Chr15:34792393-34792394
| ACTC1, GJD2-DT | | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086916
- GRCh38:
- Chr15:34794715
| GJD2-DT, ACTC1 | V32L | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082640
- GRCh38:
- Chr15:34790439
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085768
- GRCh38:
- Chr15:34793567
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Likely benign (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085449
- GRCh38:
- Chr15:34793248
| ACTC1, GJD2-DT | T106A, T151A | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085602
- GRCh38:
- Chr15:34793401
| GJD2-DT, ACTC1 | P55T, P100T | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086949
- GRCh38:
- Chr15:34794748
| ACTC1, GJD2-DT | A21T | Cardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11 | Uncertain significance (Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35086928
- GRCh38:
- Chr15:34794727
| GJD2-DT, ACTC1 | A28T | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085460
- GRCh38:
- Chr15:34793259
| GJD2-DT, ACTC1 | S102C, S147C | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082677
- GRCh38:
- Chr15:34790476
| ACTC1, GJD2-DT | M210T, M312T, M357T | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085705
- GRCh38:
- Chr15:34793504
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086864
- GRCh38:
- Chr15:34794663
| GJD2-DT, ACTC1 | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086873
- GRCh38:
- Chr15:34794672
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085433
- GRCh38:
- Chr15:34793232
| GJD2-DT, ACTC1 | | Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
| Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085516
- GRCh38:
- Chr15:34793315
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084599
- GRCh38:
- Chr15:34792398
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Likely benign (Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085459
- GRCh38:
- Chr15:34793258
| GJD2-DT, ACTC1 | G148fs | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085749
- GRCh38:
- Chr15:34793548
| GJD2-DT, ACTC1 | Q6*, Q51* | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084644
- GRCh38:
- Chr15:34792443
| GJD2-DT, ACTC1 | I47N, I149N, I194N | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely pathogenic (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086887
- GRCh38:
- Chr15:34794686
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085750
- GRCh38:
- Chr15:34793549
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Likely benign (Jul 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084428
- GRCh38:
- Chr15:34792227
| GJD2-DT, ACTC1 | D77G, D179G, D224G | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084681
- GRCh38:
- Chr15:34792480
| GJD2-DT, ACTC1 | L137M, L35M, L182M | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083444
- GRCh38:
- Chr15:34791243
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083332-35083335
- GRCh38:
- Chr15:34791131-34791134
| ACTC1, GJD2-DT | P324fs | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084696
- GRCh38:
- Chr15:34792495
| ACTC1, GJD2-DT | I132F, I177F, I30F | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083300
- GRCh38:
- Chr15:34791099
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084355
- GRCh38:
- Chr15:34792154
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084606
- GRCh38:
- Chr15:34792405
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086867
- GRCh38:
- Chr15:34794666
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086980
- GRCh38:
- Chr15:34794779
| ACTC1, GJD2-DT | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R | Likely benign (Nov 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084716
- GRCh38:
- Chr15:34792515
| ACTC1, GJD2-DT | G125D, G170D, G23D | Dilated cardiomyopathy 1R | Uncertain significance (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082652
- GRCh38:
- Chr15:34790451
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Cardiovascular phenotype | Likely benign (Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084331
- GRCh38:
- Chr15:34792130
| ACTC1, GJD2-DT | | Cardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11 | Likely benign (Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084671
- GRCh38:
- Chr15:34792470
| ACTC1, GJD2-DT | R140Q, R185Q, R38Q | Cardiovascular phenotype, Atrial septal defect 5, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11 | Uncertain significance (Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35083449
- GRCh38:
- Chr15:34791248
| ACTC1, GJD2-DT | K139E, K241E, K286E | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085476
- GRCh38:
- Chr15:34793275
| ACTC1, GJD2-DT | L142V, L97V | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084770
- GRCh38:
- Chr15:34792569
| ACTC1, GJD2-DT | C5F, G107V, G152V | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085610
- GRCh38:
- Chr15:34793409
| ACTC1, GJD2-DT | R52H, R97H | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084660
- GRCh38:
- Chr15:34792459
| ACTC1, GJD2-DT | D144H, D189H, D42H | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085654
- GRCh38:
- Chr15:34793453
| ACTC1, GJD2-DT | D37E, D82E | Dilated cardiomyopathy 1R | Uncertain significance (Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083462
- GRCh38:
- Chr15:34791261
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R | Pathogenic (Feb 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084628
- GRCh38:
- Chr15:34792427
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083509-35083528
- GRCh38:
- Chr15:34791308-34791327
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Likely benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082774
- GRCh38:
- Chr15:34790573
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085774
- GRCh38:
- Chr15:34793573
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Jun 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084463
- GRCh38:
- Chr15:34792262
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084784
- GRCh38:
- Chr15:34792583
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085459
- GRCh38:
- Chr15:34793258
| ACTC1, GJD2-DT | | Cardiovascular phenotype, Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R | Likely benign (May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35085780-35085781
- GRCh38:
- Chr15:34793579-34793580
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Benign (Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082628
- GRCh38:
- Chr15:34790427
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083513-35083514
- GRCh38:
- Chr15:34791312-34791313
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084493
- GRCh38:
- Chr15:34792292
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (May 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084788
- GRCh38:
- Chr15:34792587
| GJD2-DT, ACTC1 | | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083507-35083508
- GRCh38:
- Chr15:34791306-34791307
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083507
- GRCh38:
- Chr15:34791306
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085615
- GRCh38:
- Chr15:34793414
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Jul 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083515-35083516
- GRCh38:
- Chr15:34791314-34791315
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35086890
- GRCh38:
- Chr15:34794689
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Apr 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083509-35083530
- GRCh38:
- Chr15:34791308-34791329
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083390
- GRCh38:
- Chr15:34791189
| ACTC1, GJD2-DT | | Cardiovascular phenotype, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5 | Likely benign (Aug 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:35084774
- GRCh38:
- Chr15:34792573
| ACTC1, GJD2-DT | | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Likely benign (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083508
- GRCh38:
- Chr15:34791307
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084754
- GRCh38:
- Chr15:34792553
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083420
- GRCh38:
- Chr15:34791219
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (May 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084301
- GRCh38:
- Chr15:34792100
| GJD2-DT, ACTC1 | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084788
- GRCh38:
- Chr15:34792587
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely benign (Jul 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084400
- GRCh38:
- Chr15:34792199
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084346
- GRCh38:
- Chr15:34792145
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely benign (May 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083399
- GRCh38:
- Chr15:34791198
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082748
- GRCh38:
- Chr15:34790547
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Likely benign (Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| ACTC1, GJD2-DT | | Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11, Atrial septal defect 5
| Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084341
- GRCh38:
- Chr15:34792140
| ACTC1, GJD2-DT | G253V | Dilated cardiomyopathy 1R | Uncertain significance (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083341
- GRCh38:
- Chr15:34791140
| ACTC1, GJD2-DT | L322V | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082654
- GRCh38:
- Chr15:34790453
| ACTC1, GJD2-DT | D365Y | Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5
| Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082618
- GRCh38:
- Chr15:34790417
| ACTC1, GJD2-DT | F377V | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085611
- GRCh38:
- Chr15:34793410
| ACTC1, GJD2-DT | R97C | Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
| Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35085503
- GRCh38:
- Chr15:34793302
| GJD2-DT, ACTC1 | A133P | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Uncertain significance (Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082718
- GRCh38:
- Chr15:34790517
| ACTC1, GJD2-DT | I343fs | Dilated cardiomyopathy 1R, Atrial septal defect 5, Hypertrophic cardiomyopathy 11
| Uncertain significance (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35083422
- GRCh38:
- Chr15:34791221
| GJD2-DT, ACTC1 | L295M | Hypertrophic cardiomyopathy 11, Atrial septal defect 5, Dilated cardiomyopathy 1R
| Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084374
- GRCh38:
- Chr15:34792173
| ACTC1, GJD2-DT | Y242C | Hypertrophic 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 |