| - GRCh37:
- Chr1:229568782
- GRCh38:
- Chr1:229433035
| ACTA1 | | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Familial restrictive cardiomyopathy
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229568153
- GRCh38:
- Chr1:229432406
| ACTA1 | | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Familial restrictive cardiomyopathy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229567180
- GRCh38:
- Chr1:229431433
| ACTA1 | | Actin accumulation myopathy, Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229566998
- GRCh38:
- Chr1:229431251
| ACTA1 | | Actin accumulation myopathy, Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229568322
- GRCh38:
- Chr1:229432575
| ACTA1 | | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Jul 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229568304
- GRCh38:
- Chr1:229432557
| ACTA1 | | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Aug 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567252
- GRCh38:
- Chr1:229431505
| ACTA1 | | Congenital myopathy with fiber type disproportion, Actin accumulation myopathy, Familial restrictive cardiomyopathy
| Uncertain significance
(Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229567570
- GRCh38:
- Chr1:229431823
| ACTA1 | | Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
| Conflicting interpretations of pathogenicity
(Jun 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567763
- GRCh38:
- Chr1:229432016
| ACTA1 | | Familial restrictive cardiomyopathy, not provided, Congenital myopathy with fiber type disproportion,
Actin accumulation myopathy | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179443335-179443336
- GRCh38:
- Chr2:178578608-178578609
| LOC126806423, TTN, TTN-AS1 | | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided,
Familial restrictive cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179582541
- GRCh38:
- Chr2:178717814
| TTN | | Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179515477
- GRCh38:
- Chr2:178650750
| TTN | | Familial restrictive cardiomyopathy | Uncertain significance
(Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:3329133
- GRCh38:
- Chr1:3412569
| PRDM16 | G791D | Familial restrictive cardiomyopathy | Uncertain significance
(Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:31462686
- GRCh38:
- ChrX:31444569
| DMD | A1655V, A270V, A2876V, A2991V, A2995V, A2999V, A539V, A1658V | Cardiovascular phenotype, Duchenne muscular dystrophy, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Jun 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55663210-55663211
- GRCh38:
- Chr19:55151842-55151843
| TNNI3 | E209* | not provided, Familial restrictive cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 3, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567255
- GRCh38:
- Chr1:229431508
| ACTA1 | | Actin accumulation myopathy, Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion
| Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55671337
- GRCh38:
- Chr19:55159969
| DNAAF3, DNAAF3-AS1, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
Ciliary dyskinesia, Primary ciliary dyskinesia 2, Hypertrophic cardiomyopathy
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55670651
- GRCh38:
- Chr19:55159283
| DNAAF3, TNNI3 | V516M, V536M, V415M, V469M | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial restrictive cardiomyopathy,
Ciliary dyskinesia, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55669105
- GRCh38:
- Chr19:55157737
| TNNI3 | | Familial restrictive cardiomyopathy, not provided, Dilated Cardiomyopathy, Recessive,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Hypertrophic cardiomyopathy | Likely benign
(Jul 11, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55673143
- GRCh38:
- Chr19:55161775
| DNAAF3-AS1, DNAAF3, TNNI3 | | not provided, Hypertrophic cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Dilated Cardiomyopathy, Recessive, Ciliary dyskinesia, Familial restrictive cardiomyopathy
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55669090
- GRCh38:
- Chr19:55157722
| TNNI3 | | Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Dilated Cardiomyopathy, Recessive | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:55669060
- GRCh38:
- Chr19:55157692
| TNNI3 | | Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, not provided,
Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55669042
- GRCh38:
- Chr19:55157674
| TNNI3 | | Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, not provided,
Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55667694
- GRCh38:
- Chr19:55156326
| TNNI3 | | Cardiomyopathy, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy,
Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | Conflicting interpretations of pathogenicity
(Feb 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35087878
- GRCh38:
- Chr15:34795677
| ACTC1, GJD2-DT | | Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Atrial septal defect | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087859
- GRCh38:
- Chr15:34795658
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087793
- GRCh38:
- Chr15:34795592
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087789
- GRCh38:
- Chr15:34795588
| ACTC1, GJD2-DT | | Atrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087785
- GRCh38:
- Chr15:34795584
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087739
- GRCh38:
- Chr15:34795538
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy,
Atrial septal defect, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35087733-35087734
- GRCh38:
- Chr15:34795532-34795533
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy,
not provided, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
| Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35087720
- GRCh38:
- Chr15:34795519
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
| Conflicting interpretations of pathogenicity
(Feb 6, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, not provided, Atrial septal defect,
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
Left ventricular noncompaction cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083509-35083520
- GRCh38:
- Chr15:34791308-34791319
| ACTC1, GJD2-DT | | Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy, not specified,
Atrial septal defect, Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11,
Atrial septal defect 5, Dilated Cardiomyopathy, Dominant, Primary dilated cardiomyopathy,
Left ventricular noncompaction cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083509-35083512
- GRCh38:
- Chr15:34791308-34791311
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, not provided, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083509-35083510
- GRCh38:
- Chr15:34791308-34791309
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, not specified, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Atrial septal defect, Left ventricular noncompaction cardiomyopathy
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, not specified, Familial restrictive cardiomyopathy,
not provided, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083508-35083509
- GRCh38:
- Chr15:34791307-34791308
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, not specified, Familial restrictive cardiomyopathy,
Atrial septal defect 5, Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R,
not provided, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083507-35083508
- GRCh38:
- Chr15:34791306-34791307
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect 5, Hypertrophic cardiomyopathy 11,
Dilated cardiomyopathy 1R, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:35083327
- GRCh38:
- Chr15:34791126
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy, Atrial septal defect,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082389
- GRCh38:
- Chr15:34790188
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082366
- GRCh38:
- Chr15:34790165
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082329
- GRCh38:
- Chr15:34790128
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082306
- GRCh38:
- Chr15:34790105
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082191
- GRCh38:
- Chr15:34789990
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35082052
- GRCh38:
- Chr15:34789851
| GJD2-DT, ACTC1 | | Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081970
- GRCh38:
- Chr15:34789769
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081967
- GRCh38:
- Chr15:34789766
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081939
- GRCh38:
- Chr15:34789738
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081905
- GRCh38:
- Chr15:34789704
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081874
- GRCh38:
- Chr15:34789673
| ACTC1, GJD2-DT | | Atrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081838
- GRCh38:
- Chr15:34789637
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081678
- GRCh38:
- Chr15:34789477
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081630
- GRCh38:
- Chr15:34789429
| ACTC1, GJD2-DT | | Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081551
- GRCh38:
- Chr15:34789350
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081543
- GRCh38:
- Chr15:34789342
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Left ventricular noncompaction cardiomyopathy,
Hypertrophic cardiomyopathy, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081523
- GRCh38:
- Chr15:34789322
| GJD2-DT, ACTC1 | | Atrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081498
- GRCh38:
- Chr15:34789297
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Hypertrophic cardiomyopathy,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081295
- GRCh38:
- Chr15:34789094
| ACTC1, GJD2-DT | | Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081131
- GRCh38:
- Chr15:34788930
| ACTC1, GJD2-DT | | Atrial septal defect, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35081111
- GRCh38:
- Chr15:34788910
| GJD2-DT, ACTC1 | | Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35080860
- GRCh38:
- Chr15:34788659
| ACTC1, GJD2-DT | | Atrial septal defect, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35080832
- GRCh38:
- Chr15:34788631
| ACTC1, GJD2-DT | | Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant,
Familial restrictive cardiomyopathy, Atrial septal defect | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35080816
- GRCh38:
- Chr15:34788615
| GJD2-DT, ACTC1 | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35080445
- GRCh38:
- Chr15:34788244
| ACTC1, GJD2-DT | | Dilated Cardiomyopathy, Dominant, Atrial septal defect, Familial restrictive cardiomyopathy,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229569804
- GRCh38:
- Chr1:229434057
| ACTA1, LOC122152321 | | Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion, not provided,
Actin accumulation myopathy | Benign
(Jul 3, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229569803-229569804
- GRCh38:
- Chr1:229434056-229434057
| ACTA1, LOC122152321 | | Congenital myopathy with fiber type disproportion, Nemaline myopathy, Familial restrictive cardiomyopathy
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229569803
- GRCh38:
- Chr1:229434056
| ACTA1, LOC122152321 | | Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion, not provided,
Actin accumulation myopathy | Benign
(Jul 3, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229568755
- GRCh38:
- Chr1:229433008
| ACTA1 | | Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy, Actin accumulation myopathy
| Conflicting interpretations of pathogenicity
(Mar 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229568720
- GRCh38:
- Chr1:229432973
| ACTA1 | | Familial restrictive cardiomyopathy, Actin accumulation myopathy, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229568300
- GRCh38:
- Chr1:229432553
| ACTA1 | | Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion, Actin accumulation myopathy,
not provided | Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229568084
- GRCh38:
- Chr1:229432337
| ACTA1 | | not provided, Familial restrictive cardiomyopathy, Actin accumulation myopathy,
Congenital myopathy with fiber type disproportion | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229567664-229567665
- GRCh38:
- Chr1:229431917-229431918
| ACTA1 | | Nemaline myopathy, Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229567662-229567663
- GRCh38:
- Chr1:229431915-229431916
| ACTA1 | | Actin accumulation myopathy, Congenital myopathy with fiber type disproportion, Nemaline myopathy,
Familial restrictive cardiomyopathy | Conflicting interpretations of pathogenicity
(Mar 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567660-229567661
- GRCh38:
- Chr1:229431913-229431914
| ACTA1 | | Nemaline myopathy, Actin accumulation myopathy, Congenital myopathy with fiber type disproportion,
Familial restrictive cardiomyopathy | Conflicting interpretations of pathogenicity
(Jun 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567492
- GRCh38:
- Chr1:229431745
| ACTA1 | | Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy, Actin accumulation myopathy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:229567267
- GRCh38:
- Chr1:229431520
| ACTA1 | I371M | Familial restrictive cardiomyopathy, Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201346758
- GRCh38:
- Chr1:201377630
| TNNT2 | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:201331069
- GRCh38:
- Chr1:201361941
| TNNT2 | I228V, I221V, I218V, I231V, I188V, I215V | Familial restrictive cardiomyopathy, Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D,
Cardiomyopathy, familial restrictive, 3, Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype,
Left ventricular noncompaction cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:201328272
- GRCh38:
- Chr1:201359144
| TNNT2 | | Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy,
Familial restrictive cardiomyopathy, not provided | Benign/Likely benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55672569
- GRCh38:
- Chr19:55161201
| DNAAF3, DNAAF3-AS1, TNNI3 | | not provided, Primary ciliary dyskinesia 2, Dilated Cardiomyopathy, Recessive,
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial restrictive cardiomyopathy, Ciliary dyskinesia,
not specified, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55672784
- GRCh38:
- Chr19:55161416
| DNAAF3, DNAAF3-AS1, TNNI3 | | Primary ciliary dyskinesia 2, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not provided, not specified,
Ciliary dyskinesia, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55673145
- GRCh38:
- Chr19:55161777
| DNAAF3, DNAAF3-AS1, TNNI3 | G224S, G245S, G177S, G123S | Ciliary dyskinesia, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not specified, not provided,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55673164
- GRCh38:
- Chr19:55161796
| DNAAF3, DNAAF3-AS1, TNNI3 | | Ciliary dyskinesia, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not provided, Hypertrophic cardiomyopathy,
not specified | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55673654
- GRCh38:
- Chr19:55162286
| DNAAF3, DNAAF3-AS1, TNNI3 | | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial restrictive cardiomyopathy,
not specified, not provided, Ciliary dyskinesia,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55670825
- GRCh38:
- Chr19:55159457
| DNAAF3, DNAAF3-AS1, TNNI3 | | Primary ciliary dyskinesia 2, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not specified, not provided,
Ciliary dyskinesia, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55670989
- GRCh38:
- Chr19:55159621
| DNAAF3, DNAAF3-AS1, TNNI3 | | Ciliary dyskinesia, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not specified, not provided,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55671374
- GRCh38:
- Chr19:55160006
| DNAAF3, DNAAF3-AS1, TNNI3 | | Primary ciliary dyskinesia 2, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not provided, Ciliary dyskinesia,
not specified, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55672055
- GRCh38:
- Chr19:55160687
| DNAAF3-AS1, DNAAF3, LOC130065090, TNNI3 | L381P, L402P, L280P, L334P | Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Familial restrictive cardiomyopathy,
not specified, not provided, Ciliary dyskinesia,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55672470
- GRCh38:
- Chr19:55161102
| DNAAF3, DNAAF3-AS1, TNNI3 | E339G, E360G, E238G, E292G | Primary ciliary dyskinesia 2, Dilated Cardiomyopathy, Recessive, Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,
Familial restrictive cardiomyopathy, not specified, Ciliary dyskinesia,
not provided, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229568304
- GRCh38:
- Chr1:229432557
| ACTA1 | | Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy, Congenital myopathy with fiber type disproportion,
Familial restrictive cardiomyopathy, not provided, not specified,
Actin accumulation myopathy, Congenital myopathy with fiber type disproportion | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229567591
- GRCh38:
- Chr1:229431844
| ACTA1 | | Actin accumulation myopathy, Congenital myopathy with fiber type disproportion, Familial restrictive cardiomyopathy,
not specified | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:32536144
- GRCh38:
- ChrX:32518027
| DMD | D758A, D635A, D754A, D750A | Cardiovascular phenotype, not specified, Dilated cardiomyopathy 3B,
Familial restrictive cardiomyopathy, Duchenne muscular dystrophy | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7576670
- GRCh38:
- Chr6:7576437
| DSP | R925Q | Cardiovascular phenotype, Familial restrictive cardiomyopathy, not specified,
not provided, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,
Cardiomyopathy, Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa,
Arrhythmogenic right ventricular dysplasia 8 | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:201330502
- GRCh38:
- Chr1:201361374
| TNNT2 | | Cardiovascular phenotype, Dilated Cardiomyopathy, Dominant, Familial restrictive cardiomyopathy,
not specified, Dilated cardiomyopathy 1D, Cardiomyopathy, familial restrictive, 3,
Hypertrophic cardiomyopathy 2, Cardiomyopathy, Hypertrophic cardiomyopathy,
Left ventricular noncompaction cardiomyopathy | Conflicting interpretations of pathogenicity
(Mar 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:55668992
- GRCh38:
- Chr19:55157624
| DNAAF3, TNNI3 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Familial restrictive cardiomyopathy,
not specified, Ciliary dyskinesia, Hypertrophic cardiomyopathy 7,
Cardiomyopathy, familial restrictive, 1, Dilated cardiomyopathy 2A, Hypertrophic cardiomyopathy
| Benign/Likely benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:55658397
- GRCh38:
- Chr19:55147029
| TNNI3, TNNT1 | | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, Dilated Cardiomyopathy, Recessive, Nemaline Myopathy, Recessive,
not specified, Familial restrictive cardiomyopathy, Nemaline myopathy 5,
Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229568625
- GRCh38:
- Chr1:229432878
| ACTA1 | | Familial restrictive cardiomyopathy, not specified, Actin accumulation myopathy,
Congenital myopathy with fiber type disproportion | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:229567384
- GRCh38:
- Chr1:229431637
| ACTA1 | | Familial restrictive cardiomyopathy, not specified, Actin accumulation myopathy,
Congenital myopathy with fiber type disproportion | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:229567663
- GRCh38:
- Chr1:229431916
| ACTA1 | | Familial restrictive cardiomyopathy, not specified, not provided,
Actin accumulation myopathy, Congenital myopathy with fiber type disproportion | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |