| - GRCh37:
- Chr10:90699424
- GRCh38:
- Chr10:88939667
| ACTA2, ACTA2-AS1 | | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Likely benign
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701066
- GRCh38:
- Chr10:88941309
| ACTA2 | R136L, R142L | Multisystemic smooth muscle dysfunction syndrome | Pathogenic
(Sep 11, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr10:90699383
- GRCh38:
- Chr10:88939626
| ACTA2-AS1, ACTA2 | A230G, A187G, A193G | Inborn genetic diseases, Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6,
Moyamoya disease 5, Familial thoracic aortic aneurysm and aortic dissection, not provided
| Uncertain significance
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701067
- GRCh38:
- Chr10:88941310
| ACTA2 | R142S, R136S | Multisystemic smooth muscle dysfunction syndrome | Pathogenic
(Sep 11, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr10:90708664
- GRCh38:
- Chr10:88948907
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90707010
- GRCh38:
- Chr10:88947253
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701146
- GRCh38:
- Chr10:88941389
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90699427
- GRCh38:
- Chr10:88939670
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity
(Apr 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90712560
- GRCh38:
- Chr10:88952803
| ACTA2 | | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90712541
- GRCh38:
- Chr10:88952784
| ACTA2 | | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome | Conflicting interpretations of pathogenicity
(Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90694876
- GRCh38:
- Chr10:88935119
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708581
- GRCh38:
- Chr10:88948824
| ACTA2 | I36T | not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90708610
- GRCh38:
- Chr10:88948853
| ACTA2 | D26E | Familial thoracic aortic aneurysm and aortic dissection, Inborn genetic diseases, Aortic aneurysm, familial thoracic 6,
Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5
| Uncertain significance
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90708555
- GRCh38:
- Chr10:88948798
| ACTA2 | | Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome,
Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90708554
- GRCh38:
- Chr10:88948797
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, Moyamoya disease 5,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701049
- GRCh38:
- Chr10:88941292
| ACTA2 | R185*, R142*, R148* | Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome,
not provided, Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90707099
- GRCh38:
- Chr10:88947342
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, not provided,
Familial thoracic aortic aneurysm and aortic dissection | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90703627
- GRCh38:
- Chr10:88943870
| ACTA2 | A99G, A56G | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5,
Connective tissue disorder, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90694822
- GRCh38:
- Chr10:88935065
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection
| Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750624
- GRCh38:
- Chr10:88990867
| ACTA2, FAS | | Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection, Multisystemic smooth muscle dysfunction syndrome,
Autoimmune lymphoproliferative syndrome type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750600
- GRCh38:
- Chr10:88990843
| ACTA2, FAS | | not provided, Familial thoracic aortic aneurysm and aortic dissection, not specified,
Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome, Autoimmune lymphoproliferative syndrome type 1
| Benign/Likely benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90750539
- GRCh38:
- Chr10:88990782
| ACTA2, FAS | | Moyamoya disease, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Multisystemic smooth muscle dysfunction syndrome, Autoimmune lymphoproliferative syndrome type 1 | Benign/Likely benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90750460
- GRCh38:
- Chr10:88990703
| ACTA2, FAS | | Familial thoracic aortic aneurysm and aortic dissection, Autoimmune lymphoproliferative syndrome type 1, Moyamoya disease,
Multisystemic smooth muscle dysfunction syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750339
- GRCh38:
- Chr10:88990582
| ACTA2, FAS | | Familial thoracic aortic aneurysm and aortic dissection, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome,
Autoimmune lymphoproliferative syndrome type 1 | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750297
- GRCh38:
- Chr10:88990540
| ACTA2, FAS | | Familial thoracic aortic aneurysm and aortic dissection, Autoimmune lymphoproliferative syndrome type 1, Moyamoya disease,
Multisystemic smooth muscle dysfunction syndrome | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750287
- GRCh38:
- Chr10:88990530
| ACTA2, FAS | | Familial thoracic aortic aneurysm and aortic dissection, Autoimmune lymphoproliferative syndrome type 1, Moyamoya disease,
Multisystemic smooth muscle dysfunction syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90750281-90750282
- GRCh38:
- Chr10:88990524-88990525
| ACTA2, FAS | | Autoimmune lymphoproliferative syndrome type 1, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection,
Multisystemic smooth muscle dysfunction syndrome | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90712579
- GRCh38:
- Chr10:88952822
| ACTA2 | | Familial thoracic aortic aneurysm and aortic dissection, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90712520
- GRCh38:
- Chr10:88952763
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90708675
- GRCh38:
- Chr10:88948918
| ACTA2 | E5Q | Multisystemic smooth muscle dysfunction syndrome, not provided, Aortic aneurysm, familial thoracic 6
| Uncertain significance
(Nov 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90703547
- GRCh38:
- Chr10:88943790
| ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity
(Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90701606
- GRCh38:
- Chr10:88941849
| ACTA2 | | not specified, Connective tissue disorder, not provided,
Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection
| Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90701579
- GRCh38:
- Chr10:88941822
| ACTA2 | | not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6,
not specified, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome
| Benign/Likely benign
(Jul 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90699250
- GRCh38:
- Chr10:88939493
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, not specified, Aortic aneurysm, familial thoracic 6
| Conflicting interpretations of pathogenicity
(Apr 7, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90694952
- GRCh38:
- Chr10:88935195
| ACTA2-AS1, ACTA2 | | Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90694937
- GRCh38:
- Chr10:88935180
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90694875
- GRCh38:
- Chr10:88935118
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90694858
- GRCh38:
- Chr10:88935101
| ACTA2, ACTA2-AS1 | | Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:90701067
- GRCh38:
- Chr10:88941310
| ACTA2 | R179C, R136C, R142C | Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, not provided,
Familial aortopathy | Pathogenic
(Apr 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90701576
- GRCh38:
- Chr10:88941819
| ACTA2 | | Familial thoracic aortic aneurysm and aortic dissection, Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90697872
- GRCh38:
- Chr10:88938115
| ACTA2, ACTA2-AS1 | | Familial thoracic aortic aneurysm and aortic dissection, Multisystemic smooth muscle dysfunction syndrome, not provided,
Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90697831
- GRCh38:
- Chr10:88938074
| ACTA2, ACTA2-AS1 | T326N, T289N, T262N, T283N | not provided, not specified, Aortic aneurysm, familial thoracic 6,
Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 6 | Uncertain significance
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90703600
- GRCh38:
- Chr10:88943843
| ACTA2 | T108M, T65M | Cardiovascular phenotype, Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome,
Moyamoya disease 5 | Uncertain significance
(Mar 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90695094-90695095
- GRCh38:
- Chr10:88935337-88935338
| ACTA2, ACTA2-AS1 | S340fs | Multisystemic smooth muscle dysfunction syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Uncertain significance
(Nov 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90703570
- GRCh38:
- Chr10:88943813
| ACTA2 | R118Q, R75Q | Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, Multisystemic smooth muscle dysfunction syndrome,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6
| Pathogenic/Likely pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:90707072
- GRCh38:
- Chr10:88947315
| ACTA2 | | not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:90701066
- GRCh38:
- Chr10:88941309
| ACTA2 | R179H, R142H, R136H | Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Moyamoya disease 5,
Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6 | Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |