S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Links from PubMed

Items: 7

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:90697831
GRCh38:
Chr10:88938074
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Thoracic aortic aneurysm and aortic dissectionUncertain significance
(May 17, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr10:90708573
GRCh38:
Chr10:88948816
ACTA2Aortic aneurysm, familial thoracic 6, Thoracic aortic aneurysm and aortic dissection, not provided
Pathogenic/Likely pathogenic
(May 22, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:90699437
GRCh38:
Chr10:88939680
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Thoracic aortic aneurysm and aortic dissection, not provided
Pathogenic/Likely pathogenic
(Nov 6, 2017)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr10:90701066
GRCh38:
Chr10:88941309
ACTA2Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5,
Thoracic aortic aneurysm and aortic dissection, not provided, alterations of great arteries and veins,
Connective tissue disorder
Pathogenic
(Mar 16, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:90699300
GRCh38:
Chr10:88939543
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, Thoracic aortic aneurysm and aortic dissection,
not provided
Pathogenic/Likely pathogenic
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr10:90699299
GRCh38:
Chr10:88939542
ACTA2, ACTA2-AS1Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, not provided
Pathogenic
(Oct 21, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:90701551
GRCh38:
Chr10:88941794
ACTA2Aortic aneurysm, familial thoracic 6, Thoracic aortic aneurysm and aortic dissection, not provided
Pathogenic
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center