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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2, ACTA2-AS1
(I332T +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
ACTA2, ACTA2-AS1
(M307T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA2
(D82E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
ACTA2
(I78del)
Microsatellite
(inframe deletion +2 more)
not provided
GUncertain significance
ACTA2
(A28V)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 6
+2 more
GUncertain significance
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