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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2-AS1, ACTA2
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+3 more
GUncertain significance
ACTA2, ACTA2-AS1
(S370C +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
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ACTA2-AS1, ACTA2
(G270R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
(G247R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ACTA2, ACTA2-AS1
(K240N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+2 more
GConflicting classifications of pathogenicity
ACTA2, ACTA2-AS1
(R208C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic aneurysm, familial thoracic 6
+2 more
GUncertain significance
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