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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA2, ACTA2-AS1
(C176R +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2
(I73T)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
ACTA2, ACTA2-AS1
(E173D +2 more)
Single nucleotide variant
(missense variant +2 more)
Aortic aneurysm, familial thoracic 6
GPathogenic
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