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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2, LOC126807501
(R1054C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
FBN2, LOC126807501
(E1036K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity