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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(T2297M)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
FBN1
(N2144S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic