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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(Y1219C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(C684Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic