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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(C2289S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(P2233S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(C1971G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C1652S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
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