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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(I1892fs)
Insertion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C224F)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic