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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC130057019
(A18fs)
Deletion
(frameshift variant)
Marfan syndrome
GLikely pathogenic
FBN1, LOC130057019
(L16H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance