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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(Q1253fs)
Deletion
(frameshift variant)
Pes planus
+8 more
GPathogenic
FBN1
(C494F)
Single nucleotide variant
(missense variant)
Lens subluxation
+3 more
GLikely pathogenic