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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1, LOC126862124
Microsatellite
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic