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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2
(S1260P)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely pathogenic
FBN2
(R509L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity