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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2
Deletion
(splice donor variant)
Congenital contractural arachnodactyly
GLikely pathogenic
FBN2
(Q31*)
Single nucleotide variant
(nonsense)
Congenital contractural arachnodactyly
GLikely pathogenic