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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2, LOC126807501
(A1056S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
FBN2, LOC126807501
(H1014P)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+2 more
GLikely benign
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
FBN2, LOC126807501
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
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