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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
(E1049K)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN2, LOC126807501
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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