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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(E2130K)
Single nucleotide variant
(missense variant)
not provided
+11 more
GPathogenic/Likely pathogenic
FBN1
(G1042S)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GPathogenic/Likely pathogenic
FBN1
(P175S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
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