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Items: 5

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
(C570S)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
GPathogenic
FBN1
(C570R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(P175S)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
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