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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
GUncertain significance
FBN1
(S2148P)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(C1874R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C271S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(G171E)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
GLikely pathogenic
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