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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD2
(R462C +1 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 6
+1 more
GUncertain significance
SMAD2
(S220fs +1 more)
Deletion
(frameshift variant)
Loeys-Dietz syndrome 6
GPathogenic