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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
(E891K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome
+2 more
GConflicting classifications of pathogenicity
SOS1
(R552S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GPathogenic