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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHOC2
(N434T +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome-like disorder with loose anagen hair 1
+2 more
GConflicting classifications of pathogenicity
ADRA2A, BBIP1
+7 more
Copy number gain
RASopathy
GUncertain significance