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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(E280K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
PI4KA
(Q1923E +2 more)
Single nucleotide variant
(missense variant)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
GUncertain significance