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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PI4KA
(D1633N +2 more)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PI4KA
(R596* +1 more)
Single nucleotide variant
PI4KA-related disorder
+1 more
GLikely pathogenic