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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPO
(R225H)
Single nucleotide variant
(missense variant)
Pyridoxal phosphate-responsive seizures
+2 more
GPathogenic
PNPO
(R233W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance