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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNKP
(R462P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GConflicting classifications of pathogenicity
PNKP
(L399P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic