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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUSAP1
(Y340* +4 more)
Single nucleotide variant
(nonsense)
Microcephaly, seizures, and developmental delay
GLikely pathogenic
PNKP
(T323M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity