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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDFY3
(Y2639*)
Single nucleotide variant
(nonsense)
Neurodevelopmental delay
GPathogenic
BRSK2
(K479N +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
GLikely pathogenic