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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIB
(R35C +5 more)
Single nucleotide variant
(missense variant +1 more)
Macrocephaly, acquired, with impaired intellectual development
+1 more
GPathogenic/Likely pathogenic
GBA2, MPDZ
+195 more
Copy number gain
not provided
GPathogenic