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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAO1
(G203R)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+5 more
GPathogenic
GNAO1
(F251I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
GLikely pathogenic