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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAO1
(D151N)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
GLikely pathogenic
GNAO1
(R209C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+5 more
GPathogenic
GNAO1
(E246K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+6 more
GPathogenic
GNAO1
(L250F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GConflicting classifications of pathogenicity
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