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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAO1
(L160P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+2 more
GUncertain significance
GNAO1
(G203R)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+5 more
GPathogenic
GNAO1
(A227V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+3 more
GPathogenic/Likely pathogenic
GNAO1
(E237K)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
GNAO1
(I286F)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+2 more
GUncertain significance
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