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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAO1
(H57R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNAO1
(G133S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
GNAO1
(D167N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNAO1
(V186I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNAO1
(G203R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GPathogenic
GNAO1
(R209H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+3 more
GPathogenic
GNAO1
(A302T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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