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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAO1
(G352S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+1 more
GLikely pathogenic
GNAO1
(Q173L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GUncertain significance
GNAO1
(N316fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with involuntary movements
GUncertain significance
GNAO1
(G2R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GLikely pathogenic
GNAO1
(I19M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+1 more
GLikely pathogenic
GNAO1
(G42R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GPathogenic
GNAO1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
GNAO1
(D328Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GLikely pathogenic
GNAO1
(K317R)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with involuntary movements
GUncertain significance
GNAO1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 17
+1 more
GUncertain significance
GNAO1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with involuntary movements
+1 more
GUncertain significance
GNAO1
(L160P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+2 more
GUncertain significance
GNAO1
(K46N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GLikely pathogenic
GNAO1
(L250F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GConflicting classifications of pathogenicity
GNAO1
(S282P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GLikely pathogenic
GNAO1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
GNAO1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with involuntary movements
GPathogenic
GNAO1
(D273Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GLikely pathogenic
GNAO1
(N270K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GLikely pathogenic
GNAO1
(L157P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GLikely pathogenic
GNAO1
(S229R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
GLikely pathogenic
GNAO1
(C325G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GUncertain significance
GNAO1
(N150H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+3 more
GConflicting classifications of pathogenicity
GNAO1
(I286F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+2 more
GUncertain significance
GNAO1
(E246Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+1 more
GLikely pathogenic
GNAO1
(G40V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+1 more
GLikely pathogenic
GNAO1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
GNAO1
(V202I)
Single nucleotide variant
(missense variant)
GNAO1-related disorder
+2 more
GConflicting classifications of pathogenicity
GNAO1
(A221D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GLikely pathogenic
GNAO1
(K271E)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
GNAO1
(T48I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GNAO1
(E246G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GPathogenic
GNAO1
(R209G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GPathogenic
GNAO1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with involuntary movements
+5 more
GPathogenic/Likely pathogenic
GNAO1
(E237K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+3 more
GPathogenic/Likely pathogenic
GNAO1
(Y231C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GNAO1
(R209C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic
GNAO1
(A227V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 17
+3 more
GPathogenic/Likely pathogenic
GNAO1
(E246K)
Single nucleotide variant
(missense variant)
GNAO1-related developmental delay-seizures-movement disorder spectrum
+6 more
GPathogenic
GNAO1
(R209H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+3 more
GPathogenic
GNAO1
(G203R)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GPathogenic
GNAO1
(D174G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
+1 more
GPathogenic
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