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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGO1
(H604fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
GUncertain significance
AGO1
(M328I +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
GUncertain significance
AGO1
(A338V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AGO1
(R304H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
GUncertain significance
AGO1
(Q384R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
GUncertain significance
AGO1, LOC129930123
(V179I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGO1
(G124S +1 more)
Single nucleotide variant
(missense variant)
AGO1-related neurodevelopmental disorder
+1 more
GPathogenic/Likely pathogenic
AGO1
(L115R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
+1 more
GPathogenic/Likely pathogenic
AGO1
(E120K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AGO1
(L115P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AGO1
(F180del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
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