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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIK2
(H136Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GUncertain significance
GRIK2
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GLikely pathogenic
GRIK2
(R727*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GUncertain significance
GRIK2
(Q119*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GLikely pathogenic
GRIK2
(T644S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
GUncertain significance
GRIK2
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 6
+1 more
GUncertain significance
GRIK2
(T69A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
+1 more
GUncertain significance
GRIK2
(T660R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
+3 more
GPathogenic
GRIK2
(A657T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
+2 more
GPathogenic
GRIK2
(T660K)
Single nucleotide variant
(missense variant)
GRIK2-related neurodevelopmental disorder
GPathogenic
GRIK2
(V766I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
+2 more
GBenign/Likely benign
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