U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIK2
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal recessive 6
+1 more
GUncertain significance
GRIK2
(R543H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
+2 more
GUncertain significance
GRIK2
(M323I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(L875F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(T380S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(R358L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(D308N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
+1 more
GConflicting classifications of pathogenicity
GRIK2
(G221D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(M770I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
GUncertain significance
GRIK2
(V766I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal recessive 6
+2 more
GBenign/Likely benign
GRIK2
(P205S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRIK2
(R198*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal recessive 6
GPathogenic
GRIK2
Complex
Intellectual disability, autosomal recessive 6
GPathogenic
Format
Items per page
Sort by
Choose Destination