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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIN2B
(N1470S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(N1459del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(S1415W)
Single nucleotide variant
(missense variant)
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
+1 more
GUncertain significance
GRIN2B
(S1415L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+2 more
GUncertain significance
GRIN2B
(Y1371C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GRIN2B
(A1350V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(Q1136H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
GRIN2B
(R1110H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRIN2B
(Y1109C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(S1033R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GRIN2B
(G1026S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
GRIN2B
(R1016K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GRIN2B
(D977E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GRIN2B
(I925V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(V883A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GBenign/Likely benign
GRIN2B
(M829I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(M818L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GRIN2B
(G771R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
Deletion
(splice donor variant)
not provided
GPathogenic
GRIN2B
(V569I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+2 more
GUncertain significance
GRIN2B
(Y476C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GRIN2B
(M430L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(D286G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(V269L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(F182V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
Single nucleotide variant
(synonymous variant)
Intellectual disability, autosomal dominant 6
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(R67Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(D46N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GRIN2B
(P32T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(W13L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+2 more
GConflicting classifications of pathogenicity
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