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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIN2B
(V1411G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(G1026S)
Single nucleotide variant
(missense variant)
GRIN2B-related condition
+5 more
GConflicting classifications of pathogenicity
GRIN2B
(D977E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GRIN2B
(Y949H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(A734T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2B
(L608*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GRIN2B
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 27
+3 more
GBenign
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