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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIN2A
(R1451S)
Single nucleotide variant
(missense variant +1 more)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(V1444I)
Single nucleotide variant
(missense variant +1 more)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(N1436S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
GRIN2A
(H1278R)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(A1276G)
Single nucleotide variant
(missense variant +1 more)
GRIN2A-related condition
+5 more
GConflicting classifications of pathogenicity
GRIN2A
(W1271*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
GRIN2A
(R1241Q)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+2 more
GUncertain significance
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GRIN2A
(N1076K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRIN2A
(V967L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRIN2A
(T965I)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(Q964fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GRIN2A
(G951V)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+2 more
GBenign/Likely benign
GRIN2A
(I876T)
Single nucleotide variant
(missense variant)
GRIN2A-related condition
+3 more
GConflicting classifications of pathogenicity
GRIN2A
(H839Q)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GUncertain significance
GRIN2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
GRIN2A
(T722M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GRIN2A
(A716T)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GPathogenic/Likely pathogenic
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
GRIN2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(H485fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GRIN2A
(V452M)
Single nucleotide variant
(missense variant)
GRIN2A-related condition
+4 more
GConflicting classifications of pathogenicity
GRIN2A
(E448K)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(N447I)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
GRIN2A
(I422T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRIN2A
(V357M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(splice donor variant)
Landau-Kleffner syndrome
+1 more
GPathogenic/Likely pathogenic
GRIN2A
(P330L)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+2 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRIN2A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GRIN2A
(L246I)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+3 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIN2A
Single nucleotide variant
(synonymous variant)
Landau-Kleffner syndrome
+3 more
GConflicting classifications of pathogenicity
GRIN2A
(K221R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
GRIN2A
(T141M)
Single nucleotide variant
(missense variant)
GRIN2A-related condition
+4 more
GBenign/Likely benign
GRIN2A
(A136S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRIN2A
(G30D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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