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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIN2A
(S554T)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GPathogenic
GRIN2B
(S541G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
GPathogenic
POU3F3
(E414*)
Single nucleotide variant
(nonsense)
Intellectual disability
GPathogenic
GRIN1
(M641L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 8
GPathogenic
GRIN2B
(S555N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GUncertain significance
SMARCA2
(R525H)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
SMARCA2
(R505Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
SMARCA2
(G513V)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
SMARCA2
(R525C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SMARCA2
(L529V)
Single nucleotide variant
(missense variant)
Nicolaides-Baraitser syndrome
GPathogenic
SMARCA2
(N486K)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SMARCA2
(I874T +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SMARCA2
(L719P)
Single nucleotide variant
(missense variant)
Chiari malformation
GUncertain significance
SMARCA2
(R879H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
SMARCA2
(R879L +1 more)
Single nucleotide variant
(missense variant)
Blepharophimosis-impaired intellectual development syndrome
+1 more
GPathogenic/Likely pathogenic
SMARCA2
(K1014E +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SMARCA2
(R879C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
SMARCA2
(E871V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
SMARCA2
(D534N)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
GRIN2A
(T646A)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
SMARCA2
(H484N)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
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