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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(R330*)
Single nucleotide variant
(nonsense)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GPathogenic
MEF2C
(T51I)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
NRXN2
(L184R)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
CACNA1C
(L614P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+2 more
GConflicting classifications of pathogenicity
GRIN2B
(M706V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 6
+1 more
GLikely pathogenic
ATP8A2
(C628Y +1 more)
Single nucleotide variant
(missense variant)
Severe intellectual deficiency
+1 more
GUncertain significance
STRADA
(S264R +5 more)
Single nucleotide variant
(missense variant +1 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
DLG3
(S490N +2 more)
Single nucleotide variant
(missense variant)
Epilepsy
+1 more
GUncertain significance
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