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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A
(T367I)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
ARID1B
Single nucleotide variant
(synonymous variant)
ARID1B-related BAFopathy
+12 more
GConflicting classifications of pathogenicity
TSC1
(Y150* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
+2 more
GPathogenic
CRADD
(R168Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHD2
(R1826W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
+1 more
GUncertain significance
MVP-DT, PRRT2
(R217fs)
Duplication
(frameshift variant)
Episodic kinesigenic dyskinesia
+14 more
GPathogenic/Likely pathogenic
KCNQ2
(G30S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
EEF1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 33
+3 more
GUncertain significance
PCDH19
(V351fs)
Microsatellite
(frameshift variant)
Seizure
GLikely pathogenic
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