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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA2
(T337A +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GABRA2
(N318S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GUncertain significance
GABRA2
(N335H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GUncertain significance
GABRA2
(T233A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GConflicting classifications of pathogenicity
GABRA2
(M10T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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