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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA1
(R112Q)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+5 more
GConflicting classifications of pathogenicity
GABRA1
(L215I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 19
GLikely pathogenic
GABRA1
(M263V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 19
GPathogenic
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