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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA1
(R147Q)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+3 more
GConflicting classifications of pathogenicity
GABRA1
(R214C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
GABRA1
(T295I)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+4 more
GConflicting classifications of pathogenicity
GABRA1
(S423L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 19
GUncertain significance
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