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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRB3
(Y217C +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 43
+3 more
GPathogenic/Likely pathogenic
GABRB3
(R232P +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 5
GLikely pathogenic
GABRB3
(L52V)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence, susceptibility to, 1
+2 more
GPathogenic/Likely pathogenic
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