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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRG2
(T90M +3 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+2 more
GConflicting classifications of pathogenicity
GABRG2
(A106T +4 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+4 more
GPathogenic/Likely pathogenic
GABRG2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 74
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 74
GUncertain significance
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