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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SZT2
(Q166H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
GLikely pathogenic
SZT2
(R2185W +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic