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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGDH
(R393W +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 84
GLikely pathogenic
UGDH
(R317Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 84
GPathogenic/Likely pathogenic