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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD2
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy 94
GUncertain significance