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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD2
(L79P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GConflicting classifications of pathogenicity
CHD2
(T645K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
CHD2
(V883del)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
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