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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD2
(L628*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
GPathogenic
CHD2
(H1781D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance