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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD2
(Q366*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy 94
+1 more
GPathogenic
CHD2
(K1245fs)
Deletion
(frameshift variant)
History of neurodevelopmental disorder
+2 more
GConflicting classifications of pathogenicity