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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARX, LOC109610631
Deletion
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
ARX, LOC109610631
(E124*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
GPathogenic