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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1E
(R364*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 69
GLikely pathogenic
CACNA1E
(T1845S +1 more)
Single nucleotide variant
not provided
GUncertain significance