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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(A712S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GPathogenic
CACNA1A
(A713T +1 more)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+7 more
GPathogenic/Likely pathogenic