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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A, LOC130063717
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GConflicting classifications of pathogenicity
CACNA1A, LOC130063717
(G2252C +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance