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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A, LOC126862866
Deletion
(splice acceptor variant +1 more)
Episodic ataxia type 2
GLikely pathogenic
CACNA1A
(I108V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GLikely pathogenic