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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(I479fs +1 more)
Deletion
(frameshift variant)
Episodic ataxia type 2
+1 more
GLikely pathogenic
CACNA1A
(A446* +1 more)
Microsatellite
(nonsense)
Episodic ataxia type 2
+2 more
GPathogenic/Likely pathogenic