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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A, LOC126862864
(V1393M +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+7 more
GPathogenic/Likely pathogenic
CACNA1A
(S1343P +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(S615R +1 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+4 more
GConflicting classifications of pathogenicity
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