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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(L1804F +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+2 more
Gnot provided
CACNA1A
(Q413*)
Single nucleotide variant
(nonsense)
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
(E400V)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+3 more
Gnot provided
CACNA1A, LOC126862866
(I346del)
Microsatellite
(inframe_deletion)
not provided
GPathogenic
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