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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(R1549* +2 more)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 6
+5 more
GPathogenic/Likely pathogenic
CACNA1A
(D1338Y +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
GUncertain significance