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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(D1644N +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(D1634N +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CACNA1A
(F1489S +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
GLikely pathogenic
CACNA1A
Duplication
(inframe_insertion)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(G1090C +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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