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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(G4383C +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GUncertain significance
SACS
(C1895Y +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GUncertain significance
SACS
(R1845fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
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