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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(D4192E +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(S2944fs +1 more)
Microsatellite
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic