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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(N4573H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SACS
(L4394fs +1 more)
Duplication
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(S3050fs +1 more)
Deletion
(frameshift variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(L1729* +1 more)
Single nucleotide variant
(nonsense)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
SACS
(P458L +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GLikely pathogenic
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