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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(L4485S +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(R2119* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
SACS
(S1368I +1 more)
Single nucleotide variant
(missense variant)
Charlevoix-Saguenay spastic ataxia
GPathogenic
SACS
(N1019D +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
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