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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(R4325* +1 more)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
SACS
(W3701R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance