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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SACS
(N1489S +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
SACS
(R728* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic