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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC33A1
(S400L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SLC33A1
(N484T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign