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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4S1
(K10R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AP4S1
(R28H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance