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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP5Z1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+2 more
GBenign/Likely benign
AP5Z1
(K525Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 48
+3 more
GConflicting classifications of pathogenicity
AP5Z1
(R711G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 48
+2 more
GUncertain significance
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