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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SORT1
(S746N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SORT1
(D358Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SORT1
Single nucleotide variant
(intron variant)
not provided
GBenign
SORT1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
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