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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(L339F +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GLikely pathogenic
SPAST
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 4
+4 more
GPathogenic/Likely pathogenic
SPAST
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 4
GLikely pathogenic
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