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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WASHC5
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 8
+1 more
GUncertain significance
DDHD1
(E860* +2 more)
Single nucleotide variant
(nonsense)
Spasticity
GUncertain significance
PLP1, RAB9B
(R9*)
Single nucleotide variant
(nonsense +1 more)
Spasticity
GLikely pathogenic
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