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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(S44L)
Single nucleotide variant
(missense variant)
SPAST-related disorder
+5 more
GBenign/Likely benign; other; risk factor
SPAST
(S399L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GPathogenic/Likely pathogenic
SPAST
(R460C +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+2 more
GPathogenic
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