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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(S44L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+5 more
GBenign/Likely benign; other; risk factor
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
+3 more
GBenign/Likely benign
SPAST
(R460C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SPAST
(R499H +3 more)
Single nucleotide variant
(missense variant)
SPAST-related disorder
+5 more
GPathogenic/Likely pathogenic
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