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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(V219fs +3 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
(L426V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GPathogenic
SPAST
(Q473* +3 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(R478fs +3 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic/Likely pathogenic
SPAST
(R499H +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
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