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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(R115C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GConflicting classifications of pathogenicity
SPAST
(S215N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
SPAST
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
+1 more
GPathogenic
SPAST
(Q347* +3 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
SPAST
(A340fs +3 more)
Deletion
(frameshift variant)
Spastic paraplegia
GPathogenic
SPAST
(L426F +3 more)
Single nucleotide variant
(missense variant)
Tip-toe gait
+6 more
GPathogenic/Likely pathogenic
SPAST
Deletion
(splice donor variant)
Hereditary spastic paraplegia 4
GPathogenic/Likely pathogenic
SPAST
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SPAST
(R499C +3 more)
Single nucleotide variant
(missense variant)
Spastic paraparesis
+3 more
GPathogenic/Likely pathogenic
SPAST
(A557G +3 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraparesis
GLikely pathogenic
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