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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(P4S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPAST
(G37R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GConflicting classifications of pathogenicity
SPAST
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 4
+1 more
GPathogenic
SPAST
(H230R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPAST
(H231R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPAST
(V278M +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SPAST
(P253T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPAST
(G259C +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GUncertain significance
SPAST
(K267fs +3 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SPAST
Insertion
(frameshift variant)
not provided
GLikely pathogenic
SPAST
(R339K +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SPAST
(S399L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GPathogenic/Likely pathogenic
SPAST
(K381E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPAST
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 4
+4 more
GPathogenic/Likely pathogenic
SPAST
(R418K +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GUncertain significance
SPAST
(R460C +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SPAST
Duplication
(splice donor variant)
not provided
GPathogenic
SPAST
Single nucleotide variant
(intron variant)
not provided
GPathogenic/Likely pathogenic
SPAST
(R499H +3 more)
Single nucleotide variant
(missense variant)
Abnormal central motor function
+5 more
GPathogenic/Likely pathogenic
SPAST
(G493fs +3 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
+1 more
GPathogenic/Likely pathogenic
SPAST
(R562* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 4
+2 more
GPathogenic
SPAST
(R562Q +3 more)
Single nucleotide variant
(missense variant +1 more)
SPAST-related disorder
+3 more
GPathogenic/Likely pathogenic
SPAST
(S588P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SPAST
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SPAST
(I592K +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 4
+1 more
GPathogenic/Likely pathogenic
SPAST
(I605V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
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