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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(P34L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(E43D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GConflicting classifications of pathogenicity
SPAST
(S54C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+2 more
GUncertain significance
SPAST
(V76L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(I133V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia
+1 more
GLikely pathogenic
SPAST
(S366* +3 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
(M450R +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(A495V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic/Likely pathogenic
SPAST
(D542G +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
+4 more
GConflicting classifications of pathogenicity
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
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