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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(S44L)
Single nucleotide variant
(missense variant)
SPAST-related disorder
+5 more
GBenign/Likely benign; other; risk factor
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
+1 more
GConflicting classifications of pathogenicity
SPAST
(Q503del +3 more)
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
(R561fs +3 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 4
GPathogenic
COL3A1
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
FGG
(R401W)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
TCF4
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
GNAS
(R150C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
OFD1, TRAPPC2
(Q125fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PHF6
(M1T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
+2 more
GPathogenic
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