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Links from MedGen

Items: 1 to 100 of 1022

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(N546fs +3 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
(R339fs +3 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(Y236* +3 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(E156* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(P41T)
Indel
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 4
+1 more
GLikely benign
SPAST
(G8E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(T275P +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(L525P +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(L501I +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(H70L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(P34T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(I560R +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(C219Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(P99S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Microsatellite
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(L239F +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(P304A +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(E355* +3 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(A393P +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(N212S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(D313fs +3 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Deletion
(intron variant)
Hereditary spastic paraplegia 4
GBenign
SPAST
(G6*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(L73fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(R507* +3 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(D509H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Duplication
(splice donor variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(F75fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(P99L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(T305A +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Insertion
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(S272Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(F124fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(L50P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(N217K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(T254fs +3 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(N454K +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(L489fs +3 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(F394L +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(H423Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(T273A +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(Q566P +3 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
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(H70N)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(Q519fs +4 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Deletion
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(T356I +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(K138fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(K381Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(L489S +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(L488Q +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 4
GLikely benign
SPAST
(P56R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Duplication
(intron variant)
Hereditary spastic paraplegia 4
GBenign
SPAST
(T583I +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
(T614fs +3 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
(D523G +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(A551P +3 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 4
GPathogenic
SPAST
(E431A +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
GLikely pathogenic
SPAST
Duplication
(splice donor variant)
Hereditary spastic paraplegia 4
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 4
GUncertain significance
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