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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(L2300fs +1 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
+1 more
GConflicting classifications of pathogenicity
SPG11
(Q2042fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(R2034*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
SPG11
(L1997fs)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(S1923fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
SPG11
(L1794P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+7 more
GConflicting classifications of pathogenicity
SPG11
(E1678*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L1470fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056973, SPG11
(L1431fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(K1222fs)
Insertion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
SPG11
(I1150fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E1026fs)
Duplication
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
+2 more
GConflicting classifications of pathogenicity
SPG11
(L950fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic/Likely pathogenic
SPG11
(Q914*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(R788fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(N780fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(R651*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPG11
(L613fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(S607fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L491fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(V432fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(S412*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic/Likely pathogenic
SPG11
(D402fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
(H377fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(M245fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2X
+6 more
GPathogenic
SPG11
(H235fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
Duplication
Hereditary spastic paraplegia 11
GPathogenic
Deletion
Hereditary spastic paraplegia 11
GPathogenic
Deletion
Hereditary spastic paraplegia 11
GPathogenic
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