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Items: 1 to 100 of 361

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(E841fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(G2067fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Y875*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(N1369fs)
Indel
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I2062fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(T1764fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(G2069fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1888* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1624*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(D1912fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(W338*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(C2090fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q2150* +2 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I1221fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056973, SPG11
(M1418fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(D1512fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(C1734fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(K825fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1808* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(R48fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1231*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(E786*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(C1818* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(Y2121* +2 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(W1176*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E1026fs)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Y995*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(H1590fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(S1015*)
Duplication
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Y1950fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L744fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1994fs +1 more)
Microsatellite
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q382*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Duplication
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E52*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E1023*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(W856*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(F1626fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Deletion
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Y995fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L493*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q637*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(A1059*)
Indel
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1767* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Deletion
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E797fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1576fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(K140fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(S2165fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(S1961fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(T2003fs +2 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(R1952fs +1 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L193fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1612*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(H1884fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(T614fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(V443fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1624fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
LOC130056971, SPG11
(S1753*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I2277fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I1327fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(I1172fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1097*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Indel
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(R1869fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(W1721fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E243fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q341*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(D1049fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(M2172fs +2 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(N2249* +2 more)
Duplication
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(A2029fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(I1975fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q972*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(L2047* +2 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056971, SPG11
(Q1755*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(K1356fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice acceptor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(F708fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
SPG11
(K1990fs +2 more)
Insertion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
LOC130056971, SPG11
(S1750fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(V274fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E1816fs +1 more)
Microsatellite
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(S1358fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(E667*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(Q1114*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(K1740fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 11
GPathogenic
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