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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPG11
(N2315T +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SPG11
(G2195A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG11
(C2178Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG11
(R2286* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia
+3 more
GPathogenic
SPG11
(S2165fs +1 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
SPG11
(F2176L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SPG11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
SPG11
(I1883N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPG11
(S1923fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
SPG11
(R1824Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+3 more
GConflicting classifications of pathogenicity
SPG11
(L1794P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SPG11
(L1517V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPG11
(S1481T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG11
(Q1330E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
SPG11
(S1184I)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+2 more
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPG11
(Q906fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
SPG11
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic
SPG11
(I722fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
SPG11
(T629N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG11
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPG11
(Q541*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPG11
(L520F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SPG11
(D269N)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+1 more
GUncertain significance
SPG11
(R93fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
SPG11
(R93H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+1 more
GUncertain significance
SPG11
(L26P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+1 more
GUncertain significance
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