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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GConflicting classifications of pathogenicity
SPG11
(R2318C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GUncertain significance
SPG11
(R2137* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
SPG11
(L1794P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SPG11
(F1626fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GLikely pathogenic
LOC130056973, SPG11
(Q1436fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+2 more
GPathogenic
SPG11
(G1262V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
+4 more
GConflicting classifications of pathogenicity
SPG11
(R651*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+1 more
GPathogenic
SPG11
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 11
GUncertain significance
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