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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(Q2196* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
+1 more
GPathogenic/Likely pathogenic
SPG11
(S2165fs +1 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
SPG11
(S1923fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
SPG11
(E1026fs)
Duplication
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic
SPG11
(K1013E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPG11
(Q498*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPG11
(S261*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 11
GPathogenic
SPG11
(M245fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
+6 more
GPathogenic
SPG11
(A106fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 11
GPathogenic
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