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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG11
(L1997fs)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SPG11
(E1026fs)
Duplication
(frameshift variant)
Abnormal central motor function
+3 more
GPathogenic
SPG11
(L438P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 11
GUncertain significance
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