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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2
Single nucleotide variant
(splice acceptor variant)
Juvenile primary lateral sclerosis
GPathogenic
ALS2
(L623fs)
Deletion
(genic downstream transcript variant +1 more)
Infantile-onset ascending hereditary spastic paralysis
GPathogenic
ALS2
(G540E)
Single nucleotide variant
(missense variant)
Juvenile primary lateral sclerosis
GPathogenic
ALS2
(E476fs)
Microsatellite
(genic downstream transcript variant +1 more)
Juvenile primary lateral sclerosis
GPathogenic
ALS2
(T185fs)
Deletion
(frameshift variant)
Juvenile primary lateral sclerosis
GPathogenic
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