"Cirak Lab, University Hospital Cologne"[submitter] AND "ALS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183240	NM_020919.4(ALS2):c.4573dup (p.Val1525fs)	ALS2 (V1525fs)	Duplication (frameshift variant)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic/Likely pathogenic
Select item 694321	NM_020919.4(ALS2):c.3161T>C (p.Leu1054Pro)	ALS2 (L1054P)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 694319	NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)	ALS2 (A573E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile +1 more	GLikely pathogenic
Select item 694323	NM_020919.4(ALS2):c.1471+1G>A	ALS2	Single nucleotide variant (splice donor variant)	Infantile-onset ascending hereditary spastic paralysis	GLikely pathogenic
Select item 694320	NM_020919.4(ALS2):c.1044C>G (p.Tyr348Ter)	ALS2 (Y348*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis	GPathogenic
Select item 4415	NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)	ALS2 (C157Y)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GLikely pathogenic
Select item 694322	NM_020919.4(ALS2):c.275_276del (p.Tyr92fs)	ALS2 (Y92fs)	Microsatellite (frameshift variant)	Juvenile primary lateral sclerosis	GPathogenic

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