"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ALS2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 242457	NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)	ALS2 (R1421*)	Single nucleotide variant (nonsense)	Juvenile primary lateral sclerosis +2 more	GLikely pathogenic
Select item 393199	NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	ALS2 (R1139*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis +4 more	GPathogenic/Likely pathogenic
Select item 580658	NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)	ALS2 (K1045M)	Single nucleotide variant (missense variant)	Juvenile primary lateral sclerosis +2 more	GUncertain significance
Select item 1219899	NM_020919.4(ALS2):c.2842-20C>T	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GBenign/Likely benign
Select item 1671695	NM_020919.4(ALS2):c.2170+19T>C	ALS2	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GLikely benign
Select item 533743	NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	ALS2 (Y411*)	Single nucleotide variant (nonsense)	Infantile-onset ascending hereditary spastic paralysis +2 more	GPathogenic
Select item 241307	NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	ALS2 (P372R)	Single nucleotide variant (missense variant)	ALS2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 241312	NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)	ALS2 (E159K)	Single nucleotide variant (missense variant)	ALS2-related disorder +6 more	GBenign/Likely benign