C2931441[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188975	NM_020919.4(ALS2):c.4627-69T>A	ALS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 261379	NM_020919.4(ALS2):c.4581-48T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +4 more	GBenign
Select item 261378	NM_020919.4(ALS2):c.4580+7G>A	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1189020	NM_020919.4(ALS2):c.4123-64G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +3 more	GBenign
Select item 261377	NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	ALS2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 261375	NM_020919.4(ALS2):c.4004+25C>T	ALS2	Single nucleotide variant (intron variant)	Juvenile primary lateral sclerosis +4 more	GBenign
Select item 261368	NM_020919.4(ALS2):c.2466G>A (p.Val822=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GBenign
Select item 1188874	NM_020919.4(ALS2):c.2171-62C>T	ALS2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 261364	NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	ALS2 (V368M)	Single nucleotide variant (missense variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 261367	NM_020919.4(ALS2):c.20+7T>C	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign