CN169291[trait identifier] AND "PreventionGenetics, part of Exact Scie - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261378	NM_020919.4(ALS2):c.4580+7G>A	ALS2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 261377	NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)	ALS2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 261374	NM_020919.4(ALS2):c.3885G>A (p.Ala1295=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 417159	NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +5 more	GConflicting classifications of pathogenicity
Select item 699737	NM_020919.4(ALS2):c.3462G>A (p.Gln1154=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +2 more	GBenign/Likely benign
Select item 465189	NM_020919.4(ALS2):c.3309T>C (p.His1103=)	ALS2	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 2, juvenile +3 more	GBenign/Likely benign
Select item 261369	NM_020919.4(ALS2):c.2796C>T (p.Ser932=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +4 more	GBenign
Select item 446821	NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del)	ALS2	Deletion (inframe_deletion)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 261368	NM_020919.4(ALS2):c.2466G>A (p.Val822=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +5 more	GBenign
Select item 465186	NM_020919.4(ALS2):c.2171-7G>A	ALS2	Single nucleotide variant (intron variant)	Infantile-onset ascending hereditary spastic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 261366	NM_020919.4(ALS2):c.1816-8C>T	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 695972	NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	ALS2 (D543N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 261364	NM_020919.4(ALS2):c.1102G>A (p.Val368Met)	ALS2 (V368M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 3060192	NM_020919.4(ALS2):c.792A>G (p.Thr264=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder	GLikely benign
Select item 856390	NM_020919.4(ALS2):c.725T>C (p.Met242Thr)	ALS2 (M242T)	Single nucleotide variant (missense variant)	ALS2-related disorder +3 more	GUncertain significance
Select item 533751	NM_020919.4(ALS2):c.576G>C (p.Pro192=)	ALS2	Single nucleotide variant (synonymous variant)	ALS2-related disorder +2 more	GLikely benign
Select item 1598300	NM_020919.4(ALS2):c.300C>T (p.Ser100=)	ALS2	Single nucleotide variant (synonymous variant)	Infantile-onset ascending hereditary spastic paralysis +1 more	GBenign/Likely benign
Select item 261370	NM_020919.4(ALS2):c.280A>G (p.Ile94Val)	ALS2 (I94V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 261367	NM_020919.4(ALS2):c.20+7T>C	ALS2	Single nucleotide variant (intron variant)	not provided +5 more	GBenign