"MGZ Medical Genetics Center"[submitter] AND "SOD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873322	NM_000454.5(SOD1):c.43G>A (p.Val15Met)	SOD1, SOD1-DT (V15M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic/Likely pathogenic
Select item 1709733	NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)	SOD1 (N66S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic/Likely pathogenic
Select item 14766	NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	SOD1 (D91A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	SOD1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 805495	NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)	SOD1 (R116G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1708986	NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)	SOD1 (D126Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance

ClinVar