ClinVar for MedGen (Select 1684731) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442105	NM_000454.5(SOD1):c.347G>A (p.Arg116His)	SOD1 (R116H)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +2 more	GConflicting classifications of pathogenicity
Select item 1192293	NM_000454.5(SOD1):c.357_357+2del	SOD1	Microsatellite (splice donor variant)	Spastic tetraplegia and axial hypotonia, progressive	GLikely pathogenic
Select item 932081	NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)	SOD1 (G86S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 873196	NM_000454.5(SOD1):c.95T>C (p.Val32Ala)	SOD1 (V32A)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +2 more	GConflicting classifications of pathogenicity
Select item 624202	NM_000454.5(SOD1):c.335dup (p.Cys112fs)	SOD1 (C112fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14754	NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)	SOD1 (G42S)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +1 more	GPathogenic

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