"PreventionGenetics, part of Exact Sciences"[submitter] AND "SOD1"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054990	NM_000454.5(SOD1):c.-3G>A	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GLikely benign
Select item 14763	NM_000454.5(SOD1):c.14C>T (p.Ala5Val)	SOD1, SOD1-DT (A5V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +2 more	GPathogenic
Select item 1643211	NM_000454.5(SOD1):c.27G>A (p.Leu9=)	SOD1-DT, SOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1505077	NM_000454.5(SOD1):c.69G>C (p.Gln23His)	SOD1, SOD1-DT (Q23H)	Single nucleotide variant (missense variant)	SOD1-related disorder +1 more	GLikely pathogenic
Select item 1764704	NM_000454.5(SOD1):c.87A>G (p.Pro29=)	SOD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 14756	NM_000454.5(SOD1):c.131A>G (p.His44Arg)	SOD1 (H44R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic
Select item 1170537	NM_000454.5(SOD1):c.169+52_169+58del	SOD1	Deletion (intron variant)	SOD1-related disorder +2 more	GBenign/Likely benign
Select item 2050740	NM_000454.5(SOD1):c.170-19TTC[2]	SOD1	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 720157	NM_000454.5(SOD1):c.180T>C (p.Ser60=)	SOD1	Single nucleotide variant (synonymous variant)	SOD1-related disorder +3 more	GLikely benign
Select item 256202	NM_000454.5(SOD1):c.239+34A>C	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 932081	NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)	SOD1 (G86S)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +2 more	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 2634277	NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)	SOD1 (G94S)	Single nucleotide variant (missense variant)	SOD1-related disorder +1 more	GPathogenic
Select item 2652586	NM_000454.5(SOD1):c.297T>C (p.Ser99=)	SOD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 14757	NM_000454.5(SOD1):c.319C>G (p.Leu107Val)	SOD1 (L107V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic
Select item 899185	NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr)	SOD1 (D110Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 586633	NM_000454.5(SOD1):c.357+9T>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign/Likely benign
Select item 3041650	NM_000454.5(SOD1):c.357+36_357+38del	SOD1	Microsatellite (intron variant)	SOD1-related disorder	GLikely benign
Select item 3030324	NM_000454.5(SOD1):c.358-299A>G	SOD1	Single nucleotide variant (intron variant)	SOD1-related disorder	GLikely benign
Select item 1489352	NM_000454.5(SOD1):c.358G>C (p.Val120Leu)	SOD1 (V120L)	Single nucleotide variant (missense variant)	SOD1-related disorder +2 more	GLikely pathogenic
Select item 339669	NM_000454.5(SOD1):c.423T>A (p.Ala141=)	SOD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 256201	NM_000454.5(SOD1):c.*2C>T	SOD1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign

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Items: 23