"Athena Diagnostics"[submitter] AND "SOD1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14765	NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)	SOD1, SOD1-DT (A5T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic
Select item 14763	NM_000454.5(SOD1):c.14C>T (p.Ala5Val)	SOD1, SOD1-DT (A5V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 586638	NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)	SOD1, SOD1-DT (G17A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1256557	NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)	SOD1	Deletion (inframe_deletion)	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 14753	NM_000454.5(SOD1):c.115C>G (p.Leu39Val)	SOD1 (L39V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 14756	NM_000454.5(SOD1):c.131A>G (p.His44Arg)	SOD1 (H44R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +2 more	GPathogenic
Select item 14764	NM_000454.5(SOD1):c.140A>G (p.His47Arg)	SOD1 (H47R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1200656	NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)	SOD1 (F65L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 805494	NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr)	SOD1 (D77Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 995270	NM_000454.5(SOD1):c.239+6A>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 567744	NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)	SOD1 (A90T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14766	NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	SOD1 (D91A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14783	NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)	SOD1 (D97N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574319	NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)	SOD1 (E101K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 586632	NM_000454.5(SOD1):c.325G>C (p.Gly109Arg)	SOD1 (G109R)	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 +2 more	GPathogenic/Likely pathogenic
Select item 805495	NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)	SOD1 (R116G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 448436	NM_000454.5(SOD1):c.355G>C (p.Val119Leu)	SOD1 (V119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807416	NM_000454.5(SOD1):c.357+3A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 586633	NM_000454.5(SOD1):c.357+9T>C	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 586634	NM_000454.5(SOD1):c.374A>C (p.Asp125Ala)	SOD1 (D125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807417	NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)	SOD1 (E134A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 873202	NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)	SOD1 (T138A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586635	NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)	SOD1 (N140K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic
Select item 586636	NM_000454.5(SOD1):c.422C>G (p.Ala141Gly)	SOD1 (A141G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 339669	NM_000454.5(SOD1):c.423T>A (p.Ala141=)	SOD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 14768	NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)	SOD1 (L145S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 586637	NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)	SOD1 (L145F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 536142	NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)	SOD1 (G148D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1455194	NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)	SOD1 (I150T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 30