"Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873321	NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)	SOD1, SOD1-DT (A5S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 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 873323	NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)	SOD1, SOD1-DT (Q23L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	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 549678	NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)	SOD1 (G38R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 575420	NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)	SOD1 (E41G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GConflicting classifications of pathogenicity
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 873197	NM_000454.5(SOD1):c.205T>C (p.Ser69Pro)	SOD1 (S69P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 873198	NM_000454.5(SOD1):c.214C>T (p.His72Tyr)	SOD1 (H72Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 468253	NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)	SOD1 (N87S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 873199	NM_000454.5(SOD1):c.262G>A (p.Val88Met)	SOD1 (V88M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 14766	NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	SOD1 (D91A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 809280	NM_000454.5(SOD1):c.352C>G (p.Leu118Val)	SOD1 (L118V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 873200	NM_000454.5(SOD1):c.376G>A (p.Asp126Asn)	SOD1 (D126N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1064422	NM_000454.5(SOD1):c.396T>G (p.Asn132Lys)	SOD1 (N132K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 873201	NM_000454.5(SOD1):c.400G>A (p.Glu134Lys)	SOD1 (E134K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
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 873203	NM_000454.5(SOD1):c.435G>T (p.Leu145Phe)	SOD1 (L145F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 873204	NM_000454.5(SOD1):c.446T>G (p.Val149Gly)	SOD1 (V149G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic/Likely pathogenic

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Items: 20