ClinVar for Gene (Select 6647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377406	NM_000454.5(SOD1):c.378dup (p.Lys129fs)	SOD1 (K129fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 3359787	NM_000454.5(SOD1):c.142G>A (p.Val48Ile)	SOD1 (V48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350974	NM_000454.5(SOD1):c.358-295A>G	SOD1	Single nucleotide variant (intron variant)	SOD1-related disorder	GLikely benign
Select item 3349795	NM_000454.5(SOD1):c.142G>T (p.Val48Phe)	SOD1 (V48F)	Single nucleotide variant (missense variant)	SOD1-related disorder	GLikely pathogenic
Select item 3348663	NM_000454.5(SOD1):c.8C>T (p.Thr3Met)	SOD1, SOD1-DT (T3M)	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GUncertain significance
Select item 3348117	NM_000454.5(SOD1):c.421G>C (p.Ala141Pro)	SOD1 (A141P)	Single nucleotide variant (missense variant)	SOD1-related disorder	GUncertain significance
Select item 3345780	NM_000454.5(SOD1):c.201_207del (p.Leu68fs)	SOD1 (L68fs)	Deletion (frameshift variant)	SOD1-related disorder	GLikely pathogenic
Select item 3345429	NM_000454.5(SOD1):c.32G>C (p.Gly11Ala)	SOD1, SOD1-DT (G11A)	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GPathogenic
Select item 3335974	NM_000454.5(SOD1):c.464A>C (p.Ter155Ser)	SOD1	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3234683	NM_000454.5(SOD1):c.80_85dup (p.Gly28_Pro29insHisGly)	SOD1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3068571	NM_000454.5(SOD1):c.449T>G (p.Ile150Ser)	SOD1 (I150S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
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 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 2918340	NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)	SOD1 (S60N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2913075	NM_000454.5(SOD1):c.240-9_240-6del	SOD1	Deletion (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2910667	NM_000454.5(SOD1):c.408A>G (p.Thr136=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2910551	NM_000454.5(SOD1):c.321C>T (p.Leu107=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2871244	NM_000454.5(SOD1):c.450T>C (p.Ile150=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2866770	NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)	SOD1, SOD1-DT (Q23P)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2864516	NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)	SOD1 (G148del)	Microsatellite (inframe_deletion)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2857833	NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)	SOD1, SOD1-DT (N20I)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2817285	NM_000454.5(SOD1):c.278A>T (p.Asp93Val)	SOD1 (D93V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2736984	NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)	SOD1 (D102N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2727345	NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)	SOD1 (G130R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 2723675	NM_000454.5(SOD1):c.444T>C (p.Gly148=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2723039	NM_000454.5(SOD1):c.72+20C>T	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2690932	NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)	SOD1, SOD1-DT (D12Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652587	NM_000454.5(SOD1):c.442G>T (p.Gly148Cys)	SOD1 (G148C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2652586	NM_000454.5(SOD1):c.297T>C (p.Ser99=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 2652585	NM_000454.5(SOD1):c.253T>C (p.Leu85=)	SOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634277	NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)	SOD1 (G94S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 2436219	NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)	SOD1 (G142A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2420773	NM_000454.5(SOD1):c.357+2dup	SOD1	Duplication (splice donor variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2420083	NM_000454.5(SOD1):c.15C>T (p.Ala5=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2201053	NM_000454.5(SOD1):c.240-14T>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2197104	NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)	SOD1 (A96T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2163919	NM_000454.5(SOD1):c.96G>A (p.Val32=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2158256	NM_000454.5(SOD1):c.414A>G (p.Thr138=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2150835	NM_000454.5(SOD1):c.288C>T (p.Ala96=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2138382	NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)	SOD1 (C147R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2138381	NM_000454.5(SOD1):c.401A>T (p.Glu134Val)	SOD1 (E134V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2138380	NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)	SOD1 (E134G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2138379	NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)	SOD1 (L127S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2138378	NM_000454.5(SOD1):c.376G>C (p.Asp126His)	SOD1 (D126H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2138377	NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)	SOD1 (G115A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2138376	NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)	SOD1 (C112Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2138375	NM_000454.5(SOD1):c.292G>C (p.Val98Leu)	SOD1 (V98L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2138374	NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)	SOD1 (L39Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2138373	NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)	SOD1, SOD1-DT (L9Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2138372	NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)	SOD1, SOD1-DT (K4E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic
Select item 2119398	NM_000454.5(SOD1):c.387A>G (p.Lys129=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2093561	NM_000454.5(SOD1):c.416G>T (p.Gly139Val)	SOD1 (G139V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2071338	NM_000454.5(SOD1):c.318A>T (p.Ser106=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 2059610	NM_000454.5(SOD1):c.241C>T (p.His81Tyr)	SOD1 (H81Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2054702	NM_000454.5(SOD1):c.351A>C (p.Thr117=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2052318	NM_000454.5(SOD1):c.239+15A>T	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2050740	NM_000454.5(SOD1):c.170-19TTC[2]	SOD1	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2039627	NM_000454.5(SOD1):c.240-15C>G	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2031011	NM_000454.5(SOD1):c.165A>G (p.Thr55=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2026923	NM_000454.5(SOD1):c.60T>C (p.Asn20=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 2018599	NM_000454.5(SOD1):c.342T>G (p.Ile114Met)	SOD1 (I114M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 2004638	NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)	SOD1, SOD1-DT (I19F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2000951	NM_000454.5(SOD1):c.425G>T (p.Gly142Val)	SOD1 (G142V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1966744	NM_000454.5(SOD1):c.240-3T>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1926438	NM_000454.5(SOD1):c.16G>A (p.Val6Met)	SOD1, SOD1-DT (V6M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1915553	NM_000454.5(SOD1):c.170-11C>T	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1903944	NM_000454.5(SOD1):c.39C>T (p.Gly13=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
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 1807416	NM_000454.5(SOD1):c.357+3A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1802147	NM_000454.5(SOD1):c.272A>T (p.Asp91Val)	SCAF4, SOD1 (D91V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 1774174	NM_000454.5(SOD1):c.150G>A (p.Glu50=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 1764704	NM_000454.5(SOD1):c.87A>G (p.Pro29=)	SOD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1747939	NM_000454.5(SOD1):c.54C>A (p.Ile18=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1711546	GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	CFAP298, EPCIP +17 more	Copy number gain	not provided	GUncertain significance
Select item 1711542	NM_000454.5(SOD1):c.445G>A (p.Val149Ile)	SOD1 (V149I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 1708986	NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)	SOD1 (D126Y)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1698619	NM_000454.5(SOD1):c.357+2T>G	SOD1	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1693766	NM_000454.5(SOD1):c.362A>T (p.His121Leu)	SOD1 (H121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685450	NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)	SOD1 (I150N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1678083	NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)	SOD1 (R116C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678021	NM_000454.5(SOD1):c.179G>T (p.Ser60Ile)	SOD1 (S60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1643211	NM_000454.5(SOD1):c.27G>A (p.Leu9=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 1630659	NM_000454.5(SOD1):c.72+13A>G	SOD1, SOD1-DT	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1618512	NM_000454.5(SOD1):c.240-16G>A	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1614998	NM_000454.5(SOD1):c.239+17C>G	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1588210	NM_000454.5(SOD1):c.240-6T>A	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1587194	NM_000454.5(SOD1):c.170-20T>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +1 more	GBenign
Select item 1566123	NM_000454.5(SOD1):c.159T>C (p.Asp53=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1562144	NM_000454.5(SOD1):c.358-17_358-15del	SOD1	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic

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