SOD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290348	NM_000454.5(SOD1):c.73-140G>C	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440292	NM_000454.5(SOD1):c.73-108T>A	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1253747	NM_000454.5(SOD1):c.73-8T>C	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 703977	NM_000454.5(SOD1):c.73-4A>G	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 899184	NM_000454.5(SOD1):c.75A>G (p.Glu25=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 3234683	NM_000454.5(SOD1):c.80_85dup (p.Gly28_Pro29insHisGly)	SOD1	Duplication (inframe_insertion)	not provided	GUncertain significance
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 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 1396752	NM_000454.5(SOD1):c.93G>C (p.Lys31Asn)	SOD1 (K31N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 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 872802	NM_000454.5(SOD1):c.97T>C (p.Trp33Arg)	SOD1 (W33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392404	NM_000454.5(SOD1):c.106A>T (p.Ile36Phe)	SOD1 (I36F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 14752	NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)	SOD1 (G38R)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
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 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 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 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
Select item 14755	NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)	SOD1 (G42D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 14781	NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)	SOD1 (F46C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 1486895	NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup)	SOD1	Duplication (inframe_insertion)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 3349795	NM_000454.5(SOD1):c.142G>T (p.Val48Phe)	SOD1 (V48F)	Single nucleotide variant (missense variant)	SOD1-related disorder	GLikely pathogenic
Select item 1018905	NM_000454.5(SOD1):c.143T>C (p.Val48Ala)	SOD1 (V48A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 807693	NM_000454.5(SOD1):c.146A>G (p.His49Arg)	SOD1 (H49R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 658902	NM_000454.5(SOD1):c.148G>A (p.Glu50Lys)	SOD1 (E50K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 946758	NM_000454.5(SOD1):c.149del (p.Glu50fs)	SOD1 (E50fs)	Deletion (frameshift variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 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 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 1170537	NM_000454.5(SOD1):c.169+52_169+58del	SOD1	Deletion (intron variant)	SOD1-related disorder +2 more	GBenign/Likely benign
Select item 1222120	NM_000454.5(SOD1):c.169+192T>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244127	NM_000454.5(SOD1):c.170-286_170-285del	SOD1	Deletion (intron variant)	not provided	GBenign
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 2050740	NM_000454.5(SOD1):c.170-19TTC[2]	SOD1	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
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 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 1678021	NM_000454.5(SOD1):c.179G>T (p.Ser60Ile)	SOD1 (S60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720157	NM_000454.5(SOD1):c.180T>C (p.Ser60=)	SOD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 703873	NM_000454.5(SOD1):c.195T>C (p.Phe65=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 3345780	NM_000454.5(SOD1):c.201_207del (p.Leu68fs)	SOD1 (L68fs)	Deletion (frameshift variant)	SOD1-related disorder	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 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 1414851	NM_000454.5(SOD1):c.208A>G (p.Arg70Gly)	SOD1 (R70G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 1484236	NM_000454.5(SOD1):c.216C>G (p.His72Gln)	SOD1 (H72Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1156259	NM_000454.5(SOD1):c.216C>T (p.His72=)	SOD1	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 14779	NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)	SOD1 (G73S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 536143	NM_000454.5(SOD1):c.220G>A (p.Gly74Arg)	SOD1 (G74R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 1030809	NM_000454.5(SOD1):c.230A>T (p.Asp77Val)	SOD1 (D77V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	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 2052318	NM_000454.5(SOD1):c.239+15A>T	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 256202	NM_000454.5(SOD1):c.239+34A>C	SOD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1187341	NM_000454.5(SOD1):c.239+208G>A	SOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246681	NM_000454.5(SOD1):c.239+243A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220366	NM_000454.5(SOD1):c.239+358dup	SOD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1253758	NM_000454.5(SOD1):c.240-251A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2039627	NM_000454.5(SOD1):c.240-15C>G	SOD1	Single nucleotide variant (intron 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 2913075	NM_000454.5(SOD1):c.240-9_240-6del	SOD1	Deletion (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 1966744	NM_000454.5(SOD1):c.240-3T>C	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 14782	NM_000454.5(SOD1):c.242A>G (p.His81Arg)	SOD1 (H81R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 2652585	NM_000454.5(SOD1):c.253T>C (p.Leu85=)	SOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14775	NM_000454.5(SOD1):c.253T>G (p.Leu85Val)	SOD1 (L85V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 855744	NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)	SOD1 (L85F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 14758	NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)	SOD1 (G86R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 858432	NM_000454.5(SOD1):c.263T>C (p.Val88Ala)	SOD1 (V88A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 1191297	NM_000454.5(SOD1):c.269C>T (p.Ala90Val)	SOD1 (A90V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely 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 +2 more	GConflicting classifications of pathogenicity
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 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 14784	NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	SOD1 (G94R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 14759	NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)	SOD1 (G94C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 1072003	NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)	SOD1 (G94D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 14760	NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)	SOD1 (G94A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
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 1430718	NM_000454.5(SOD1):c.287C>T (p.Ala96Val)	SOD1 (A96V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 14783	NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)	SOD1 (D97N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 692200	NM_000454.5(SOD1):c.290A>T (p.Asp97Val)	SOD1 (D97V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
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 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 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 14761	NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	SOD1 (E101G)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
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 1066874	NM_000454.5(SOD1):c.304G>C (p.Asp102His)	SOD1 (D102H)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 872803	NM_000454.5(SOD1):c.312G>A (p.Val104=)	SOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14767	NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)	SOD1 (I105F)	Single nucleotide variant (missense variant)	Abnormal central motor function	GLikely pathogenic

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