NM_000454.5(SOD1):c.14C>T (p.Ala5Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder
β
β
ββ2026β Residue 5
NM_000454.5(SOD1):c.443G>C (p.Gly148Ala)Likely pathogenic
not provided|Amyotrophic lateral sclerosis type 1
β
β
ββ2025β Residue 148
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)Pathogenic
Amyotrophic lateral sclerosis type 1|See cases|SOD1-related disorder
β
β
ββ2025β Residue 120
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)Pathogenic
not provided|Amyotrophic lateral sclerosis type 1|SOD1-related disorder
β
β
ββ2025β Residue 145
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Motor neuron disease|SOD1-related disorder|Spastic tetraplegia and axial hypotonia, progressive
β
β
ββ2025β Residue 114
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder
β
β
ββ2025β Residue 150
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β
β
ββ2025β Residue 87
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)Pathogenic
Amyotrophic lateral sclerosis type 1
β
β
ββ2025β Residue 42
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder|Limb muscle weakness
β
β
ββ2025β Residue 145
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|Motor neuron disease|not provided
β
β
ββ2025β Residue 38
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)Pathogenic
Amyotrophic lateral sclerosis type 1|Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis type 1
β
β
ββ2025β Residue 85
NM_000454.5(SOD1):c.140A>G (p.His47Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis|SOD1-related disorder
β
β
ββ2025β Residue 47
NM_000454.5(SOD1):c.374A>T (p.Asp125Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β
β
ββ2025β Residue 125
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β
β
ββ2025β Residue 134
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)Pathogenic
Amyotrophic lateral sclerosis type 1
β
β
ββ2025β Residue 94
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis
β
β
ββ2025β Residue 101
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β
β
ββ2025β Residue 77
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β
β
ββ2025β Residue 5
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)Pathogenic
Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis type 1
β
β
ββ2025β Residue 106
NM_000454.5(SOD1):c.131A>G (p.His44Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis type 10|SOD1-related disorder
β
β
ββ2025β Residue 44