SOD1 — 318 ClinVar variants
All ClinVar germline SOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
48 Pathogenic · 33 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 20 Conflicting · 16 Benign · 7 Benign/Likely benign · 54 Likely benign · 85 Uncertain significance
Full SOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 16
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SOD1 p.Ala96Thr
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asn66Ser
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Glu101Gly
Pathogenic
Multiple submitters
motor neuron disorder
-
SOD1 p.Glu101Lys
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis
-
SOD1 p.Glu41Gly
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile114Thr
Pathogenic/Likely pathogenic
Multiple submitters
spastic tetraplegia and axial hypotonia, progressive
-
SOD1 p.Lys4Glu
Pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ser106Leu
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Val149Ile
Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp91Val
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp97Val
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Glu134Gly
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly94Ser
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile114Met
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile150Val
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Glu22Lys
Pathogenic
No assertion criteria
amyotrophic lateral sclerosis type 1
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SOD1 p.Ala90Thr
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Arg116Cys
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asn20Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp126His
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp91Ala
Conflicting
Single submitter
Adult onset neurodegenerative disorder
-
SOD1 p.Asp97Asn
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gln23His
Conflicting
Single submitter
SOD1-related disorder
-
SOD1 p.Gly142Ala
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly73Cys
Conflicting
Single submitter
SOD1-related disorder
-
SOD1 p.His121Leu
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Leu118Val
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Phe65Leu
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Thr138Ala
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Val32Ala
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
Predictors lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SOD1 p.Ala153Thr
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Arg70Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SOD1 p.Gly109Arg
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly130Arg
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly130Ser
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile36Phe
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
- SOD1 p.Val119Leu Uncertain significance Multiple submitters
-
SOD1 p.Val48Ile
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
- SOD1 p.Asp125Ala Uncertain significance Single submitter
-
SOD1 p.Asp126Tyr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp84Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp97Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Cys7Tyr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
- SOD1 p.Gly11Cys Uncertain significance Single submitter
-
SOD1 p.Gly128Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly139Glu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly139Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly13Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly74Arg
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly86Asp
Uncertain significance
Single submitter
spastic tetraplegia and axial hypotonia, progressive
-
SOD1 p.His111Tyr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.His121Gln
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.His72Gln
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile152Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile19Phe
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile19Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ile36Thr
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Pro14Ser
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Pro67Leu
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ser103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOD1 p.Ser35Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOD1 p.Ser60Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
- SOD1 p.Ser60Ile Uncertain significance Single submitter
-
SOD1 p.Thr136Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Thr55Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
- SOD1 p.Trp33Arg Uncertain significance Single submitter
-
SOD1 p.Val6Ala
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Val82Asp
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ala141Pro
Uncertain significance
No assertion criteria
SOD1-related disorder
-
SOD1 p.Thr3Met
Uncertain significance
No assertion criteria
SOD1-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
-
SOD1 p.Ala141Gly
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp110Tyr
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Gly17Ala
Pathogenic/Likely pathogenic
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Leu85Phe
Pathogenic/Likely pathogenic
Multiple submitters
spastic tetraplegia and axial hypotonia, progressive
-
SOD1 p.Leu9Val
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis type 1
-
SOD1 p.Phe21Leu
Pathogenic/Likely pathogenic
Multiple submitters
spastic tetraplegia and axial hypotonia, progressive
-
SOD1 p.Ala146Thr
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ala96Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Arg116His
Conflicting
Single submitter
spastic tetraplegia and axial hypotonia, progressive
-
SOD1 p.Asn20Ile
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp12Tyr
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Asp93Val
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Cys112Tyr
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Cys7Ser
Pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Glu134Ala
Conflicting
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Glu50Lys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Lys31Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Ser103Cys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
- SOD1 p.Thr55Arg Uncertain significance Single submitter
-
SOD1 p.Val15Ala
Likely pathogenic
Single submitter
amyotrophic lateral sclerosis type 1
-
SOD1 p.Val95Ala
Uncertain significance
Single submitter
amyotrophic lateral sclerosis type 1
- SOD1 p.Val95Met Uncertain significance Single submitter
-
SOD1 p.Gly11Ala
Pathogenic
No assertion criteria
SOD1-related disorder
All SOD1 variants
Pathogenic 48
- p.Ala5Ser Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala5Thr Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala5Val Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asn140Lys Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asn87Ser Multiple submitters amyotrophic lateral sclerosis type 1
- p.Glu101Gly Multiple submitters motor neuron disorder ⚠
- p.Gly38Arg Multiple submitters motor neuron disorder
- p.Gly42Asp Multiple submitters amyotrophic lateral sclerosis type 1
- p.Gly42Ser Multiple submitters spastic tetraplegia and axial hypotonia, progressive
- p.Gly86Arg Multiple submitters amyotrophic lateral sclerosis type 1
- p.Gly94Arg Multiple submitters motor neuron disorder
- p.Gly94Asp Multiple submitters amyotrophic lateral sclerosis type 1
- p.His44Arg Multiple submitters amyotrophic lateral sclerosis type 10
- p.His47Arg Multiple submitters amyotrophic lateral sclerosis
- p.Leu107Val Multiple submitters SOD1-related disorder
- p.Leu145Phe Multiple submitters amyotrophic lateral sclerosis type 1
- p.Leu145Ser Multiple submitters amyotrophic lateral sclerosis type 1
- p.Lys4Glu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Ala146Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp102Asn Single submitter amyotrophic lateral sclerosis type 1
- p.Asp102His Single submitter amyotrophic lateral sclerosis type 1
- p.Asp91Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Cys112Tyr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Cys7Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Glu134Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly115Ala Single submitter amyotrophic lateral sclerosis type 1
- p.Gly17Ser Single submitter amyotrophic lateral sclerosis type 1
- p.Gly73Asp Single submitter spastic tetraplegia and axial hypotonia, progressive
- p.Gly94Ala Single submitter amyotrophic lateral sclerosis type 1
- p.Gly94Cys Single submitter amyotrophic lateral sclerosis type 1
- p.Gly94Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.His121Arg Single submitter amyotrophic lateral sclerosis type 1
- p.Ile113Thr Single submitter amyotrophic lateral sclerosis type 1
- p.Leu107Phe Single submitter amyotrophic lateral sclerosis type 1
- p.Leu127Ser Single submitter amyotrophic lateral sclerosis type 1
- p.Lys129fs Single submitter amyotrophic lateral sclerosis type 1
- p.Phe21Cys Single submitter amyotrophic lateral sclerosis type 1
- p.Val149Ala Single submitter SOD1-related disorder
- c.358-11A>G No assertion criteria amyotrophic lateral sclerosis type 1
- c.358-304= No assertion criteria amyotrophic lateral sclerosis type 1
- p.Cys7Phe No assertion criteria amyotrophic lateral sclerosis type 1
- p.Glu22Lys No assertion criteria amyotrophic lateral sclerosis type 1 ⚠
- p.Gly11Ala No assertion criteria SOD1-related disorder ⚠
- p.Ile152Thr No assertion criteria amyotrophic lateral sclerosis type 1
- p.Leu127Ter No assertion criteria amyotrophic lateral sclerosis type 1
- p.Leu85Val No assertion criteria amyotrophic lateral sclerosis type 1
- p.Phe46Cys No assertion criteria amyotrophic lateral sclerosis type 1
- p.Ser135Asn No assertion criteria amyotrophic lateral sclerosis type 1
Pathogenic/Likely pathogenic 33
- c.358-10T>G Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala90Val Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala96Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Arg116Gly Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asn66Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Asp125Gly Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asp125Val Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asp77Tyr Multiple submitters amyotrophic lateral sclerosis type 1
- p.Asp77Val Multiple submitters amyotrophic lateral sclerosis type 1
- p.Gln23Leu Multiple submitters amyotrophic lateral sclerosis type 1
- p.Glu101Lys Multiple submitters amyotrophic lateral sclerosis ⚠
- p.Glu134del Multiple submitters amyotrophic lateral sclerosis type 1
- p.Glu41Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly148Asp Multiple submitters SOD1-related disorder
- p.Gly17Ala Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly86Ser Multiple submitters spastic tetraplegia and axial hypotonia, progressive
- p.His49Arg Multiple submitters amyotrophic lateral sclerosis type 1
- p.His81Arg Multiple submitters SOD1-related disorder
- p.Ile105Phe Multiple submitters SOD1-related disorder
- p.Ile114Thr Multiple submitters spastic tetraplegia and axial hypotonia, progressive ⚠
- p.Ile150Thr Multiple submitters amyotrophic lateral sclerosis type 1
- p.Leu39Val Multiple submitters amyotrophic lateral sclerosis type 1
- p.Leu85Phe Multiple submitters spastic tetraplegia and axial hypotonia, progressive ⚠
- p.Phe21Leu Multiple submitters spastic tetraplegia and axial hypotonia, progressive ⚠
- p.Ser106Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Thr138Ile Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val120Leu Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val149Gly Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val15Leu Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val15Met Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val48Ala Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val88Ala Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val88Met Multiple submitters amyotrophic lateral sclerosis type 1
Likely pathogenic 55
- p.Gly13Arg Multiple submitters amyotrophic lateral sclerosis type 1
- p.Gly148Ala Multiple submitters amyotrophic lateral sclerosis type 1
- p.Gly73Ser Multiple submitters amyotrophic lateral sclerosis type 1
- p.Val149Ile Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- c.357_357+2del Single submitter spastic tetraplegia and axial hypotonia, progressive
- c.72+2C>T Single submitter amyotrophic lateral sclerosis type 1
- c.73-1G>A Single submitter amyotrophic lateral sclerosis type 1
- p.Ala146Asp Single submitter motor neuron disorder
- p.Ala146Val Single submitter amyotrophic lateral sclerosis type 1
- p.Ala90Pro Single submitter SOD1-related disorder
- p.Arg116Ser Single submitter amyotrophic lateral sclerosis type 1
- p.Asn132Lys Single submitter amyotrophic lateral sclerosis type 1
- p.Asp126Ala Single submitter amyotrophic lateral sclerosis type 1
- p.Asp126Asn Single submitter amyotrophic lateral sclerosis type 1
- p.Asp84Gly Single submitter SOD1-related disorder
- p.Asp97Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Cys112fs Single submitter spastic tetraplegia and axial hypotonia, progressive
- p.Cys147Arg Single submitter amyotrophic lateral sclerosis type 1
- p.Cys147fs Single submitter amyotrophic lateral sclerosis type 1
- p.Cys7Gly Single submitter amyotrophic lateral sclerosis type 1
- p.Gln23Arg Single submitter amyotrophic lateral sclerosis type 1
- p.Gln23Pro Single submitter amyotrophic lateral sclerosis type 1
- p.Glu122Lys Single submitter amyotrophic lateral sclerosis type 1
- p.Glu134Lys Single submitter amyotrophic lateral sclerosis type 1
- p.Glu134Val Single submitter amyotrophic lateral sclerosis type 1
- p.Gly115Ser Single submitter
- p.Gly139Ter Single submitter amyotrophic lateral sclerosis type 1
- p.Gly142Ter Single submitter amyotrophic lateral sclerosis type 1
- p.Gly142Val Single submitter amyotrophic lateral sclerosis type 1
- p.Gly148Cys Single submitter
- p.Gly17Cys Single submitter amyotrophic lateral sclerosis type 1
- p.Gly73Arg Single submitter
- p.Gly94_Val95insGly Single submitter amyotrophic lateral sclerosis type 1
- p.His72Tyr Single submitter amyotrophic lateral sclerosis type 1
- p.His81Tyr Single submitter amyotrophic lateral sclerosis type 1
- p.Ile113Met Single submitter amyotrophic lateral sclerosis type 1
- p.Ile113Ser Single submitter amyotrophic lateral sclerosis type 1
- p.Ile114Met Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile150Asn Single submitter amyotrophic lateral sclerosis type 1
- p.Ile150Met Single submitter amyotrophic lateral sclerosis
- p.Ile150Ser Single submitter amyotrophic lateral sclerosis type 1
- p.Ile150Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile152Asn Single submitter amyotrophic lateral sclerosis type 1
- p.Leu39Gln Single submitter amyotrophic lateral sclerosis type 1
- p.Leu68Pro Single submitter amyotrophic lateral sclerosis type 1
- p.Leu9Gln Single submitter amyotrophic lateral sclerosis type 1
- p.Phe65Cys Single submitter amyotrophic lateral sclerosis type 1
- p.Pro67Arg Single submitter amyotrophic lateral sclerosis type 1
- p.Ser69Pro Single submitter amyotrophic lateral sclerosis type 1
- p.Val120Phe Single submitter amyotrophic lateral sclerosis type 1
- p.Val15Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Val15Gly Single submitter amyotrophic lateral sclerosis type 1
- p.Val6Met Single submitter amyotrophic lateral sclerosis type 1
- p.Leu68fs No assertion criteria SOD1-related disorder
- p.Val48Phe No assertion criteria SOD1-related disorder
Conflicting classifications of pathogenicity 20
- c.239+6A>C Single submitter amyotrophic lateral sclerosis type 1
- p.Ala90Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Arg116Cys Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Arg116His Single submitter spastic tetraplegia and axial hypotonia, progressive ⚠
- p.Asn140= Single submitter Inborn genetic diseases
- p.Asn20Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp126His Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp12Tyr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp91Ala Single submitter Adult onset neurodegenerative disorder ⚠
- p.Asp97Asn Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gln23His Single submitter SOD1-related disorder ⚠
- p.Glu134Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Glu22= Single submitter Inborn genetic diseases
- p.Gly142Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly73Cys Single submitter SOD1-related disorder ⚠
- p.His121Leu Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Leu118Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Phe65Leu Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Thr138Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Val32Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
Benign 16
- c.170-20T>C Multiple submitters amyotrophic lateral sclerosis type 1
- c.239+243A>G Multiple submitters
- c.239+34A>C Multiple submitters
- c.240-251A>G Multiple submitters
- c.73-108T>A Multiple submitters amyotrophic lateral sclerosis type 1
- c.-48T>A Multiple submitters amyotrophic lateral sclerosis type 1
- c.169+192T>G Single submitter
- c.170-286_170-285del Single submitter
- c.357+316T>G Single submitter
- c.357+474C>T Single submitter
- c.358-413C>T Single submitter
- c.358-456del Single submitter
- c.73-140G>C Single submitter
- c.-83T>C Single submitter amyotrophic lateral sclerosis type 1
- c.*317T>C Single submitter amyotrophic lateral sclerosis type 1
- c.*339C>T Single submitter amyotrophic lateral sclerosis type 1
Benign/Likely benign 7
- c.169+52_169+58del Multiple submitters SOD1-related disorder
- c.357+9T>C Multiple submitters amyotrophic lateral sclerosis type 1
- c.72+19G>A Multiple submitters amyotrophic lateral sclerosis type 1
- c.73-8T>C Multiple submitters amyotrophic lateral sclerosis type 1
- c.*2C>T Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala141= Multiple submitters Inborn genetic diseases
- p.Pro29= Multiple submitters Inborn genetic diseases
Likely benign 54
- c.73-4A>G Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala5= Multiple submitters Inborn genetic diseases
- p.Glu50= Multiple submitters Inborn genetic diseases
- p.Gly13= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Leu85= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Leu9= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Phe65= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ser106= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ser60= Multiple submitters Inborn genetic diseases
- p.Ser99= Multiple submitters amyotrophic lateral sclerosis type 1
- p.Thr138= Multiple submitters amyotrophic lateral sclerosis type 1
- c.169+17G>A Single submitter amyotrophic lateral sclerosis type 1
- c.170-11C>T Single submitter amyotrophic lateral sclerosis type 1
- c.170-17C>T Single submitter amyotrophic lateral sclerosis type 1
- c.170-19TTC[2] Single submitter amyotrophic lateral sclerosis type 1
- c.239+11G>A Single submitter amyotrophic lateral sclerosis type 1
- c.239+15A>T Single submitter amyotrophic lateral sclerosis type 1
- c.239+17C>G Single submitter amyotrophic lateral sclerosis type 1
- c.239+208G>A Single submitter
- c.239+358dup Single submitter
- c.240-14T>C Single submitter amyotrophic lateral sclerosis type 1
- c.240-15C>G Single submitter amyotrophic lateral sclerosis type 1
- c.240-16G>A Single submitter amyotrophic lateral sclerosis type 1
- c.240-6T>A Single submitter amyotrophic lateral sclerosis type 1
- c.240-9_240-6del Single submitter amyotrophic lateral sclerosis type 1
- c.357+20T>C Single submitter amyotrophic lateral sclerosis type 1
- c.357+229C>T Single submitter
- c.357+469C>A Single submitter
- c.358-130G>C Single submitter
- c.358-17_358-15del Single submitter amyotrophic lateral sclerosis type 1
- c.72+13A>G Single submitter amyotrophic lateral sclerosis type 1
- c.72+14C>T Single submitter amyotrophic lateral sclerosis type 1
- c.73-15G>C Single submitter amyotrophic lateral sclerosis type 1
- c.-26A>G Single submitter amyotrophic lateral sclerosis type 1
- p.Ala96= Single submitter amyotrophic lateral sclerosis type 1
- p.Asn20= Single submitter amyotrophic lateral sclerosis type 1
- p.Asp53= Single submitter amyotrophic lateral sclerosis type 1
- p.Gly148= Single submitter amyotrophic lateral sclerosis type 1
- p.His72= Single submitter amyotrophic lateral sclerosis type 1
- p.His81= Single submitter amyotrophic lateral sclerosis type 1
- p.Ile100= Single submitter amyotrophic lateral sclerosis type 1
- p.Ile150= Single submitter amyotrophic lateral sclerosis type 1
- p.Ile18= Single submitter Inborn genetic diseases
- p.Leu107= Single submitter amyotrophic lateral sclerosis type 1
- p.Lys129= Single submitter amyotrophic lateral sclerosis type 1
- p.Thr117= Single submitter amyotrophic lateral sclerosis type 1
- p.Thr136= Single submitter amyotrophic lateral sclerosis type 1
- p.Thr55= Single submitter amyotrophic lateral sclerosis type 1
- p.Val104= Single submitter
- p.Val32= Single submitter amyotrophic lateral sclerosis type 1
- c.357+36_357+38del No assertion criteria SOD1-related disorder
- c.358-295A>G No assertion criteria SOD1-related disorder
- c.358-299A>G No assertion criteria SOD1-related disorder
- c.-3G>A No assertion criteria SOD1-related disorder
Uncertain significance 85
- c.-87G>A Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ala141Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Ala153Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Arg70Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp110Tyr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly109Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly130Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly130Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Gly28_Pro29del Multiple submitters amyotrophic lateral sclerosis type 1
- p.Ile36Phe Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Leu9Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- p.Val119Leu Multiple submitters ⚠
- p.Val48Ile Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
- c.240-3T>C Single submitter amyotrophic lateral sclerosis type 1
- c.240-4_251del Single submitter amyotrophic lateral sclerosis type 1
- c.357+2dup Single submitter amyotrophic lateral sclerosis type 1
- c.357+2T>G Single submitter
- c.357+3A>G Single submitter
- c.358-306del Single submitter
- c.72+20C>T Single submitter amyotrophic lateral sclerosis type 1
- c.72+6G>A Single submitter amyotrophic lateral sclerosis type 1
- c.72+9T>C Single submitter
- c.-55C>G Single submitter amyotrophic lateral sclerosis type 1
- c.-55C>T Single submitter amyotrophic lateral sclerosis type 1
- c.-56T>A Single submitter amyotrophic lateral sclerosis type 1
- c.-84C>G Single submitter amyotrophic lateral sclerosis type 1
- c.-87G>C Single submitter amyotrophic lateral sclerosis type 1
- c.-91C>G Single submitter amyotrophic lateral sclerosis type 1
- c.*153T>G Single submitter amyotrophic lateral sclerosis type 1
- c.*198G>A Single submitter amyotrophic lateral sclerosis type 1
- c.*273_*276del Single submitter amyotrophic lateral sclerosis type 1
- p.Ala96Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asn20Ile Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp125Ala Single submitter ⚠
- p.Asp126Tyr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp84Asn Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp93Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Asp97Glu Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Cys7Tyr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Glu25= Single submitter amyotrophic lateral sclerosis type 1
- p.Glu50fs Single submitter amyotrophic lateral sclerosis type 1
- p.Glu50Lys Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly109del Single submitter amyotrophic lateral sclerosis type 1
- p.Gly11Cys Single submitter ⚠
- p.Gly128Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly139Glu Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly139Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly13Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly148del Single submitter amyotrophic lateral sclerosis type 1
- p.Gly28_Pro29insHisGly Single submitter
- p.Gly74Arg Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Gly86Asp Single submitter spastic tetraplegia and axial hypotonia, progressive ⚠
- p.His111Tyr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.His121Gln Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.His72Gln Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile152Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile19del Single submitter amyotrophic lateral sclerosis type 1
- p.Ile19Phe Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile19Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ile36Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Leu107_Ser108del Single submitter amyotrophic lateral sclerosis type 1
- p.Lys24= Single submitter
- p.Lys31Asn Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Pro14Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Pro67Leu Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ser103Cys Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ser103Thr Single submitter Inborn genetic diseases ⚠
- p.Ser35Thr Single submitter Inborn genetic diseases ⚠
- p.Ser60Asn Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Ser60Ile Single submitter ⚠
- p.Ter155Ser Single submitter
- p.Thr136Ile Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Thr55Arg Single submitter ⚠
- p.Thr55Ile Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Trp33Arg Single submitter ⚠
- p.Trp33Ter Single submitter amyotrophic lateral sclerosis type 1
- p.Val48_His49dup Single submitter amyotrophic lateral sclerosis type 1
- p.Val6Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Val6Lys Single submitter amyotrophic lateral sclerosis type 1
- p.Val82Asp Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Val95Ala Single submitter amyotrophic lateral sclerosis type 1 ⚠
- p.Val95Met Single submitter ⚠
- p.Val98Leu Single submitter amyotrophic lateral sclerosis type 1
- p.Ala141Pro No assertion criteria SOD1-related disorder ⚠
- p.Thr3Met No assertion criteria SOD1-related disorder ⚠