U.S. flag

An official website of the United States government

Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 48

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
SOD1-related condition
GLikely benign
SOD1, SOD1-DT
(Q23P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(N20I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(D12Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(L9Q)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(K4E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(I19F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(V6M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
SOD1-related condition
+2 more
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
(V15L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(Q23H)
Single nucleotide variant
(missense variant)
SOD1-related condition
+1 more
GLikely pathogenic
SOD1, SOD1-DT
(V15G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(C7G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(C7S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(G17C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(F21C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(L9V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(V6A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+1 more
GBenign/Likely benign
LOC130066533, SOD1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
SOD1
(D126A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(Q23L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
(V15M)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
(A5S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1-DT, SOD1
(F21L)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1, SOD1-DT
(I19T)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(G17A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GPathogenic/Likely pathogenic
SOD1, SOD1-DT
(N20S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GConflicting classifications of pathogenicity
SOD1
Copy number gain
See cases
GBenign
SOD1, SOD1-DT
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 1
GConflicting classifications of pathogenicity
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GLikely benign
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GBenign
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 1
GUncertain significance
SOD1, SOD1-DT
(G13R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1-DT, SOD1
(G17S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(E22K)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(C7F)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1, SOD1-DT
(A5T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SOD1, SOD1-DT
(A5V)
Single nucleotide variant
(missense variant)
SOD1-related condition
+2 more
GPathogenic
Display optionsSort by RelevanceDownload
Format
Items per page
Sort by
Choose Destination