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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOD1, SOD1-DT
(A5V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SOD1, SOD1-DT
(Q23H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOD1
(G38R)
Single nucleotide variant
(missense variant)
Motor neuron disease
+2 more
GPathogenic
SOD1
(D91A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOD1
(L107V)
Single nucleotide variant
(missense variant)
SOD1-related disorder
+2 more
GPathogenic
SOD1
(I114T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SOD1
(H121L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOD1
(T138I)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
+1 more
GConflicting classifications of pathogenicity
SOD1
(I150T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SOD1
(A153T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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