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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCTN1
(D1106Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+2 more
GUncertain significance
DCTN1
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 1
+3 more
GConflicting classifications of pathogenicity
DCTN1
(R148W +4 more)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 1
+3 more
GConflicting classifications of pathogenicity
SOD1
(D77V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic/Likely pathogenic
SOD1
(R116H)
Single nucleotide variant
(missense variant)
Spastic tetraplegia and axial hypotonia, progressive
+2 more
GConflicting classifications of pathogenicity
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