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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETX
(S1685C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
GUncertain significance
SETX
(L1111W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
(K220Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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