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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPH, TROAP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Amyotrophic lateral sclerosis type 1
GLikely pathogenic
SOD1
(N87S)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 1
GPathogenic
SOD1
(D91A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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