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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8A
(R213W)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic/Likely pathogenic
COQ8A
(R299W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8A
(A339T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
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