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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS2
(S382L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDSS2
(Q322*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 3
GPathogenic