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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS2
(R397fs)
Deletion
(frameshift variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(G357V)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(W247*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 3
+1 more
GUncertain significance
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