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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDSS2
(A384D)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(R349Q)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
+2 more
GConflicting classifications of pathogenicity
PDSS2
(M279I)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 3
GUncertain significance
PDSS2
(K234E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDSS2
(V223I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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