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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDZD9, UQCRC2
(Y121H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDZD9, UQCRC2
(V419fs)
Duplication
(frameshift variant)
Mitochondrial complex III deficiency nuclear type 5
GUncertain significance