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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ2, LOC112997540
(V66L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
COQ2, LOC112997540
(R22*)
Single nucleotide variant
(nonsense)
Coenzyme Q10 deficiency, primary, 1
+4 more
GBenign/Likely benign