ClinVar for MedGen (Select 1740444) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978826	NC_000012.12:g.120502295_120511884dup	COQ5	Duplication	Coenzyme q10 deficiency, primary, 9	GPathogenic
Select item 871737	NM_032314.4(COQ5):c.353G>A (p.Gly118Asp)	COQ5 (G118D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity