"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712423	NM_001358921.2(COQ2):c.951+8C>G	COQ2	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712354	NM_001358921.2(COQ2):c.739T>C (p.Tyr247His)	COQ2 (Y247H +1 more)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 218722	NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)	COQ2, LOC112997540 (D115A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136980	NM_001358921.2(COQ2):c.189G>T (p.Val63=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 136978	NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)	LOC112997540, COQ2 (R22*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1 +4 more	GBenign/Likely benign
Select item 235473	NM_015697.9(COQ2):c.48dup (p.Ala17fs)	COQ2, LOC112997540 (A17fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar