C3551954[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375340	NM_001358921.2(COQ2):c.1047del (p.Asn351fs)	COQ2 (N401fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1436	NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)	COQ2 (Y297C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1439	NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)	COQ2 (N228S +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1438	NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	COQ2 (R197H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1440	NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)	COQ2 (S146N +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +1 more	GPathogenic
Select item 60536	NM_001358921.2(COQ2):c.232A>G (p.Met78Val)	COQ2, LOC112997540 (M128V)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +3 more	GConflicting classifications of pathogenicity

ClinVar