C3551954[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031929	NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	COQ2 (A309S +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +2 more	GUncertain significance
Select item 1031928	NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	COQ2 (S297C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031931	NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)	COQ2 (G164E +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
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 1341588	NM_001358921.2(COQ2):c.368G>A (p.Arg123His)	COQ2 (R123H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1698040	NM_001358921.2(COQ2):c.165G>C (p.Gln55His)	COQ2, LOC112997540 (Q105H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1027998	NM_015697.9(COQ2):c.97C>T (p.His33Tyr)	COQ2, LOC112997540 (H33Y)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance

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