C4540209[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 441243	NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro)	C1QBP (L275P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
Select item 441245	NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe)	C1QBP (L275F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
Select item 441244	NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp)	C1QBP (G247W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 33	GPathogenic
Select item 441242	NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)	C1QBP (F204L)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 441246	NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)	C1QBP (Y188del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 441241	NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser)	C1QBP (C186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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