"OMIM"[submitter] AND "C2orf69"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177455	NM_153689.6(C2orf69):c.280del (p.Glu94fs)	C2orf69 (E94fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 870947	NM_153689.6(C2orf69):c.298del (p.Gln100fs)	C2orf69 (Q100fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53 +1 more	GPathogenic
Select item 1177457	NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis)	C2orf69	Deletion (inframe_indel)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177456	NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)	C2orf69 (N196fs)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177454	NM_153689.6(C2orf69):c.843_847del (p.Lys282fs)	C2orf69 (K282fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177458	NM_153689.6(C2orf69):c.909_925del (p.Ser304fs)	C2orf69 (S304fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GPathogenic
Select item 1177459	NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter)	C2orf69 (W310*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 53	GPathogenic

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