C2orf69[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446879	NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)	C2orf69 (D64fs)	Duplication (frameshift variant)	Combined oxidative phosphorylation deficiency 53	GLikely pathogenic
Select item 2651806	NM_153689.6(C2orf69):c.204C>T (p.Ser68=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651807	NM_153689.6(C2orf69):c.246G>A (p.Glu82=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 809136	NM_153689.6(C2orf69):c.301C>G (p.His101Asp)	C2orf69 (H101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1810519	NM_153689.6(C2orf69):c.320C>G (p.Pro107Arg)	C2orf69 (P107R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651808	NM_153689.6(C2orf69):c.375A>G (p.Gln125=)	C2orf69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042594	NM_153689.6(C2orf69):c.430A>T (p.Asn144Tyr)	C2orf69 (N144Y)	Single nucleotide variant (missense variant)	C2orf69-related disorder	GLikely benign
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
Select item 2307552	NM_153689.6(C2orf69):c.931G>A (p.Val311Ile)	C2orf69 (V311I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1879515	NM_153689.6(C2orf69):c.1010G>A (p.Arg337His)	C2orf69 (R337H)	Single nucleotide variant (missense variant)	not provided	GLikely benign