"Revvity Omics, Revvity"[submitter] AND "SCO2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2413131	NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)	NCAPH2, SCO2 (R255W)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GUncertain significance
Select item 2435781	NM_005138.3(SCO2):c.686A>G (p.Tyr229Cys)	NCAPH2, SCO2 (Y229C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2435780	NM_005138.3(SCO2):c.679G>A (p.Ala227Thr)	NCAPH2, SCO2 (A227T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2435782	NM_005138.3(SCO2):c.490T>G (p.Phe164Val)	NCAPH2, SCO2 (F164V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1054726	NM_005138.3(SCO2):c.303G>C (p.Gln101His)	NCAPH2, SCO2 (Q101H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GUncertain significance
Select item 1056906	NM_005138.3(SCO2):c.284G>A (p.Arg95His)	NCAPH2, SCO2 (R95H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1325042	NM_005138.3(SCO2):c.224G>A (p.Trp75Ter)	NCAPH2, SCO2 (W75*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 222816	NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)	NCAPH2, SCO2 (R6fs)	Insertion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +2 more	GPathogenic/Likely pathogenic