C5399977[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678607	NM_005138.3(SCO2):c.672_682del (p.Ser225fs)	NCAPH2, SCO2 (S225fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2678606	NM_005138.3(SCO2):c.609_610del (p.His203fs)	NCAPH2, SCO2 (H203fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 1913825	NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)	NCAPH2, SCO2 (G193S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240429	NM_005138.3(SCO2):c.563del (p.Leu188fs)	NCAPH2, SCO2 (L188fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2130639	NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)	NCAPH2, SCO2 (Q182*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 215130	NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)	NCAPH2, SCO2 (R179C)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +3 more	GUncertain significance
Select item 2678605	NM_005138.3(SCO2):c.514_515dup (p.Asp172fs)	NCAPH2, SCO2 (D172fs)	Duplication (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 1029942	NM_005138.3(SCO2):c.512G>A (p.Arg171Gln)	NCAPH2, SCO2 (R171Q)	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 1911265	NM_005138.3(SCO2):c.481C>T (p.Gln161Ter)	NCAPH2, SCO2 (Q161*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5681	NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	NCAPH2, SCO2 (E140K)	Single nucleotide variant (3 prime UTR variant +1 more)	Tip-toe gait +4 more	GPathogenic
Select item 2737058	NM_005138.3(SCO2):c.401_402del (p.Pro134fs)	NCAPH2, SCO2 (P134fs)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2108900	NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)	NCAPH2, SCO2 (G129D)	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 2722786	NM_005138.3(SCO2):c.364C>T (p.Gln122Ter)	NCAPH2, SCO2 (Q122*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1517419	NM_005138.3(SCO2):c.327_328del (p.His109fs)	NCAPH2, SCO2 (H109fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 1219241	NM_005138.3(SCO2):c.281T>C (p.Leu94Pro)	NCAPH2, SCO2 (L94P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5682	NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)	NCAPH2, SCO2 (R90*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1034155	NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)	NCAPH2, SCO2 (Q86*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GPathogenic
Select item 2678608	NM_005138.3(SCO2):c.233_236delinsA (p.Leu78_Arg79delinsGln)	NCAPH2, SCO2	Indel (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2413129	NM_005138.3(SCO2):c.227_230del (p.Leu76fs)	NCAPH2, SCO2 (L76fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +1 more	GPathogenic/Likely pathogenic
Select item 2678604	NM_005138.3(SCO2):c.225G>A (p.Trp75Ter)	NCAPH2, SCO2 (W75*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2430622	NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)	NCAPH2, SCO2 (A74D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2442147	NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)	NCAPH2, SCO2 (G68R)	Single nucleotide variant (missense variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GUncertain significance
Select item 5678	NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)	NCAPH2, SCO2 (Q53*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 3240428	NM_005138.3(SCO2):c.135_136del (p.Glu45fs)	NCAPH2, SCO2 (E45fs)	Microsatellite (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 3240427	NM_005138.3(SCO2):c.120_135del (p.Gly42fs)	NCAPH2, SCO2 (G42fs)	Deletion (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	GLikely pathogenic
Select item 2011646	NM_005138.3(SCO2):c.45_46del (p.Gln16fs)	NCAPH2, SCO2 (Q16fs)	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 26