"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139083	NM_005138.3(SCO2):c.201C>T (p.Phe67=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +3 more	GConflicting classifications of pathogenicity
Select item 618870	NM_005138.3(SCO2):c.193G>A (p.Gly65Ser)	SCO2, NCAPH2 (G65S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130693	NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)	LOC130067862, SCO2 +1 more (S471L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 137878	NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)	LOC130067862, SCO2 +1 more (A465T +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign
Select item 130694	NM_001953.5(TYMP):c.972C>T (p.Ala324=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign

ClinVar