"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCO2"[gen - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2046423	NM_005138.3(SCO2):c.777G>A (p.Ala259=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	SCO2-related disorder +1 more	GLikely benign
Select item 342123	NM_005138.3(SCO2):c.738G>C (p.Ser246=)	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 3056274	NM_005138.3(SCO2):c.593T>C (p.Val198Ala)	NCAPH2, SCO2 (V198A)	Single nucleotide variant (3 prime UTR variant +1 more)	SCO2-related disorder	GUncertain significance
Select item 902939	NM_005138.3(SCO2):c.541G>A (p.Val181Ile)	NCAPH2, SCO2 (V181I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 1303312	NM_005138.3(SCO2):c.395_406del (p.His132_Ile136delinsLeu)	NCAPH2, SCO2	Deletion (3 prime UTR variant +1 more)	SCO2-related disorder +1 more	GUncertain significance
Select item 2630070	NM_005138.3(SCO2):c.385G>A (p.Gly129Ser)	SCO2, NCAPH2 (G129S)	Single nucleotide variant (3 prime UTR variant +1 more)	SCO2-related disorder	GUncertain significance
Select item 1191154	NM_005138.3(SCO2):c.306C>T (p.Gly102=)	NCAPH2, SCO2	Single nucleotide variant (3 prime UTR variant +1 more)	SCO2-related disorder +1 more	GLikely benign
Select item 3031371	NM_001953.5(TYMP):c.*6C>T	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	TYMP-related disorder	GLikely benign
Select item 553052	NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	SCO2, TYMP (Q481* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified +3 more	GUncertain significance
Select item 1093392	NM_001953.5(TYMP):c.1413G>A (p.Ser471=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 130693	NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)	TYMP, LOC130067862 +1 more (S471L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 137878	NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)	TYMP, LOC130067862 +1 more (A465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 137876	NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GBenign
Select item 1455357	NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs)	TYMP, LOC130067862 +1 more (E377fs)	Deletion (frameshift variant +1 more)	TYMP-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 342141	NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)	LOC130067862, SCO2 +1 more (F343C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 342142	NM_001953.5(TYMP):c.995C>T (p.Ala332Val)	LOC130067862, SCO2 +1 more (A332V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 130694	NM_001953.5(TYMP):c.972C>T (p.Ala324=)	TYMP, LOC130067862 +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
Select item 137873	NM_001953.5(TYMP):c.831G>A (p.Leu277=)	TYMP, SCO2	Single nucleotide variant (synonymous variant)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign