"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SCO2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139088	NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	TYMP, SCO2 +1 more (A259V)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GBenign/Likely benign
Select item 1163688	NM_005138.3(SCO2):c.764G>T (p.Arg255Leu)	NCAPH2, SCO2 (R255L)	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 139087	NM_005138.3(SCO2):c.763C>A (p.Arg255=)	SCO2, NCAPH2	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1584332	NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)	NCAPH2, SCO2 (S251L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 139086	NM_005138.3(SCO2):c.633A>C (p.Ala211=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +6 more	GBenign
Select item 1353618	NM_005138.3(SCO2):c.616C>T (p.Arg206Cys)	NCAPH2, SCO2 (R206C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 139085	NM_005138.3(SCO2):c.582C>T (p.Ser194=)	TYMP, NCAPH2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign/Likely benign
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 215133	NM_005138.3(SCO2):c.517G>A (p.Asp173Asn)	NCAPH2, SCO2 (D173N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2095570	NM_005138.3(SCO2):c.417C>G (p.Asp139Glu)	NCAPH2, SCO2 (D139E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3380732	NM_005138.3(SCO2):c.338C>T (p.Ala113Val)	NCAPH2, SCO2 (A113V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139084	NM_005138.3(SCO2):c.327C>T (p.His109=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign/Likely benign
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 2086286	NM_005138.3(SCO2):c.179G>A (p.Arg60Gln)	NCAPH2, SCO2 (R60Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 139082	NM_005138.3(SCO2):c.59G>C (p.Arg20Pro)	SCO2, TYMP +1 more (R20P)	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +6 more	GBenign
Select item 342136	NM_001953.5(TYMP):c.1443G>A (p.Gln481=)	SCO2, TYMP	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign
Select item 1957273	NM_001953.5(TYMP):c.1399T>C (p.Phe467Leu)	LOC130067862, SCO2 +1 more (F472L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign/Likely benign
Select item 1163689	NM_001953.5(TYMP):c.1301-2_1305del	LOC130067862, SCO2 +1 more	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
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 1163690	NM_001953.5(TYMP):c.1253G>C (p.Gly418Ala)	LOC130067862, SCO2 +1 more (G418A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 559211	NM_001953.5(TYMP):c.1180G>T (p.Ala394Ser)	LOC130067862, SCO2 +1 more (A399S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137874	NM_001953.5(TYMP):c.1074A>G (p.Arg358=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 3380733	NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser)	SCO2, TYMP +1 more (G355S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130694	NM_001953.5(TYMP):c.972C>T (p.Ala324=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 137873	NM_001953.5(TYMP):c.831G>A (p.Leu277=)	SCO2, TYMP	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27