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

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Items: 29

	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 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 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 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 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 342144	NM_001953.5(TYMP):c.859G>A (p.Val287Met)	TYMP (V287M)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
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
Select item 215321	NM_001953.5(TYMP):c.735G>A (p.Gln245=)	TYMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3380734	NM_001953.5(TYMP):c.724T>C (p.Phe242Leu)	TYMP (F242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16663	NM_001953.5(TYMP):c.622G>A (p.Val208Met)	TYMP (V208M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16660	NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)	TYMP (G153S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 215332	NM_001953.5(TYMP):c.437G>A (p.Arg146His)	TYMP (R146H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215330	NM_001953.5(TYMP):c.401C>T (p.Ala134Val)	TYMP (A134V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 559212	NM_001953.5(TYMP):c.357G>C (p.Gly119=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163691	NM_001953.5(TYMP):c.330G>C (p.Gln110His)	TYMP (Q110H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163692	NM_001953.5(TYMP):c.120C>G (p.Ile40Met)	TYMP (I40M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163693	NM_001953.5(TYMP):c.89C>T (p.Ser30Leu)	TYMP (S30L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403281	NM_001953.5(TYMP):c.28G>A (p.Gly10Arg)	TYMP (G10R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 29