"Natera, Inc."[submitter] AND "TYMP"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 342136	NM_001953.5(TYMP):c.1443G>A (p.Gln481=)	SCO2, TYMP	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 215345	NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg)	SCO2, TYMP +1 more (P480R +1 more)	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 specified +3 more	GBenign
Select item 990765	NM_001953.5(TYMP):c.1404C>T (p.Ala468=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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)	not specified +4 more	GBenign/Likely benign
Select item 215341	NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)	LOC130067862, SCO2 +1 more (H441Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 763335	NM_001953.5(TYMP):c.1301-9G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 223069	NM_001953.5(TYMP):c.1300+1G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	Mitochondrial DNA depletion syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 713848	NM_001953.5(TYMP):c.1295G>A (p.Arg432His)	LOC130067862, SCO2 +1 more (R432H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137877	NM_001953.5(TYMP):c.1290G>A (p.Arg430=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137876	NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1 +4 more	GBenign
Select item 990766	NM_001953.5(TYMP):c.1273G>A (p.Val425Ile)	LOC130067862, SCO2 +1 more (V425I +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial neurogastrointestinal encephalomyopathy	GUncertain significance
Select item 669173	NM_001953.5(TYMP):c.1266G>A (p.Glu422=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 764487	NM_001953.5(TYMP):c.1242G>A (p.Pro414=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 990767	NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly)	LOC130067862, SCO2 +1 more (S409G +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial neurogastrointestinal encephalomyopathy	GUncertain significance
Select item 215340	NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg)	LOC130067862, SCO2 +1 more (G407R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 990768	NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp)	LOC130067862, SCO2 +1 more (A406D +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial neurogastrointestinal encephalomyopathy	GUncertain significance
Select item 990769	NM_001953.5(TYMP):c.1209G>A (p.Glu403=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 744024	NM_001953.5(TYMP):c.1189C>T (p.Leu397=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1165426	NM_001953.5(TYMP):c.1185G>A (p.Leu395=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 342137	NM_001953.5(TYMP):c.1176C>T (p.Val392=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 223064	NM_001953.5(TYMP):c.1160-1G>A	LOC130067862, SCO2 +1 more (G392S)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GPathogenic
Select item 215344	NM_001953.5(TYMP):c.1159+5G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 215338	NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg)	LOC130067862, SCO2 +1 more (G363R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 658290	NM_001953.5(TYMP):c.1040dup (p.Ala348fs)	SCO2, TYMP +1 more (A348fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 426794	NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln)	LOC130067862, SCO2 +1 more (E344Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	SCO2, TYMP +1 more	Microsatellite (intron variant)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign
Select item 749726	NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)	LOC130067862, TYMP (D304N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 16653	NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	TYMP (E289A)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic
Select item 342145	NM_001953.5(TYMP):c.858G>A (p.Glu286=)	TYMP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 739229	NM_001953.5(TYMP):c.762G>A (p.Thr254=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215321	NM_001953.5(TYMP):c.735G>A (p.Gln245=)	TYMP	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 215336	NM_001953.5(TYMP):c.683C>G (p.Ser228Cys)	TYMP (S228C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16656	NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)	TYMP (K222R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 990770	NM_001953.5(TYMP):c.647-6C>G	TYMP	Single nucleotide variant (intron variant)	Mitochondrial neurogastrointestinal encephalomyopathy	GUncertain significance
Select item 215331	NM_001953.5(TYMP):c.647-9C>G	TYMP	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1009703	NM_001953.5(TYMP):c.594A>G (p.Leu198=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 215343	NM_001953.5(TYMP):c.586G>A (p.Gly196Arg)	TYMP (G196R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747608	NM_001953.5(TYMP):c.516+9C>T	TYMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215334	NM_001953.5(TYMP):c.516+2T>A	TYMP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 798417	NM_001953.5(TYMP):c.495T>C (p.Asn165=)	TYMP	Single nucleotide variant (synonymous variant)	TYMP-related disorder +1 more	GLikely benign
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 16655	NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	TYMP (G145R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 990771	NM_001953.5(TYMP):c.418-7C>T	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726582	NM_001953.5(TYMP):c.402G>C (p.Ala134=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 215328	NM_001953.5(TYMP):c.281C>T (p.Ala94Val)	LOC130067864, TYMP (A94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16662	NM_001953.5(TYMP):c.215-1G>C	LOC130067864, TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 137870	NM_001953.5(TYMP):c.204C>T (p.Gly68=)	TYMP	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GBenign
Select item 793629	NM_001953.5(TYMP):c.198G>A (p.Ala66=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 766178	NM_001953.5(TYMP):c.194G>A (p.Ser65Asn)	TYMP (S65N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 751220	NM_001953.5(TYMP):c.177C>T (p.Ala59=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799065	NM_001953.5(TYMP):c.135C>T (p.Asp45=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 991427	NM_001953.5(TYMP):c.131G>C (p.Arg44Pro)	TYMP (R44P)	Single nucleotide variant (missense variant)	Mitochondrial neurogastrointestinal encephalomyopathy	GUncertain significance

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Items: 57