"Baylor Genetics"[submitter] AND "TYMP"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 223071	NM_001953.5(TYMP):c.1301-1G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 223069	NM_001953.5(TYMP):c.1300+1G>A	TYMP, LOC130067862 +1 more	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1332698	NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	LOC130067862, SCO2 +1 more	Deletion (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 1	GPathogenic/Likely pathogenic
Select item 16659	NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	LOC130067862, SCO2 +1 more	Microsatellite (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 223054	NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)	LOC130067862, SCO2 +1 more (G387D +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 223064	NM_001953.5(TYMP):c.1160-1G>A	LOC130067862, TYMP +1 more (G392S)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GPathogenic
Select item 223065	NM_001953.5(TYMP):c.1159+2T>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic
Select item 985706	NM_001953.5(TYMP):c.1159+1G>A	SCO2, TYMP +1 more	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GPathogenic
Select item 2679396	NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)	LOC130067862, SCO2 +1 more (S362*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1029552	NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg)	LOC130067862, SCO2 +1 more (C361R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 828126	NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)	LOC130067862, SCO2 +1 more (Q350*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2138462	NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)	SCO2, TYMP +1 more (L347P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 870754	NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)	LOC130067862, TYMP (W315*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632392	NM_001953.5(TYMP):c.929-1G>A	LOC130067862, TYMP	Single nucleotide variant (splice acceptor variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2679394	NM_001953.5(TYMP):c.928+1dup	LOC130067862, TYMP	Duplication (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 223046	NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	TYMP (G298D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GLikely pathogenic
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 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 16666	NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)	TYMP (L285P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3240670	NM_001953.5(TYMP):c.765+2T>C	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3240671	NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)	TYMP (E250*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1965392	NM_001953.5(TYMP):c.739C>T (p.Gln247Ter)	TYMP (Q247*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 3240672	NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)	TYMP (E246*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1323728	NM_001953.5(TYMP):c.729del (p.Asn244fs)	TYMP (N244fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 223004	NM_001953.5(TYMP):c.647C>T (p.Ala216Val)	TYMP (A216V)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1484000	NM_001953.5(TYMP):c.647-1G>A	TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 844485	NM_001953.5(TYMP):c.646+1G>A	TYMP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 3240673	NM_001953.5(TYMP):c.554_561del (p.Val185fs)	TYMP (V185fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679397	NM_001953.5(TYMP):c.532_548dup (p.Cys183fs)	TYMP (C183fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679399	NM_001953.5(TYMP):c.536_539dup (p.Cys182fs)	TYMP (C182fs)	Duplication (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679398	NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)	TYMP (Q179*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 960929	NM_001953.5(TYMP):c.520C>T (p.Gln174Ter)	TYMP (Q174*)	Single nucleotide variant (nonsense)	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 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 2679401	NM_001953.5(TYMP):c.418-1G>A	TYMP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2679403	NM_001953.5(TYMP):c.417+2T>G	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 964197	NM_001953.5(TYMP):c.417+1G>A	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic
Select item 223024	NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)	TYMP (D114N)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1804073	NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)	TYMP (W108*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679395	NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)	TYMP (Q100*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 223022	NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	LOC130067864, TYMP (T92N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1456105	NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	LOC130067864, TYMP (R79*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 2679402	NM_001953.5(TYMP):c.207_214+6del	TYMP	Deletion (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 2679400	NM_001953.5(TYMP):c.214+1G>C	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 1030497	NM_001953.5(TYMP):c.113A>G (p.Glu38Gly)	TYMP (E38G)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 223014	NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)	TYMP (E38*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic
Select item 1074883	NM_001953.5(TYMP):c.20del (p.Pro7fs)	TYMP (P7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic

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Items: 53