"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TYMP"[gene - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139088	NM_005138.3(SCO2):c.776C>T (p.Ala259Val)	NCAPH2, SCO2 +1 more (A259V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GBenign/Likely benign
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 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 2653401	NM_001953.5(TYMP):c.1165G>A (p.Val389Met)	LOC130067862, SCO2 +1 more (V389M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 223064	NM_001953.5(TYMP):c.1160-1G>A	LOC130067862, SCO2 +1 more (G392S)	Single nucleotide variant (missense variant +3 more)	Mitochondrial DNA depletion syndrome 1 +2 more	GPathogenic
Select item 137875	NM_001953.5(TYMP):c.1159+12G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 342139	NM_001953.5(TYMP):c.1137G>A (p.Glu379=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 378841	NM_001953.5(TYMP):c.1071C>T (p.Ala357=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 872413	NM_001953.5(TYMP):c.1034G>A (p.Arg345Gln)	LOC130067862, SCO2 +1 more (R345Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870753	NM_001953.5(TYMP):c.996_1026del (p.Ala333fs)	LOC130067862, SCO2 +1 more (A333fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 870754	NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)	LOC130067862, TYMP (W315*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign/Likely benign
Select item 1080680	NM_001953.5(TYMP):c.867G>A (p.Glu289=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 669825	NM_001953.5(TYMP):c.789G>A (p.Gly263=)	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 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 870755	NM_001953.5(TYMP):c.274del (p.Thr92fs)	LOC130067864, TYMP (T92fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 793239	NM_001953.5(TYMP):c.267G>A (p.Ser89=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137872	NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)	LOC130067864, TYMP (R81Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 902223	NM_001953.5(TYMP):c.46G>C (p.Gly16Arg)	TYMP (G16R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic

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Items: 24