"GeneDx"[submitter] AND "TYMP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
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 342126	NM_005138.3(SCO2):c.237G>A (p.Arg79=)	NCAPH2, SCO2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GConflicting classifications of pathogenicity
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 139081	NM_005138.3(SCO2):c.-18G>A	LOC130067861, TYMP +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +5 more	GBenign
Select item 342133	NM_005138.3(SCO2):c.-135_-132dup	SCO2, TYMP	Duplication (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 137880	NM_001953.5(TYMP):c.*10G>A	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137879	NM_001953.5(TYMP):c.*3C>T	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1805268	NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)	SCO2, TYMP (Q482* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
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 215345	NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg)	LOC130067862, SCO2 +1 more (P480R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817030	NM_001953.5(TYMP):c.1416del (p.Phe473fs)	LOC130067862, SCO2 +1 more (F478fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
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 223011	NM_001953.5(TYMP):c.1401C>T (p.Phe467=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	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)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign/Likely benign
Select item 384577	NM_001953.5(TYMP):c.1389C>T (p.Asp463=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely 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 422017	NM_001953.5(TYMP):c.1301-12dup	LOC130067862, SCO2 +1 more	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1203795	NM_001953.5(TYMP):c.1301-35G>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187223	NM_001953.5(TYMP):c.1300+28C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Inborn genetic diseases +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 1315419	NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu)	LOC130067862, SCO2 +1 more (Q429L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343506	NM_001953.5(TYMP):c.1283_1284delinsAA (p.Gly428Glu)	LOC130067862, SCO2 +1 more (G428E +1 more)	Indel (missense variant +2 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 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 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 215339	NM_001953.5(TYMP):c.1219G>A (p.Gly407Arg)	SCO2, TYMP +1 more (G407R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 215326	NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp)	LOC130067862, SCO2 +1 more (E390D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1290552	NM_001953.5(TYMP):c.1160-29C>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673707	NM_001953.5(TYMP):c.1160-48G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516843	NM_001953.5(TYMP):c.1159+18C>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 215344	NM_001953.5(TYMP):c.1159+5G>A	SCO2, TYMP +1 more	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GUncertain significance
Select item 3338737	NM_001953.5(TYMP):c.1145T>C (p.Leu382Pro)	LOC130067862, SCO2 +1 more (L382P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305829	NM_001953.5(TYMP):c.1142T>G (p.Leu381Arg)	LOC130067862, SCO2 +1 more (L381R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 215325	NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln)	LOC130067862, SCO2 +1 more (R376Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2504710	NM_001953.5(TYMP):c.1110G>T (p.Gln370His)	LOC130067862, SCO2 +1 more (Q370H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 215338	NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg)	SCO2, TYMP +1 more (G363R)	Single nucleotide variant (missense variant +1 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 378841	NM_001953.5(TYMP):c.1071C>T (p.Ala357=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
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=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 1262056	NM_001953.5(TYMP):c.970G>T (p.Ala324Ser)	LOC130067862, SCO2 +1 more (A324S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign
Select item 515986	NM_001953.5(TYMP):c.929-16C>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507882	NM_001953.5(TYMP):c.928+3G>A	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not specified	GLikely 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 215337	NM_001953.5(TYMP):c.895C>A (p.Pro299Thr)	LOC130067862, TYMP (P299T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215323	NM_001953.5(TYMP):c.874C>G (p.Leu292Val)	TYMP (L292V)	Single nucleotide variant (missense variant)	not provided +1 more	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 1310683	NM_001953.5(TYMP):c.862G>A (p.Glu288Lys)	TYMP (E288K)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 516842	NM_001953.5(TYMP):c.861G>A (p.Val287=)	TYMP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 342145	NM_001953.5(TYMP):c.858G>A (p.Glu286=)	TYMP	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1921794	NM_001953.5(TYMP):c.841G>A (p.Val281Met)	TYMP (V281M)	Single nucleotide variant (missense variant)	not provided	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 215322	NM_001953.5(TYMP):c.814G>A (p.Ala272Thr)	TYMP (A272T)	Single nucleotide variant (missense variant)	not provided +1 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 682387	NM_001953.5(TYMP):c.786A>G (p.Leu262=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574727	NM_001953.5(TYMP):c.767T>C (p.Val256Ala)	TYMP (V256A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186256	NM_001953.5(TYMP):c.765+178G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 432522	NM_001953.5(TYMP):c.709G>T (p.Gly237Ter)	TYMP (G237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 215335	NM_001953.5(TYMP):c.676G>A (p.Gly226Arg)	TYMP (G226R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 215320	NM_001953.5(TYMP):c.646+8G>A	TYMP	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 514802	NM_001953.5(TYMP):c.639C>T (p.Leu213=)	TYMP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 796713	NM_001953.5(TYMP):c.621C>T (p.Thr207=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 16665	NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)	TYMP (R202T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 215319	NM_001953.5(TYMP):c.519G>A (p.Met173Ile)	TYMP (M173I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 223031	NM_001953.5(TYMP):c.518T>G (p.Met173Arg)	TYMP (M173R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GLikely pathogenic
Select item 515450	NM_001953.5(TYMP):c.517-14G>A	TYMP	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 512317	NM_001953.5(TYMP):c.517-15G>A	TYMP	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1265079	NM_001953.5(TYMP):c.517-38T>C	TYMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291576	NM_001953.5(TYMP):c.517-56_517-52del	TYMP	Deletion (intron variant)	not provided	GBenign
Select item 1287189	NM_001953.5(TYMP):c.517-55_517-52del	TYMP	Deletion (intron variant)	not provided	GBenign
Select item 1243921	NM_001953.5(TYMP):c.517-57_517-52del	TYMP	Deletion (intron variant)	not provided	GBenign
Select item 1224294	NM_001953.5(TYMP):c.517-52del	TYMP	Deletion (intron variant)	not provided	GBenign
Select item 1198443	NM_001953.5(TYMP):c.517-58_517-52del	TYMP	Deletion (intron variant)	not provided	GLikely benign
Select item 1178609	NM_001953.5(TYMP):c.517-54_517-52del	TYMP	Deletion (intron variant)	not provided	GBenign
Select item 674440	NM_001953.5(TYMP):c.517-206G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216425	NM_001953.5(TYMP):c.517-285T>C	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188687	NM_001953.5(TYMP):c.516+256G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674439	NM_001953.5(TYMP):c.516+168G>T	TYMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671618	NM_001953.5(TYMP):c.516+27A>G	TYMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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