OXCT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 904182	NM_000436.4(OXCT1):c.*1616A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 904183	NM_000436.4(OXCT1):c.*1473G>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353644	NM_000436.4(OXCT1):c.*1444G>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 353645	NM_000436.4(OXCT1):c.*1434G>C	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 904184	NM_000436.4(OXCT1):c.*1345A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 904963	NM_000436.4(OXCT1):c.*1266A>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353646	NM_000436.4(OXCT1):c.*1229C>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353647	NM_000436.4(OXCT1):c.*1077dup	OXCT1	Duplication (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353648	NM_000436.4(OXCT1):c.*1072A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353649	NM_000436.4(OXCT1):c.*1041G>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 904964	NM_000436.4(OXCT1):c.*1023G>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 904965	NM_000436.4(OXCT1):c.*1011T>C	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 904966	NM_000436.4(OXCT1):c.*965T>C	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 904967	NM_000436.4(OXCT1):c.*956T>C	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353650	NM_000436.4(OXCT1):c.*935A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 906551	NM_000436.4(OXCT1):c.*583G>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353651	NM_000436.4(OXCT1):c.*567C>T	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 906552	NM_000436.4(OXCT1):c.*362C>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353652	NM_000436.4(OXCT1):c.*191A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 906553	NM_000436.4(OXCT1):c.*188A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353653	NM_000436.4(OXCT1):c.*157G>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 353654	NM_000436.4(OXCT1):c.*138C>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353655	NM_000436.4(OXCT1):c.*94A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 353656	NM_000436.4(OXCT1):c.*26G>A	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3031159	NM_000436.4(OXCT1):c.*1A>G	OXCT1	Single nucleotide variant (3 prime UTR variant +1 more)	OXCT1-related disorder	GLikely benign
Select item 2904251	NM_000436.4(OXCT1):c.1560T>C (p.Asn520=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 353657	NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr)	OXCT1 (A519T +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GUncertain significance
Select item 1055856	NM_000436.4(OXCT1):c.1543A>G (p.Met515Val)	OXCT1 (M329V +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2045451	NM_000436.4(OXCT1):c.1541C>T (p.Pro514Leu)	OXCT1 (P328L +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2080235	NM_000436.4(OXCT1):c.1522-4C>T	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1601733	NM_000436.4(OXCT1):c.1522-14dup	OXCT1	Duplication (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 1606984	NM_000436.4(OXCT1):c.1522-14del	OXCT1	Deletion (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 1928128	NM_000436.4(OXCT1):c.1522-20T>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1244816	NM_000436.4(OXCT1):c.1521+263G>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971410	NM_000436.4(OXCT1):c.1521+18C>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 907568	NM_000436.4(OXCT1):c.1520C>T (p.Ala507Val)	OXCT1 (A477V +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1654116	NM_000436.4(OXCT1):c.1509G>A (p.Gly503=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 785751	NM_000436.4(OXCT1):c.1506T>C (p.Thr502=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign/Likely benign
Select item 2255912	NM_000436.4(OXCT1):c.1495C>G (p.Gln499Glu)	OXCT1 (Q313E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1372826	NM_000436.4(OXCT1):c.1492G>A (p.Val498Ile)	OXCT1 (V468I +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 93003	NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 796969	NM_000436.4(OXCT1):c.1479G>A (p.Leu493=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2194717	NM_000436.4(OXCT1):c.1475G>A (p.Gly492Asp)	OXCT1 (G492D +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3339817	NM_000436.4(OXCT1):c.1460_1463del (p.Ile487fs)	OXCT1 (I301fs +4 more)	Deletion (frameshift variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
Select item 3062096	NM_000436.4(OXCT1):c.1456_1457del (p.Leu486fs)	OXCT1 (L300fs +4 more)	Microsatellite (frameshift variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 2283144	NM_000436.4(OXCT1):c.1454C>T (p.Thr485Ile)	OXCT1 (T455I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585526	NM_000436.4(OXCT1):c.1424T>C (p.Val475Ala)	OXCT1 (V289A +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1224157	NM_000436.4(OXCT1):c.1420-33T>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277182	NM_000436.4(OXCT1):c.1420-91C>T	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275040	NM_000436.4(OXCT1):c.1420-230dup	OXCT1	Duplication (intron variant)	not provided	GBenign
Select item 1705309	NM_000436.4(OXCT1):c.1419+1G>C	OXCT1	Single nucleotide variant (splice donor variant)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
Select item 907569	NM_000436.4(OXCT1):c.1413T>G (p.Thr471=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2870837	NM_000436.4(OXCT1):c.1403G>A (p.Arg468His)	OXCT1 (R468H +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1483131	NM_000436.4(OXCT1):c.1403G>T (p.Arg468Leu)	OXCT1 (R468L +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 800772	NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	OXCT1 (R438C +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GLikely pathogenic
Select item 1396567	NM_000436.4(OXCT1):c.1392A>G (p.Gln464=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2750265	NM_000436.4(OXCT1):c.1374A>G (p.Leu458=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1404673	NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg)	OXCT1 (T455R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1064695	NM_000436.4(OXCT1):c.1370C>T (p.Thr457Ile)	OXCT1 (T271I +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
Select item 8164	NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe)	OXCT1 (C456F +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
Select item 3207530	NM_000436.4(OXCT1):c.1339G>A (p.Gly447Arg)	OXCT1 (G445R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 973561	NM_000436.4(OXCT1):c.1339-2A>G	OXCT1	Single nucleotide variant (splice acceptor variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 353658	NM_000436.4(OXCT1):c.1339-12T>C	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1282554	NM_000436.4(OXCT1):c.1338+211A>T	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2010951	NM_000436.4(OXCT1):c.1321A>G (p.Met441Val)	OXCT1 (M448V +3 more)	Single nucleotide variant (missense variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1590637	NM_000436.4(OXCT1):c.1299G>A (p.Ala433=)	OXCT1	Single nucleotide variant (synonymous variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GLikely benign
Select item 2521400	NM_000436.4(OXCT1):c.1298C>T (p.Ala433Val)	OXCT1 (A247V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1566305	NM_000436.4(OXCT1):c.1296T>C (p.Ser432=)	OXCT1	Single nucleotide variant (synonymous variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3207529	NM_000436.4(OXCT1):c.1257G>A (p.Met419Ile)	OXCT1 (M419I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1260405	NM_000436.4(OXCT1):c.1248+273G>A	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 41497	NM_000436.4(OXCT1):c.1248+5G>A	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
Select item 1515710	NM_000436.4(OXCT1):c.1202C>T (p.Ala401Val)	OXCT1 (A215V +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1297521	NM_000436.4(OXCT1):c.1193T>C (p.Met398Thr)	OXCT1 (M212T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 904236	NM_000436.4(OXCT1):c.1183G>A (p.Asp395Asn)	OXCT1 (D209N +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign/Likely benign
Select item 2969023	NM_000436.4(OXCT1):c.1182C>T (p.Val394=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 942334	NM_000436.4(OXCT1):c.1180G>A (p.Val394Ile)	OXCT1 (V394I +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GUncertain significance
Select item 1064694	NM_000436.4(OXCT1):c.1173-139G>T	OXCT1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1951561	NM_000436.4(OXCT1):c.1146C>T (p.Ser382=)	LOC121725203, OXCT1	Single nucleotide variant (synonymous variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1514180	NM_000436.4(OXCT1):c.1115C>T (p.Thr372Ile)	LOC121725203, OXCT1 (T370I +3 more)	Single nucleotide variant (missense variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2188784	NM_000436.4(OXCT1):c.1100-18GT[8]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2037417	NM_000436.4(OXCT1):c.1100-18GT[6]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2108636	NM_000436.4(OXCT1):c.1100-6G>T	LOC121725203, OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2808799	NM_000436.4(OXCT1):c.1100-14G>C	LOC121725203, OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2153219	NM_000436.4(OXCT1):c.1100-19del	LOC121725203, OXCT1	Deletion (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 1164642	NM_000436.4(OXCT1):c.1099+17C>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 353659	NM_000436.4(OXCT1):c.1099+2T>C	OXCT1	Single nucleotide variant (splice donor variant)	Succinyl-CoA acetoacetate transferase deficiency	GConflicting classifications of pathogenicity
Select item 1612900	NM_000436.4(OXCT1):c.1092C>T (p.Ile364=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2706551	NM_000436.4(OXCT1):c.1089C>T (p.Leu363=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 353660	NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GConflicting classifications of pathogenicity
Select item 3345075	NM_000436.4(OXCT1):c.1063C>T (p.Arg355Ter)	OXCT1 (R169* +3 more)	Single nucleotide variant (nonsense +1 more)	OXCT1-related disorder	GLikely pathogenic
Select item 1254979	NM_000436.4(OXCT1):c.1050+212G>C	OXCT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2608127	NM_000436.4(OXCT1):c.1045G>T (p.Gly349Cys)	OXCT1 (G163C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2848285	NM_000436.4(OXCT1):c.973A>G (p.Ile325Val)	OXCT1 (I139V +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance

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