ClinVar for Gene (Select 5019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891888	NM_000436.4(OXCT1):c.40T>C (p.Cys14Arg)	OXCT1, OXCT1-AS1 (C14R)	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3884836	NM_000436.4(OXCT1):c.53G>T (p.Arg18Leu)	OXCT1-AS1, OXCT1 (R18L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3884835	NM_000436.4(OXCT1):c.1192A>G (p.Met398Val)	OXCT1 (M212V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3884834	NM_000436.4(OXCT1):c.865G>C (p.Asp289His)	OXCT1 (D103H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3884833	NM_000436.4(OXCT1):c.896A>G (p.Asp299Gly)	OXCT1 (D113G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3884832	NM_000436.4(OXCT1):c.55G>A (p.Gly19Arg)	OXCT1, OXCT1-AS1 (G19R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3775803	NM_000436.4(OXCT1):c.437G>A (p.Arg146His)	OXCT1 (R146H +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3731449	NM_000436.4(OXCT1):c.1070A>G (p.His357Arg)	OXCT1 (H171R +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3725556	NM_000436.4(OXCT1):c.1458G>A (p.Leu486=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3720024	NM_000436.4(OXCT1):c.733-12C>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3713686	NM_000436.4(OXCT1):c.1173-20T>C	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3712215	NM_000436.4(OXCT1):c.900C>T (p.Asp300=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3711186	NM_000436.4(OXCT1):c.1116T>C (p.Thr372=)	LOC121725203, OXCT1	Single nucleotide variant (synonymous variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3692345	NM_000436.4(OXCT1):c.1134T>C (p.Ser378=)	LOC121725203, OXCT1	Single nucleotide variant (synonymous variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3668844	NM_000436.4(OXCT1):c.444C>T (p.Gly148=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3643436	NM_000436.4(OXCT1):c.1002C>A (p.Ser334Arg)	OXCT1 (S148R +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3630282	NM_000436.4(OXCT1):c.564+8A>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3624354	NM_000436.4(OXCT1):c.1497G>A (p.Gln499=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3618117	NM_000436.4(OXCT1):c.645G>A (p.Ala215=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3412891	NM_000436.4(OXCT1):c.1497G>T (p.Gln499His)	OXCT1 (Q313H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3412890	NM_000436.4(OXCT1):c.702G>A (p.Met234Ile)	OXCT1 (M234I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3412889	NM_000436.4(OXCT1):c.241G>A (p.Gly81Arg)	OXCT1 (G88R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3412888	NM_000436.4(OXCT1):c.68C>T (p.Thr23Ile)	OXCT1, OXCT1-AS1 (T23I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3384092	NM_000436.4(OXCT1):c.1286dup (p.Leu429fs)	OXCT1 (L243fs +3 more)	Duplication (frameshift variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
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 3339817	NM_000436.4(OXCT1):c.1460_1463del (p.Ile487fs)	OXCT1 (I301fs +4 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3207532	NM_000436.4(OXCT1):c.238A>C (p.Thr80Pro)	OXCT1 (T80P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3068143	NM_000436.4(OXCT1):c.955G>A (p.Ala319Thr)	OXCT1 (A133T +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
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 3041841	NM_000436.4(OXCT1):c.415-1537del	OXCT1	Deletion (intron variant)	OXCT1-related disorder	GLikely benign
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 3022681	NM_000436.4(OXCT1):c.78+12G>A	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3017288	NM_000436.4(OXCT1):c.6G>A (p.Ala2=)	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely 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 2958524	NM_000436.4(OXCT1):c.955+18G>A	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2910875	NM_000436.4(OXCT1):c.78+17G>A	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	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 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 2851817	NM_000436.4(OXCT1):c.188-14T>C	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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
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 2796690	NM_000436.4(OXCT1):c.283G>C (p.Asp95His)	OXCT1 (D102H +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2777331	NM_000436.4(OXCT1):c.79-11T>A	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2761644	NM_000436.4(OXCT1):c.564+14T>C	OXCT1	Single nucleotide variant (intron variant)	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 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 2689646	NM_000436.4(OXCT1):c.251G>A (p.Gly84Glu)	OXCT1 (G84E +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	GHR, LOC114803477 +386 more	Copy number gain	See cases	GLikely pathogenic
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 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 2569061	NM_000436.4(OXCT1):c.718A>G (p.Thr240Ala)	OXCT1 (T240A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553585	NM_000436.4(OXCT1):c.260C>T (p.Ala87Val)	OXCT1 (A87V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544412	NM_000436.4(OXCT1):c.332T>C (p.Met111Thr)	OXCT1 (M118T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2469068	NM_000436.4(OXCT1):c.901G>A (p.Val301Ile)	OXCT1 (V299I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434534	NM_000436.4(OXCT1):c.863G>C (p.Gly288Ala)	OXCT1 (G102A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434533	NM_000436.4(OXCT1):c.523A>G (p.Asn175Asp)	OXCT1 (N175D +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2434532	NM_000436.4(OXCT1):c.564+44C>T	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2415841	NM_000436.4(OXCT1):c.415-15G>A	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2413207	NM_000436.4(OXCT1):c.188-14T>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2330764	NM_000436.4(OXCT1):c.89G>T (p.Cys30Phe)	OXCT1 (C30F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285069	NM_000436.4(OXCT1):c.418A>C (p.Thr140Pro)	OXCT1 (T140P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2265556	NM_000436.4(OXCT1):c.571G>A (p.Glu191Lys)	OXCT1 (E198K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2201560	NM_000436.4(OXCT1):c.732+15T>C	OXCT1	Single nucleotide variant (intron variant)	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 2188784	NM_000436.4(OXCT1):c.1100-18GT[8]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2168786	NM_000436.4(OXCT1):c.329G>A (p.Arg110His)	OXCT1 (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153219	NM_000436.4(OXCT1):c.1100-19del	LOC121725203, OXCT1	Deletion (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2144185	NM_000436.4(OXCT1):c.42C>T (p.Cys14=)	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2140729	NM_000436.4(OXCT1):c.842G>A (p.Arg281His)	OXCT1 (R279H +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2115740	NM_000436.4(OXCT1):c.873dup (p.Ala292fs)	OXCT1 (A290fs +3 more)	Duplication (frameshift variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2111578	NM_000436.4(OXCT1):c.841-4A>G	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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 2080929	NM_000436.4(OXCT1):c.261A>T (p.Ala87=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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 2074449	NM_000436.4(OXCT1):c.414+18del	OXCT1	Deletion (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2071771	NM_000436.4(OXCT1):c.732+6A>G	OXCT1	Single nucleotide variant (intron variant)	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 2037417	NM_000436.4(OXCT1):c.1100-18GT[6]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2017852	NM_000436.4(OXCT1):c.486G>C (p.Gly162=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2015240	NM_000436.4(OXCT1):c.824A>G (p.Tyr275Cys)	OXCT1 (Y273C +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
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 1998786	NM_000436.4(OXCT1):c.516C>G (p.Ile172Met)	OXCT1 (I179M +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1979776	NM_000436.4(OXCT1):c.237A>G (p.Lys79=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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 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 1949544	NM_000436.4(OXCT1):c.79-20T>A	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1939138	NM_000436.4(OXCT1):c.674A>G (p.Lys225Arg)	OXCT1 (K232R +2 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
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 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	PRKAA1, UGT3A2 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
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 1686001	NM_000436.4(OXCT1):c.733-2A>G	OXCT1	Single nucleotide variant (splice acceptor variant)	Succinyl-CoA acetoacetate transferase deficiency	GPathogenic
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 1645483	NM_000436.4(OXCT1):c.672-7C>T	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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

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