acetyl coenzyme a - ClinVar - NCBI

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Showing results for Acetonyl-coenzyme a. Search instead for Acetonyl-coenzyme a (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440023	NM_000532.5(PCCB):c.163A>G (p.Ile55Val)	PCCB (I55V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 217894	NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)	PCCB (R165W +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2677518	NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)	PCCB (R165P +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 551146	NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)	PCCB (R165Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 12015	NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)	PCCB (E168K +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 558327	NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)	PCCB (G188R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1705197	NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)	PCCB (G198D +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 1495204	NM_000532.5(PCCB):c.646A>G (p.Met216Val)	PCCB (M236V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 198428	NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)	PCCB (P228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 3366366	NM_000532.5(PCCB):c.748C>A (p.His250Asn)	PCCB (H250N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503935	NM_000532.5(PCCB):c.773A>G (p.His258Arg)	PCCB (H258R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 704622	NM_000532.5(PCCB):c.774C>G (p.His258Gln)	PCCB (H258Q +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 380595	NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)	PCCB (C291Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 899560	NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)	PCCB (S295T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1331492	NM_000532.5(PCCB):c.947T>G (p.Met316Arg)	PCCB (M316R +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1451151	NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)	PCCB (R376C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1072009	NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)	PCCB (D382E +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1942487	NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)	PCCB (F391S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1687539	NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)	PCCB (P399R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1954965	NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)	PCCB (G427S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 12011	NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)	PCCB (R410W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2203447	NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)	PCCB (A418V +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GUncertain significance
Select item 225429	NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)	PCCB (Y439C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 2193457	NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)	PCCB (A468S +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GUncertain significance
Select item 3336468	NM_000532.5(PCCB):c.1403C>T (p.Ala468Val)	PCCB (A468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 38879	NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)	PCCB (R512C +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GPathogenic
Select item 849881	NM_000532.5(PCCB):c.1535G>A (p.Arg512His)	PCCB (R512H +1 more)	Single nucleotide variant (missense variant)	Propionic acidemia	GLikely pathogenic
Select item 2203656	NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)	MCCC2 (T139I)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GLikely pathogenic
Select item 535828	NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)	MCCC2 (K152T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1923	NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	MCCC2 (C167R)	Single nucleotide variant (missense variant)	Methylcrotonyl-CoA carboxylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 198251	NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)	MCCC2 (S173W)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 198252	NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)	MCCC2 (H190Y)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 203804	NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)	MCCC2 (R193C)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 167278	NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	MCCC2 (I200N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 650003	NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)	MCCC2 (G214A)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 575151	NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)	MCCC2 (A218V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 577397	NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	MCCC2 (N230D)	Single nucleotide variant (missense variant +1 more)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 467811	NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)	MCCC2 (R332Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2682465	NM_022132.5(MCCC2):c.1052A>G (p.Tyr351Cys)	MCCC2 (Y313C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1521043	NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)	MCCC2 (G352R +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203806	NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	MCCC2 (L355F +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1477647	NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)	MCCC2 (P397A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1036699	NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)	MCCC2 (V396L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203808	NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)	MCCC2 (I441T +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +2 more	GUncertain significance
Select item 467803	NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	MCCC2 (G475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 96030	NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)	MCCC2 (A478G +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1066068	NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)	MCCC2 (G479R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 467805	NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)	MCCC2 (Y520S +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1705095	NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)	MCCC2 (A486T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1011673	NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)	MCCC2 (K517E +1 more)	Single nucleotide variant (missense variant)	3-methylcrotonyl-CoA carboxylase 2 deficiency +1 more	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 666471	NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)	ACAT1 (Q96*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 208655	NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg)	CREBBP (H1470R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 100662	NM_025233.7(COASY):c.1495C>T (p.Arg499Cys)	COASY (R499C +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 6 +2 more	GPathogenic
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2422709	NC_000017.10:g.(?_40688291)_(40729741_?)dup	COASY, HSD17B1 +3 more	Duplication	Charcot-Marie-Tooth disease axonal type 2V +1 more	GUncertain significance
Select item 686402	GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 686203	GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3	ATP6V0A1, COASY +6 more	Copy number gain	not provided	GUncertain significance
Select item 564446	GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3	HSD17B1, NAGLU +7 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic

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