ACACB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 145881	GRCh38/hg38 12q24.11(chr12:109081325-109154941)x3	ACACB, ALKBH2 +4 more	Copy number gain	See cases	GLikely benign
Select item 157261	NC_000012.12:g.109115044_109274670dup	ACACB, LOC124819395 +2 more	Duplication	Normal pregnancy	Gnot provided
Select item 145017	GRCh38/hg38 12q24.11(chr12:109121291-109209522)x4	ACACB, LOC130008713	Copy number gain	See cases	GBenign
Select item 2258887	NM_001093.4(ACACB):c.4G>A (p.Val2Ile)	ACACB (V2I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768579	NM_001093.4(ACACB):c.19C>T (p.Leu7=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2394408	NM_001093.4(ACACB):c.104G>A (p.Ser35Asn)	ACACB (S35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133603	NM_001093.4(ACACB):c.128C>T (p.Pro43Leu)	ACACB (P43L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3038985	NM_001093.4(ACACB):c.129G>A (p.Pro43=)	ACACB	Single nucleotide variant (synonymous variant +1 more)	ACACB-related disorder	GLikely benign
Select item 789325	NM_001093.4(ACACB):c.134A>G (p.Gln45Arg)	ACACB (Q45R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2394447	NM_001093.4(ACACB):c.140C>A (p.Pro47His)	ACACB (P47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219843	NM_001093.4(ACACB):c.173C>T (p.Pro58Leu)	ACACB (P58L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133668	NM_001093.4(ACACB):c.226C>T (p.Pro76Ser)	ACACB (P76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223157	NM_001093.4(ACACB):c.260G>A (p.Arg87Gln)	ACACB (R87Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133715	NM_001093.4(ACACB):c.266G>T (p.Arg89Ile)	ACACB (R89I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295088	NM_001093.4(ACACB):c.281C>T (p.Pro94Leu)	ACACB (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1130119	NM_001093.4(ACACB):c.306C>A (p.Asn102Lys)	ACACB (N102K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3260412	NM_001093.4(ACACB):c.322G>A (p.Asp108Asn)	ACACB (D108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492409	NM_001093.4(ACACB):c.355G>A (p.Gly119Arg)	ACACB (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605783	NM_001093.4(ACACB):c.378G>C (p.Glu126Asp)	ACACB (E126D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260413	NM_001093.4(ACACB):c.389C>G (p.Thr130Ser)	ACACB (T130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609514	NM_001093.4(ACACB):c.491A>G (p.Asn164Ser)	ACACB (N164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133931	NM_001093.4(ACACB):c.532G>C (p.Asp178His)	ACACB (D178H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1088444	NM_001093.4(ACACB):c.554G>A (p.Arg185His)	ACACB (R185H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3044486	NM_001093.4(ACACB):c.566G>A (p.Arg189Gln)	ACACB (R189Q)	Single nucleotide variant (missense variant +1 more)	ACACB-related disorder	GLikely benign
Select item 2595370	NM_001093.4(ACACB):c.572G>A (p.Gly191Asp)	ACACB (G191D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134006	NM_001093.4(ACACB):c.637C>T (p.Arg213Cys)	ACACB (R213C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561038	NM_001093.4(ACACB):c.638G>A (p.Arg213His)	ACACB (R213H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260418	NM_001093.4(ACACB):c.640G>A (p.Val214Ile)	ACACB (V214I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3064854	NM_001093.4(ACACB):c.653+8177G>T	ACACB	Single nucleotide variant (intron variant)	High density lipoprotein cholesterol level quantitative trait locus 6	GLikely benign
Select item 3049102	NM_001093.4(ACACB):c.656C>T (p.Pro219Leu)	ACACB (P10L +2 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GLikely benign
Select item 2329939	NM_001093.4(ACACB):c.723C>A (p.Asp241Glu)	ACACB (D241E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329940	NM_001093.4(ACACB):c.724T>G (p.Phe242Val)	ACACB (F40V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134116	NM_001093.4(ACACB):c.737C>T (p.Ser246Phe)	ACACB (S37F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542650	NM_001093.4(ACACB):c.758G>T (p.Arg253Leu)	ACACB (R253L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260407	NM_001093.4(ACACB):c.764G>C (p.Gly255Ala)	ACACB (G53A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033488	NM_001093.4(ACACB):c.786+7A>T	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3352314	NM_001093.4(ACACB):c.804C>T (p.Asn268=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 2251766	NM_001093.4(ACACB):c.824G>A (p.Cys275Tyr)	ACACB (C275Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134127	NM_001093.4(ACACB):c.838C>T (p.Arg280Cys)	ACACB (R280C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593210	NM_001093.4(ACACB):c.952G>A (p.Val318Ile)	ACACB (V109I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733375	NM_001093.4(ACACB):c.1029C>T (p.Pro343=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535834	NM_001093.4(ACACB):c.1037C>A (p.Ala346Glu)	ACACB (A137E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032646	NM_001093.4(ACACB):c.1038G>A (p.Ala346=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3133582	NM_001093.4(ACACB):c.1072C>T (p.Pro358Ser)	ACACB (P156S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133585	NM_001093.4(ACACB):c.1073C>G (p.Pro358Arg)	ACACB (P149R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471274	NM_001093.4(ACACB):c.1082C>T (p.Pro361Leu)	ACACB (P152L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569878	NM_001093.4(ACACB):c.1094G>T (p.Cys365Phe)	ACACB (C163F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051356	NM_001093.4(ACACB):c.1117+3A>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 2466352	NM_001093.4(ACACB):c.1159G>A (p.Ala387Thr)	ACACB (A178T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047977	NM_001093.4(ACACB):c.1173C>T (p.Val391=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 2264030	NM_001093.4(ACACB):c.1222A>T (p.Thr408Ser)	ACACB (T199S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393233	NM_001093.4(ACACB):c.1256G>A (p.Gly419Glu)	ACACB (G210E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133609	NM_001093.4(ACACB):c.1319G>C (p.Gly440Ala)	ACACB (G231A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529957	NM_001093.4(ACACB):c.1354A>G (p.Met452Val)	ACACB (M243V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054364	NM_001093.4(ACACB):c.1422G>C (p.Pro474=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 712122	NM_001093.4(ACACB):c.1438-5G>A	ACACB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3133614	NM_001093.4(ACACB):c.1460C>T (p.Ser487Leu)	ACACB (S285L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806933	NM_001093.4(ACACB):c.1467C>A (p.Ile489=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3051352	NM_001093.4(ACACB):c.1491C>T (p.His497=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3260424	NM_001093.4(ACACB):c.1496G>A (p.Arg499His)	ACACB (R297H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720486	NM_001093.4(ACACB):c.1593T>G (p.Val531=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2633876	NM_001093.4(ACACB):c.1734C>G (p.Phe578Leu)	ACACB (F369L +2 more)	Single nucleotide variant (missense variant)	ACACB-related disorder	GUncertain significance
Select item 2335514	NM_001093.4(ACACB):c.1750C>T (p.Arg584Cys)	ACACB (R382C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234880	NM_001093.4(ACACB):c.1789G>A (p.Asp597Asn)	ACACB (D388N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210258	NM_001093.4(ACACB):c.1792G>A (p.Val598Ile)	ACACB (V389I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047386	NM_001093.4(ACACB):c.1819-7A>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 2305338	NM_001093.4(ACACB):c.1859G>A (p.Arg620Gln)	ACACB (R418Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133630	NM_001093.4(ACACB):c.1883G>T (p.Trp628Leu)	ACACB (W426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596429	NM_001093.4(ACACB):c.1930G>A (p.Ala644Thr)	ACACB (A442T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621535	NM_001093.4(ACACB):c.1934G>A (p.Arg645Gln)	ACACB (R436Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380846	NM_001093.4(ACACB):c.1942G>A (p.Val648Ile)	ACACB (V446I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730800	NM_001093.4(ACACB):c.1950C>T (p.Ala650=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996708	NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly)	ACACB (S655G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 3052148	NM_001093.4(ACACB):c.1980+9T>G	ACACB	Single nucleotide variant (intron variant)	ACACB-related disorder	GLikely benign
Select item 3260408	NM_001093.4(ACACB):c.2024G>A (p.Arg675Gln)	ACACB (R473Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219339	NM_001093.4(ACACB):c.2030G>A (p.Ser677Asn)	ACACB (S468N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 721761	NM_001093.4(ACACB):c.2037C>T (p.Asn679=)	ACACB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029023	NM_001093.4(ACACB):c.2088G>A (p.Ala696=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3260406	NM_001093.4(ACACB):c.2093C>T (p.Ser698Phe)	ACACB (S496F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556575	NM_001093.4(ACACB):c.2129G>A (p.Arg710Gln)	ACACB (R508Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2049236	NM_001093.4(ACACB):c.2144+10TCCT[18]	ACACB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2037572	NM_001093.4(ACACB):c.2144+10TCCT[17]	ACACB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 769831	NM_001093.4(ACACB):c.2144+10TCCT[16]	ACACB	Microsatellite (intron variant)	not provided	GBenign
Select item 773683	NM_001093.4(ACACB):c.2144+10TCCT[11]	ACACB	Microsatellite (intron variant)	not provided	GBenign
Select item 771459	NM_001093.4(ACACB):c.2144+10TCCT[10]	ACACB	Microsatellite (intron variant)	not provided	GBenign
Select item 768580	NM_001093.4(ACACB):c.2144+10TCCT[12]	ACACB	Microsatellite (intron variant)	not provided	GBenign
Select item 402333	NM_001093.4(ACACB):c.2144+10TCCT[13]	ACACB	Microsatellite (intron variant)	not specified	GBenign
Select item 2208289	NM_001093.4(ACACB):c.2180G>A (p.Arg727Gln)	ACACB (R525Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040362	NM_001093.4(ACACB):c.2199C>T (p.Thr733=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 3133658	NM_001093.4(ACACB):c.2254G>A (p.Asp752Asn)	ACACB (D543N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040788	NM_001093.4(ACACB):c.2259C>T (p.Thr753=)	ACACB	Single nucleotide variant (synonymous variant)	ACACB-related disorder	GLikely benign
Select item 2388695	NM_001093.4(ACACB):c.2260G>A (p.Gly754Arg)	ACACB (G552R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343405	NM_001093.4(ACACB):c.2265G>T (p.Trp755Cys)	ACACB (W553C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599385	NM_001093.4(ACACB):c.2320G>A (p.Gly774Arg)	ACACB (G572R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326195	NM_001093.4(ACACB):c.2327T>C (p.Val776Ala)	ACACB (V776A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133675	NM_001093.4(ACACB):c.2332G>A (p.Gly778Arg)	ACACB (G778R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260416	NM_001093.4(ACACB):c.2353G>C (p.Ala785Pro)	ACACB (A576P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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