ACAD10[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 2386566	NM_025247.6(ACAD10):c.31C>T (p.Arg11Cys)	ACAD10 (R11C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553295	NM_025247.6(ACAD10):c.32G>A (p.Arg11His)	ACAD10 (R11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134466	NM_025247.6(ACAD10):c.62T>G (p.Leu21Arg)	ACAD10 (L21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368083	NM_025247.6(ACAD10):c.82C>T (p.His28Tyr)	ACAD10 (H28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368323	NM_025247.6(ACAD10):c.146T>G (p.Met49Arg)	ACAD10 (M49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489182	NM_025247.6(ACAD10):c.253A>G (p.Asn85Asp)	ACAD10 (N85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134313	NM_025247.6(ACAD10):c.271T>C (p.Phe91Leu)	ACAD10 (F91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211017	NM_025247.6(ACAD10):c.290C>T (p.Thr97Ile)	ACAD10 (T97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518579	NM_025247.6(ACAD10):c.436C>T (p.Arg146Trp)	ACAD10 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316128	NM_025247.6(ACAD10):c.495A>C (p.Lys165Asn)	ACAD10 (K165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134452	NM_025247.6(ACAD10):c.500T>A (p.Phe167Tyr)	ACAD10 (F167Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557994	NM_025247.6(ACAD10):c.515G>A (p.Arg172Gln)	ACAD10 (R172Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260553	NM_025247.6(ACAD10):c.644G>A (p.Gly215Glu)	ACAD10 (G215E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329538	NM_025247.6(ACAD10):c.737G>A (p.Gly246Asp)	ACAD10 (G246D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212525	NM_025247.6(ACAD10):c.754G>T (p.Gly252Cys)	ACAD10 (G283C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134492	NM_025247.6(ACAD10):c.809T>C (p.Leu270Ser)	ACAD10 (L270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592405	NM_025247.6(ACAD10):c.851G>A (p.Gly284Asp)	ACAD10 (G284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362577	NM_025247.6(ACAD10):c.880G>A (p.Gly294Arg)	ACAD10 (G325R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495810	NM_025247.6(ACAD10):c.889A>C (p.Asn297His)	ACAD10 (N328H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258265	NM_025247.6(ACAD10):c.919C>T (p.Arg307Cys)	ACAD10 (R307C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274589	NM_025247.6(ACAD10):c.1033A>G (p.Asn345Asp)	ACAD10 (N376D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147639	GRCh38/hg38 12q24.12(chr12:111724654-111867329)x3	ACAD10, ALDH2 +8 more	Copy number gain	See cases	GBenign
Select item 2538528	NM_025247.6(ACAD10):c.1121C>T (p.Pro374Leu)	ACAD10 (P374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303321	NM_025247.6(ACAD10):c.1199G>A (p.Ser400Asn)	ACAD10 (S431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134133	NM_025247.6(ACAD10):c.1250A>G (p.Tyr417Cys)	ACAD10 (Y417C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298739	NM_025247.6(ACAD10):c.1258C>T (p.Arg420Cys)	ACAD10 (R451C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258888	NM_025247.6(ACAD10):c.1319T>C (p.Met440Thr)	ACAD10 (M440T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295464	NM_025247.6(ACAD10):c.1354C>G (p.Pro452Ala)	ACAD10 (P483A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134137	NM_025247.6(ACAD10):c.1357C>T (p.Arg453Cys)	ACAD10 (R453C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304107	NM_025247.6(ACAD10):c.1358G>A (p.Arg453His)	ACAD10 (R453H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3260546	NM_025247.6(ACAD10):c.1370C>A (p.Thr457Asn)	ACAD10 (T488N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643331	NM_025247.6(ACAD10):c.1387G>A (p.Asp463Asn)	ACAD10 (D463N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2540225	NM_025247.6(ACAD10):c.1390T>A (p.Phe464Ile)	ACAD10 (F464I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260573	NM_025247.6(ACAD10):c.1432G>A (p.Val478Met)	ACAD10 (V478M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134149	NM_025247.6(ACAD10):c.1441G>A (p.Val481Ile)	ACAD10 (V512I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134155	NM_025247.6(ACAD10):c.1474C>A (p.Pro492Thr)	ACAD10 (P523T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134162	NM_025247.6(ACAD10):c.1498T>C (p.Cys500Arg)	ACAD10 (C500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643332	NM_025247.6(ACAD10):c.1520C>G (p.Ser507Cys)	ACAD10 (S507C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291840	NM_025247.6(ACAD10):c.1600A>G (p.Met534Val)	ACAD10 (M565V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320015	NM_025247.6(ACAD10):c.1759G>A (p.Glu587Lys)	ACAD10 (E587K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378554	NM_025247.6(ACAD10):c.1777G>A (p.Ala593Thr)	ACAD10 (A593T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326128	NM_025247.6(ACAD10):c.1789G>A (p.Ala597Thr)	ACAD10 (A597T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376451	NM_025247.6(ACAD10):c.1880A>T (p.Gln627Leu)	ACAD10 (Q658L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339292	NM_025247.6(ACAD10):c.1909A>G (p.Ser637Gly)	ACAD10 (S637G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354688	NM_025247.6(ACAD10):c.2005C>T (p.Arg669Trp)	ACAD10 (R700W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134214	NM_025247.6(ACAD10):c.2006G>C (p.Arg669Pro)	ACAD10 (R669P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260563	NM_025247.6(ACAD10):c.2059A>G (p.Ser687Gly)	ACAD10 (S687G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260542	NM_025247.6(ACAD10):c.2121A>T (p.Lys707Asn)	ACAD10 (K707N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134224	NM_025247.6(ACAD10):c.2173G>A (p.Glu725Lys)	ACAD10 (E725K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329941	NM_025247.6(ACAD10):c.2173G>C (p.Glu725Gln)	ACAD10 (E725Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370905	NM_025247.6(ACAD10):c.2195T>C (p.Leu732Pro)	ACAD10 (L732P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557841	NM_025247.6(ACAD10):c.2237C>A (p.Thr746Lys)	ACAD10 (T777K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390355	NM_025247.6(ACAD10):c.2240C>T (p.Ser747Phe)	ACAD10 (S747F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152825	GRCh38/hg38 12q24.12(chr12:111746317-111815065)x3	ACAD10, ALDH2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2371010	NM_025247.6(ACAD10):c.2332C>T (p.Arg778Cys)	ACAD10 (R809C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472209	NM_025247.6(ACAD10):c.2365C>T (p.Arg789Cys)	ACAD10 (R789C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681685	NM_025247.6(ACAD10):c.2366G>A (p.Arg789His)	ACAD10 (R789H +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2410552	NM_025247.6(ACAD10):c.2540A>G (p.His847Arg)	ACAD10 (H847R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408623	NM_025247.6(ACAD10):c.2554C>T (p.Arg852Trp)	ACAD10 (R852W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484803	NM_025247.6(ACAD10):c.2618C>A (p.Thr873Lys)	ACAD10 (T904K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377096	NM_025247.6(ACAD10):c.2618C>T (p.Thr873Met)	ACAD10 (T904M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134320	NM_025247.6(ACAD10):c.2677C>T (p.Arg893Cys)	ACAD10 (R893C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260535	NM_025247.6(ACAD10):c.2686A>G (p.Lys896Glu)	ACAD10 (K927E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207936	NM_025247.6(ACAD10):c.2693A>G (p.Asn898Ser)	ACAD10 (N929S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305875	NM_025247.6(ACAD10):c.2717G>T (p.Gly906Val)	ACAD10 (G937V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261465	NM_025247.6(ACAD10):c.2729C>T (p.Ala910Val)	ACAD10 (A910V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357254	NM_025247.6(ACAD10):c.2806A>G (p.Met936Val)	ACAD10 (M936V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260584	NM_025247.6(ACAD10):c.2822A>G (p.Lys941Arg)	ACAD10 (K941R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134359	NM_025247.6(ACAD10):c.2822A>C (p.Lys941Thr)	ACAD10 (K972T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523868	NM_025247.6(ACAD10):c.2827C>T (p.Arg943Cys)	ACAD10 (R943C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332240	NM_025247.6(ACAD10):c.2864C>A (p.Thr955Lys)	ACAD10 (T955K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530459	NM_025247.6(ACAD10):c.2933C>T (p.Ala978Val)	ACAD10 (A1009V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366654	NM_025247.6(ACAD10):c.2960A>C (p.Lys987Thr)	ACAD10 (K987T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235225	NM_025247.6(ACAD10):c.2998G>T (p.Ala1000Ser)	ACAD10 (A1000S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134410	NM_025247.6(ACAD10):c.3017G>A (p.Arg1006Gln)	ACAD10 (R1006Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260594	NM_025247.6(ACAD10):c.3029G>A (p.Arg1010His)	ACAD10 (R1010H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134420	NM_025247.6(ACAD10):c.3073C>T (p.Pro1025Ser)	ACAD10 (P1025S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134435	NM_025247.6(ACAD10):c.3143C>T (p.Ala1048Val)	ACAD10 (A1048V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365700	NM_025247.6(ACAD10):c.3173G>A (p.Arg1058His)	ACAD10 (R1089H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 624470	GRCh37/hg19 12q24.12(chr12:111861041-112280895)x3	ATXN2, BRAP +4 more	Copy number gain	not provided	GUncertain significance
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 394458	GRCh37/hg19 12q24.12-24.13(chr12:112194796-112304163)x3	ACAD10, ALDH2 +1 more	Copy number gain	See cases	GBenign/Likely benign
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 253882	GRCh37/hg19 12q24.12(chr12:111965765-112147523)x1	ATXN2, BRAP +1 more	Copy number loss	See cases	GUncertain significance
Select item 226222	GRCh37/hg19 12q24.12-24.13(chr12:112183921-112318246)	ACAD10, MAPKAPK5 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 226221	GRCh37/hg19 12q24.12-24.13(chr12:112183225-112327166)	MAPKAPK5, ACAD10 +1 more	Copy number gain	Abnormal esophagus morphology	GBenign

ClinVar

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Items: 90