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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: exercise intolerance with lactic acidosis (MONDO:0016804)
Parent Node: fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy (MONDO:0016336)
Parent Node: fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy (MONDO:0016328)
Parent Node: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
..Starting node ..acyl-CoA dehydrogenase 9 deficiency ()
Child Nodes:
Sister Nodes:
..acyl-CoA dehydrogenase 9 deficiency () L: 00419;
..cardiomyopathy-hypotonia-lactic acidosis syndrome () L: 00040;
..combined oxidative phosphorylation defect type 17 () L: 00513;
..combined oxidative phosphorylation defect type 23 () L: 00516;
..encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome () L: 00448;
..fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ()
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..infantile hypertrophic cardiomyopathy due to MRPL44 deficiency () L: 00080;
..Leber hereditary optic neuropathy () L: 00072;
..Leber plus disease ()
..maternally-inherited cardiomyopathy and hearing loss ()
..MELAS syndrome () L: 00163;
..MERRF syndrome () L: 00162;
..mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency () L: 00093;
..mitochondrial trifunctional protein deficiency () L: 00417;
..neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome () L: 00639;
..optic atrophy-peripheral neuropathy-developmental delay syndrome ()
..Sengers syndrome () L: 00403;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12624

Name:

acyl-CoA dehydrogenase 9 deficiency

Definition:

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

Alternative IDs:

611126

ParentIDs:

TreeNumbers:

Synonyms:

ACAD9 deficiency; Acad9 deficiency; acyl-CoA dehydrogenase 9 deficiency; mitochondrial Complex 1 deficiency due to Acad9 deficiency; mitochondrial complex I deficiency due to ACAD9 deficiency

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 611126;
MSeqDR : 00419;
Genes: ACAD9;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002181	Cerebral edema
3	HP:0001635	Congestive heart failure
4	HP:0003215	Dicarboxylic aciduria	HP:0040283
5	HP:0001644	Dilated cardiomyopathy NAMDC: Dilated cardiomyopathy
6	HP:0002910	Elevated hepatic transaminases
7	HP:0001298	Encephalopathy NAMDC: Encephalopathy (At least one neurological manifestation marked with an *)
8	HP:0003546	Exercise intolerance NAMDC: Exercise intolerance
9	HP:0001290	Generalized hypotonia
10	HP:0001399	Hepatic failure
11	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
12	HP:0001943	Hypoglycemia
13	HP:0003128	Lactic acidosis
14	HP:0001414	Microvesicular hepatic steatosis
15	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
16	HP:0001297	Stroke NAMDC: Strokes or Stroke-like lesions*
17	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs)	28976	ACAD9	Pathogenic/Likely pathogenic	746312225	RCV001054855\|RCV002497421;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598540	128598565	3:g.128598540_128598565del	-
NM_014049.5(ACAD9):c.205C>T (p.Gln69Ter)	28976	ACAD9	Pathogenic/Likely pathogenic	765060373	RCV001937919\|RCV003464225;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128603550	128603550	128603550	-
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)	28976	ACAD9	Pathogenic/Likely pathogenic	148694290	RCV001388626\|RCV003469743;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612406	128612406	128612406	-
NM_014049.5(ACAD9):c.340G>T (p.Glu114Ter)	28976	ACAD9	Pathogenic/Likely pathogenic	2107648799	RCV001921124\|RCV003464236;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612493	128612493	128612493	-
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	28976	ACAD9	Pathogenic/Likely pathogenic	863224844	RCV000813209\|RCV000779382\|RCV002282085;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128614164	128614164	NC_000003.11:g.128614165del	ClinVar:424746,ClinVar:424761,ClinGen:CA353805	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer)	28976	ACAD9	Pathogenic/Likely pathogenic	2107651275	RCV002047607\|RCV003470954;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128615320	128615324	128615319	-
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	28976	ACAD9	Pathogenic/Likely pathogenic	753711253	RCV001007946\|RCV001582794\|RCV003317172;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128618292	128618292	NC_000003.11:g.128618292C>T	ClinGen:CA353810,ClinVar:424751	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.825del (p.Phe275fs)	28976	ACAD9	Pathogenic/Likely pathogenic	2107655510	RCV001884747\|RCV003471008;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128620132	128620132	128620131	-
NM_014049.5(ACAD9):c.957del (p.Ile319fs)	28976	ACAD9	Pathogenic/Likely pathogenic	2107656502	RCV001951010\|RCV003471169;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128621469	128621469	128621468	-
NM_014049.5(ACAD9):c.970dup (p.Glu324fs)	28976	ACAD9	Pathogenic/Likely pathogenic	2107657717	RCV001387355\|RCV003469731;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622915	128622916	128622915	-
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	28976	ACAD9	Pathogenic/Likely pathogenic	763004980	RCV001664971\|RCV002501999;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624982	128624982	128624982	-
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	28976	ACAD9	Pathogenic/Likely pathogenic	149753643	RCV000756947\|RCV001782730\|RCV002282084;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128625051	128625051	3:g.128625051G>A	ClinGen:CA353819,UniProtKB:Q9H845#VAR_071900,ClinVar:424749	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	28976	ACAD9	Pathogenic/Likely pathogenic	777282696	RCV000480130\|RCV001275865;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625054	128625054	3:g.128625054C>T	ClinGen:CA2601442	CN517202 not provided;
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	28976	ACAD9	Pathogenic/Likely pathogenic	368949613	RCV000023865\|RCV001852030\|RCV003234917;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128625063	128625063	3:g.128625063C>T	ClinGen:CA129516,UniProtKB:Q9H845#VAR_071902,ClinVar:424744,OMIM:611103.0004	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1288_1291dup (p.Ile431fs)	28976	ACAD9	Pathogenic/Likely pathogenic	2107661371	RCV001971916\|RCV003471074;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627036	128627037	128627036	-
NM_014049.5(ACAD9):c.1385_1386del (p.Thr462fs)	28976	ACAD9	Pathogenic/Likely pathogenic	-1	RCV002592238\|RCV003465977;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627840	128627841	NC_000003.11:g.128627840CA[1]	-
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	28976	ACAD9	Pathogenic/Likely pathogenic	866688232	RCV001071600\|RCV002471031;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627886	128627886	3:g.128627886C>T	-
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His)	28976	ACAD9	Pathogenic/Likely pathogenic	781149699	RCV001064710\|RCV001275867;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628254	128628254	3:g.128628254G>A	-
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	28976	ACAD9	Pathogenic/Likely pathogenic	377022708	RCV000023869\|RCV000200123\|RCV001844016;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128628894	128628894	3:g.128628894C>T	ClinVar:424746,ClinGen:CA129521,UniProtKB:Q9H845#VAR_071905,OMIM:611103.0006	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)	28976	ACAD9	Pathogenic/Likely pathogenic	-1	RCV002781273\|RCV003464600;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631388	128631389	NC_000003.11:g.128631390_128631400dup	-
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)	28976	ACAD9	Pathogenic/Likely pathogenic	778786636	RCV000520040\|RCV003470662;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631409	128631409	3:g.128631409C>T	ClinGen:CA2601726	CN517202 not provided;
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile)	28976	ACAD9	Pathogenic	387907041	RCV000023866;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598664	128598664	3:g.128598664T>A	ClinGen:CA129517,UniProtKB:Q9H845#VAR_071892,OMIM:611103.0002	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.184dup (p.Asp62fs)	28976	ACAD9	Pathogenic	1935194749	RCV001335613\|RCV001871875;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128603528	128603529	128603528	-
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)	28976	ACAD9	Pathogenic	387907042	RCV000023867\|RCV001857363;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128618293	128618293	3:g.128618293G>A	ClinGen:CA129518,UniProtKB:Q9H845#VAR_071897,OMIM:611103.0003	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1109del (p.Pro370fs)	28976	ACAD9	Pathogenic	1576344664	RCV001007945;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128623307	128623307	3:g.128623307_128623307del	-
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)	28976	ACAD9	Pathogenic	-1	RCV003225654;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624994	128624997		-
NM_014049.5(ACAD9):c.1278+1G>A	28976	ACAD9	Pathogenic	766305690	RCV001333000;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625093	128625093	128625093	-
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs)	28976	ACAD9	Pathogenic	1576347955	RCV000791055;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627092	128627093	3:g.128627092_128627093insGACTA	-
NM_014049.5(ACAD9):c.1687C>G (p.His563Asp)	28976	ACAD9	Pathogenic	1057518752	RCV000412667;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628987	128628987	3:g.128628987C>G	ClinGen:CA16042262,OMIM:611103.0008	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.5_30dup (p.Thr11fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466638;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598538	128598539		-
NM_014049.5(ACAD9):c.150+1G>T	28976	ACAD9	Likely pathogenic	-1	RCV003466641;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598685	128598685		-
NM_014049.5(ACAD9):c.151-1_151del	28976	ACAD9	Likely pathogenic	766026673	RCV001052315\|RCV001275863\|RCV002282438;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128603494	128603495	3:g.128603494_128603495del	-
NM_014049.5(ACAD9):c.209del (p.Phe70fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466626;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128603553	128603553		-
NM_014049.5(ACAD9):c.326del (p.Leu109fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466623;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612479	128612479		-
NM_014049.5(ACAD9):c.345T>A (p.Tyr115Ter)	28976	ACAD9	Likely pathogenic	-1	RCV003466606;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612498	128612498		-
NM_014049.5(ACAD9):c.346+1G>A	28976	ACAD9	Likely pathogenic	-1	RCV003466616;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612500	128612500		-
NM_014049.5(ACAD9):c.347-1G>A	28976	ACAD9	Likely pathogenic	-1	RCV003466625;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614152	128614152		-
NM_014049.5(ACAD9):c.347-1G>T	28976	ACAD9	Likely pathogenic	-1	RCV003466636;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614152	128614152		-
NM_014049.5(ACAD9):c.379A>T (p.Arg127Ter)	28976	ACAD9	Likely pathogenic	-1	RCV003466596;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614185	128614185		-
NM_014049.5(ACAD9):c.453+1G>A	28976	ACAD9	Likely pathogenic	-1	RCV003005875\|RCV003465889;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614260	128614260	NC_000003.11:g.128614260G>A	-
NM_014049.5(ACAD9):c.454-1G>T	28976	ACAD9	Likely pathogenic	-1	RCV003466644;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128615278	128615278		-
NM_014049.5(ACAD9):c.477_495del (p.Glu159fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466594;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128615302	128615320		-
NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg)	28976	ACAD9	Likely pathogenic	761102100	RCV000413407\|RCV001275864;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128615339	128615339	3:g.128615339G>A	ClinGen:CA2601177	CN517202 not provided;
NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg)	28976	ACAD9	Likely pathogenic	1257611357	RCV001089483;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128616552	128616552	3:g.128616552A>G	-
NM_014049.5(ACAD9):c.671_672del (p.Thr224fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466602;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618167	128618168		-
NM_014049.5(ACAD9):c.719_721delinsCC (p.Asp240fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466590;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618215	128618217		-
NM_014049.5(ACAD9):c.754delinsAA (p.Gly252fs)	28976	ACAD9	Likely pathogenic	2107653861	RCV001780639;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618250	128618250	128618250	-
NM_014049.5(ACAD9):c.803C>T (p.Ser268Phe)	28976	ACAD9	Likely pathogenic	-1	RCV002290211;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618299	128618299	128618299	-
NM_014049.5(ACAD9):c.809-1G>A	28976	ACAD9	Likely pathogenic	-1	RCV003466647;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128620118	128620118		-
NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu)	28976	ACAD9	Likely pathogenic	1935731505	RCV001089484;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128620152	128620152	3:g.128620152C>T	-
NM_014049.5(ACAD9):c.882+1G>A	28976	ACAD9	Likely pathogenic	750089899	RCV001378805\|RCV001831359;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128620193	128620193	128620193	-
NM_014049.5(ACAD9):c.958+2T>C	28976	ACAD9	Likely pathogenic	-1	RCV003466634;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128621473	128621473		-
NM_014049.5(ACAD9):c.1012_1015del (p.Glu338fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466639;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622957	128622960		-
NM_014049.5(ACAD9):c.1150-2A>G	28976	ACAD9	Likely pathogenic	2107659422	RCV001973012\|RCV003464336;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624962	128624962	128624962	-
NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val)	28976	ACAD9	Likely pathogenic	-1	RCV003225653;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624983	128624983		-
NM_014049.5(ACAD9):c.1195C>T (p.Gln399Ter)	28976	ACAD9	Likely pathogenic	-1	RCV003466633;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625009	128625009		-
NM_014049.5(ACAD9):c.1245dup (p.Leu416fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466611;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625058	128625059		-
NM_014049.5(ACAD9):c.1278+1G>T	28976	ACAD9	Likely pathogenic	766305690	RCV002034898\|RCV003470943;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625093	128625093	128625093	-
NM_014049.5(ACAD9):c.1279-2A>C	28976	ACAD9	Likely pathogenic	-1	RCV002904496\|RCV003465865;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627026	128627026	NC_000003.11:g.128627026A>C	-
NM_014049.5(ACAD9):c.1293del (p.Leu432fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466650;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627041	128627041		-
NM_014049.5(ACAD9):c.1312_1313del (p.Leu438fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466604;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627061	128627062		-
NM_014049.5(ACAD9):c.1344_1347del (p.Thr449fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466576;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627091	128627094		-
NM_014049.5(ACAD9):c.1359-104_1387del	28976	ACAD9	Likely pathogenic	-1	RCV003466581;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627709	128627841		-
NM_014049.5(ACAD9):c.1359-45_1383del	28976	ACAD9	Likely pathogenic	1936007409	RCV001224626\|RCV003469393;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627764	128627833	3:g.128627764_128627833del	-
NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys)	28976	ACAD9	Likely pathogenic	-1	RCV003225695;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627833	128627838		-
NM_014049.5(ACAD9):c.1397_1398dup (p.Val467fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466597;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627853	128627854		-
NM_014049.5(ACAD9):c.1423del (p.Leu475fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466575;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627878	128627878		-
NM_014049.5(ACAD9):c.1477dup (p.Ser493fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466599;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627933	128627934		-
NM_014049.5(ACAD9):c.1481_1482dup (p.Ala495fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466605;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627937	128627938		-
NM_014049.5(ACAD9):c.1486-2A>G	28976	ACAD9	Likely pathogenic	-1	RCV003466621;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628185	128628185		-
NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln)	28976	ACAD9	Likely pathogenic	770127110	RCV002262848\|RCV003469175;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628895	128628895	NC_000003.11:g.128628895G>A	ClinGen:CA353823,ClinVar:424747	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1597del (p.Val533fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466630;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628895	128628895		-
NM_014049.5(ACAD9):c.1674_1692+34del	28976	ACAD9	Likely pathogenic	2107664575	RCV001991010\|RCV003136403\|RCV002509733;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128628970	128629022	128628969	-
NM_014049.5(ACAD9):c.1692+1G>A	28976	ACAD9	Likely pathogenic	-1	RCV002605739\|RCV003465804;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628993	128628993	NC_000003.11:g.128628993G>A	-
NM_014049.5(ACAD9):c.1693-2A>G	28976	ACAD9	Likely pathogenic	1553734044	RCV000498952\|RCV001834604;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629582	128629582	3:g.128629582A>G	ClinGen:CA354440424	CN517202 not provided;
NM_014049.5(ACAD9):c.1693-1G>A	28976	ACAD9	Likely pathogenic	-1	RCV003233014;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629583	128629583		-
NM_014049.5(ACAD9):c.1752_1753del (p.Gln585fs)	28976	ACAD9	Likely pathogenic	-1	RCV003466607;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629638	128629639		-
NM_014049.5(ACAD9):c.1765+2T>A	28976	ACAD9	Likely pathogenic	-1	RCV003466629;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629658	128629658		-
NM_014049.4(ACAD9):c.-168T>C	28976	ACAD9	Conflicting interpretations of pathogenicity	183973851	RCV000362471\|RCV001545212;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128598367	128598367	NC_000003.11:g.128598367T>C	ClinGen:CA2600926	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.-91G>T	28976	ACAD9	Uncertain significance	749695064	RCV000272903;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598444	128598444	NC_000003.11:g.128598444G>T	ClinGen:CA2600950	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.-65GT[6]	28976	ACAD9	Uncertain significance	397874507	RCV000309266;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598469	128598470	NC_000003.11:g.128598470GT[6]	ClinGen:CA2600964	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.-65GT[4]	28976	ACAD9	Benign	397874507	RCV000359314\|RCV000832746;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128598470	128598471	NC_000003.11:g.128598470GT[4]	ClinGen:CA2600962	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.-44_-41dup	28976	ACAD9	Conflicting interpretations of pathogenicity	387906242	RCV000001073\|RCV000201519\|RCV001515971;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN169374\|MedGen:C3661900	3	128598490	128598491	3:g.128598490_128598491insTAAG	OMIM:611103.0001,ClinGen:CA114709	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val)	28976	ACAD9	Uncertain significance	886057954	RCV000324385;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598575	128598575	NC_000003.11:g.128598575C>T	ClinGen:CA10617263	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro)	28976	ACAD9	Uncertain significance	886057955	RCV000373076;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598578	128598578	NC_000003.11:g.128598578G>C	ClinGen:CA10617167	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)	28976	ACAD9	Uncertain significance	-1	RCV003139550;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598589	128598589	NC_000003.11:g.128598589G>T	-
NM_014049.5(ACAD9):c.75G>T (p.Ala25=)	28976	ACAD9	Likely benign	564435799	RCV001470621\|RCV001826300;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598609	128598609	128598609	-
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys)	28976	ACAD9	Uncertain significance	368630371	RCV000196665\|RCV001273322\|RCV002515375;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123	3	128598625	128598625	3:g.128598625C>T	ClinGen:CA321091	CN169374 not specified;
NM_014049.5(ACAD9):c.102G>T (p.Pro34=)	28976	ACAD9	Likely benign	750501970	RCV001499803\|RCV001826342;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598636	128598636	128598636	-
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu)	28976	ACAD9	Uncertain significance	780117832	RCV001151049;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128598640	128598640	3:g.128598640G>C	-
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)	28976	ACAD9	Uncertain significance	149931573	RCV000196533\|RCV000259644;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128603497	128603497	NC_000003.11:g.128603497A>T	ClinGen:CA320956	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)	28976	ACAD9	Conflicting interpretations of pathogenicity	144978857	RCV000319618\|RCV000960498;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128603540	128603540	NC_000003.11:g.128603540T>C	ClinGen:CA2601068	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.217C>A (p.Pro73Thr)	28976	ACAD9	Uncertain significance	557401373	RCV000200264\|RCV001828022;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128603562	128603562	3:g.128603562C>A	ClinGen:CA324820	CN169374 not specified;
NM_014049.5(ACAD9):c.220G>A (p.Val74Met)	28976	ACAD9	Uncertain significance	779258809	RCV001333003\|RCV002546608\|RCV002546609;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	3	128603565	128603565	128603565	-
NM_014049.5(ACAD9):c.244+3A>G	28976	ACAD9	Uncertain significance	-1	RCV003139553;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128603592	128603592	NC_000003.11:g.128603592A>G	-
NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln)	28976	ACAD9	Likely benign	573257268	RCV001473801\|RCV001826304;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612407	128612407	128612407	-
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)	28976	ACAD9	Conflicting interpretations of pathogenicity	761565265	RCV001151050\|RCV001474707;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128612437	128612437	3:g.128612437A>C	-
NM_014049.5(ACAD9):c.346+15del	28976	ACAD9	Uncertain significance	886057956	RCV000374233;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612514	128612514	NC_000003.11:g.128612514del	ClinGen:CA10615241	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.346+160G>C	28976	ACAD9	Benign	1680780	RCV000837490\|RCV001549199;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128612659	128612659	3:g.128612659G>C	-
NM_014049.5(ACAD9):c.347-20C>T	28976	ACAD9	Benign	1683791	RCV000152728\|RCV001543807\|RCV001682870;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128614133	128614133	3:g.128614133C>T	ClinGen:CA179703	CN169374 not specified;
NM_014049.5(ACAD9):c.366C>T (p.Asn122=)	28976	ACAD9	Conflicting interpretations of pathogenicity	1935539638	RCV001151051\|RCV001498110;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128614172	128614172	3:g.128614172C>T	-
NM_014049.5(ACAD9):c.379A>C (p.Arg127=)	28976	ACAD9	Benign	1680778	RCV000152729\|RCV000293617\|RCV000676683;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128614185	128614185	3:g.128614185A>C	ClinGen:CA179704	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg)	28976	ACAD9	Uncertain significance	1935540267	RCV001144951;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614189	128614189	3:g.128614189T>G	-
NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys)	28976	ACAD9	Uncertain significance	1935540558	RCV001279641;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614194	128614194	3:g.128614194G>A	-
NM_014049.5(ACAD9):c.432G>A (p.Ala144=)	28976	ACAD9	Likely benign	140225132	RCV000973781\|RCV001832216;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614238	128614238	3:g.128614238G>A	-
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val)	28976	ACAD9	Uncertain significance	202119704	RCV000196891\|RCV000329932;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614248	128614248	3:g.128614248A>G	ClinGen:CA321311	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg)	28976	ACAD9	Uncertain significance	774429198	RCV000999544\|RCV001169864;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614258	128614258	3:g.128614258A>G	-
NM_014049.5(ACAD9):c.453+2T>A	28976	ACAD9	Conflicting interpretations of pathogenicity	1179305061	RCV000778672;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614261	128614261	NC_000003.11:g.128614261T>A	-
NM_014049.5(ACAD9):c.453+8A>G	28976	ACAD9	Conflicting interpretations of pathogenicity	199919500	RCV000676685\|RCV001144952;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128614267	128614267	3:g.128614267A>G	-	CN517202 not provided;
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)	28976	ACAD9	Uncertain significance	145391132	RCV001333004\|RCV002546610\|RCV003169558;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	3	128615304	128615304	128615304	-
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)	28976	ACAD9	Conflicting interpretations of pathogenicity	762521317	RCV000412610\|RCV001557392\|RCV002469142;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202\|MedGen:CN169374	3	128615334	128615334	NC_000003.11:g.128615334C>T	ClinGen:CA2601173,OMIM:611103.0007	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.510G>A (p.Ala170=)	28976	ACAD9	Benign	187374592	RCV000895205\|RCV001825802;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128615335	128615335	3:g.128615335G>A	-
NM_014049.5(ACAD9):c.555-116C>G	28976	ACAD9	Benign	789213	RCV001543808\|RCV001713001;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128616359	128616359	128616359	-
NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg)	28976	ACAD9	Uncertain significance	781738719	RCV000389193\|RCV001785578;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128616475	128616475	NC_000003.11:g.128616475T>G	ClinGen:CA2601190	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.634-3C>T	28976	ACAD9	Uncertain significance	187282664	RCV001144953\|RCV002557101;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128618127	128618127	3:g.128618127C>T	-
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)	28976	ACAD9	Conflicting interpretations of pathogenicity	761452056	RCV000436426\|RCV001335614\|RCV002524843;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128618158	128618158	3:g.128618158A>G	ClinGen:CA2601241	CN169374 not specified;
NM_014049.5(ACAD9):c.665T>C (p.Ile222Thr)	28976	ACAD9	Uncertain significance	863223874	RCV000197020\|RCV001835720;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618161	128618161	3:g.128618161T>C	ClinGen:CA321453	CN169374 not specified;
NM_014049.5(ACAD9):c.693C>T (p.Val231=)	28976	ACAD9	Conflicting interpretations of pathogenicity	778831368	RCV000928624\|RCV001144954;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618189	128618189	3:g.128618189C>T	-
NM_014049.5(ACAD9):c.694G>A (p.Val232Ile)	28976	ACAD9	Likely benign	371417658	RCV001468887\|RCV001836412;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618190	128618190	128618190	-
NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp)	28976	ACAD9	Uncertain significance	1935665522	RCV001279642;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618251	128618251	3:g.128618251G>A	-
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys)	28976	ACAD9	Uncertain significance	199504238	RCV001144955\|RCV002557102;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128618274	128618274	3:g.128618274G>A	-
NM_014049.5(ACAD9):c.787T>C (p.Leu263=)	28976	ACAD9	Benign	1979529	RCV000123466\|RCV000294963\|RCV001522007;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128618283	128618283	3:g.128618283T>C	ClinGen:CA289239	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)	28976	ACAD9	Uncertain significance	-1	RCV003139551;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128618289	128618289	NC_000003.11:g.128618289A>G	-
NM_014049.5(ACAD9):c.808+63GT[14]	28976	ACAD9	Benign	63473460	RCV000987327\|RCV001655654;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128618367	128618378	3:g.128618367_128618378del	-
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg)	28976	ACAD9	Conflicting interpretations of pathogenicity	1018093316	RCV001942003\|RCV003464301;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128620178	128620178	128620178	-
NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)	28976	ACAD9	Uncertain significance	-1	RCV002288273\|RCV003097762;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128621411	128621411	128621411	-
NM_014049.5(ACAD9):c.906C>T (p.Ser302=)	28976	ACAD9	Conflicting interpretations of pathogenicity	551193020	RCV001146899\|RCV001442257;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128621419	128621419	3:g.128621419C>T	-
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser)	28976	ACAD9	Uncertain significance	143383023	RCV001146900\|RCV002557147;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128621420	128621420	3:g.128621420G>A	-
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)	28976	ACAD9	Conflicting interpretations of pathogenicity	139073821	RCV000344896\|RCV000416256\|RCV002282029;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MedGen:CN169374	3	128621441	128621441	3:g.128621441G>A	ClinGen:CA321041	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.959-6C>T	28976	ACAD9	Likely benign	368541873	RCV000913552\|RCV001275323;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622899	128622899	3:g.128622899C>T	-
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	28976	ACAD9	Conflicting interpretations of pathogenicity	115532916	RCV000023868\|RCV000198883\|RCV001582497;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609	3	128622922	128622922	3:g.128622922G>C	ClinGen:CA129519,OMIM:611103.0005	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)	28976	ACAD9	Conflicting interpretations of pathogenicity	115532916	RCV000123467\|RCV000395019\|RCV000676686;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128622922	128622922	3:g.128622922G>A	ClinGen:CA289241,UniProtKB:Q9H845#VAR_071899,ClinVar:424747	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser)	28976	ACAD9	Uncertain significance	115532916	RCV001335615;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622922	128622922	128622922	-
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)	28976	ACAD9	Benign/Likely benign	79530903	RCV000123468\|RCV000224779\|RCV001146901;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622934	128622934	3:g.128622934A>C	ClinGen:CA289243	CN517202 not provided;
NM_014049.5(ACAD9):c.1013A>C (p.Glu338Ala)	28976	ACAD9	Uncertain significance	760934225	RCV000197158\|RCV001828021;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622959	128622959	NC_000003.11:g.128622959A>C	ClinGen:CA321598	CN169374 not specified;
NM_014049.5(ACAD9):c.1020A>G (p.Gly340=)	28976	ACAD9	Likely benign	138401844	RCV001826257\|RCV001439475;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128622966	128622966	128622966	-
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)	28976	ACAD9	Conflicting interpretations of pathogenicity	141874052	RCV000199017\|RCV001146902;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622968	128622968	NC_000003.11:g.128622968T>C	ClinGen:CA323563	CN169374 not specified;
NM_014049.5(ACAD9):c.1029+10G>C	28976	ACAD9	Likely benign	377266080	RCV000909947\|RCV001275324;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128622985	128622985	3:g.128622985G>C	-
NM_014049.5(ACAD9):c.1030-1G>T	28976	ACAD9	Conflicting interpretations of pathogenicity	773586510	RCV000818731\|RCV002500831\|RCV002519816;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123	3	128623228	128623228	NC_000003.11:g.128623228G>T	ClinGen:CA353825,ClinVar:424744	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)	28976	ACAD9	Uncertain significance	-1	RCV003139554;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128623236	128623236	NC_000003.11:g.128623236T>G	-
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)	28976	ACAD9	Conflicting interpretations of pathogenicity	886057957	RCV000290979\|RCV000929050;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128623261	128623261	NC_000003.11:g.128623261C>T	ClinGen:CA10617170	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile)	28976	ACAD9	Uncertain significance	1266273831	RCV001147804;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128623262	128623262	3:g.128623262G>A	-
NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys)	28976	ACAD9	Uncertain significance	765411526	RCV000345951;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128623268	128623268	NC_000003.11:g.128623268G>A	ClinGen:CA2601394	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1150-84T>G	28976	ACAD9	Benign	1683777	RCV001543809\|RCV001707901;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128624880	128624880	128624880	-
NM_014049.5(ACAD9):c.1150-5C>T	28976	ACAD9	Conflicting interpretations of pathogenicity	1389811503	RCV001147805\|RCV001432879;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128624959	128624959	3:g.128624959C>T	-
NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys)	28976	ACAD9	Conflicting interpretations of pathogenicity	-1	RCV002594169\|RCV003314042;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624976	128624976	NC_000003.11:g.128624976G>A	-
NM_014049.5(ACAD9):c.1164G>A (p.Glu388=)	28976	ACAD9	Likely benign	372572429	RCV000940314\|RCV001275325;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128624978	128624978	3:g.128624978G>A	-
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val)	28976	ACAD9	Uncertain significance	768894091	RCV000390343\|RCV003243102;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123	3	128625004	128625004	NC_000003.11:g.128625004C>T	ClinGen:CA2601431	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=)	28976	ACAD9	Conflicting interpretations of pathogenicity	774763527	RCV001147806\|RCV002070795;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128625005	128625005	3:g.128625005G>A	-
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=)	28976	ACAD9	Conflicting interpretations of pathogenicity	139048558	RCV000968010\|RCV001147807;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625035	128625035	3:g.128625035A>G	ClinGen:CA2601435	CN169374 not specified;
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=)	28976	ACAD9	Likely benign	754767509	RCV000608159\|RCV001427810\|RCV002491265;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128625047	128625047	3:g.128625047G>A	ClinGen:CA2601439	CN169374 not specified;
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys)	28976	ACAD9	Uncertain significance	202147766	RCV000301704\|RCV002520077;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128625072	128625072	3:g.128625072C>T	ClinGen:CA2601445	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1279-76T>C	28976	ACAD9	Benign	1683786	RCV001597307\|RCV001549200;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128626952	128626952	128626952	-
NM_014049.5(ACAD9):c.1279-7A>G	28976	ACAD9	Benign	1683787	RCV000152730\|RCV000361183\|RCV000676688;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128627021	128627021	3:g.128627021A>G	ClinGen:CA179706	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)	28976	ACAD9	Conflicting interpretations of pathogenicity	781156571	RCV001753708\|RCV003401190\|RCV003469176;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627047	128627047	NC_000003.11:g.128627047G>A	ClinGen:CA353817,ClinVar:424748	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1309G>A (p.Ala437Thr)	28976	ACAD9	Uncertain significance	370266841	RCV000195577\|RCV001833142;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627058	128627058	3:g.128627058G>A	ClinGen:CA319930	CN517202 not provided;
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val)	28976	ACAD9	Uncertain significance	749932833	RCV001333001;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627061	128627061	128627061	-
NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr)	28976	ACAD9	Uncertain significance	753310622	RCV001149353;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627079	128627079	3:g.128627079G>A	-
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val)	28976	ACAD9	Benign/Likely benign	549861940	RCV000401356\|RCV000887732;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128627080	128627080	3:g.128627080C>T	ClinGen:CA2601502	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1332C>T (p.Ala444=)	28976	ACAD9	Likely benign	368597127	RCV000979494\|RCV001832271;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627081	128627081	3:g.128627081C>T	-
NM_014049.5(ACAD9):c.1358+152T>C	28976	ACAD9	Benign	13081342	RCV000839807\|RCV001543810;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627259	128627259	3:g.128627259T>C	-
NM_014049.5(ACAD9):c.1359-63T>C	28976	ACAD9	Benign	876754	RCV001549201\|RCV001685506;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128627753	128627753	128627753	-
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu)	28976	ACAD9	Uncertain significance	2107662601	RCV001559195;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627823	128627823	128627823	-
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)	28976	ACAD9	Conflicting interpretations of pathogenicity	772732061	RCV000298908\|RCV000976796;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128627855	128627855	3:g.128627855C>T	ClinGen:CA2601534	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile)	28976	ACAD9	Likely benign	369361055	RCV001279643\|RCV001396189;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128627856	128627856	3:g.128627856G>A	-
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)	28976	ACAD9	Conflicting interpretations of pathogenicity	139145143	RCV000488114\|RCV000764463\|RCV003155116;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN169374	3	128627862	128627862	3:g.128627862C>T	ClinGen:CA324526,UniProtKB:Q9H845#VAR_071903	CN517202 not provided;
NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln)	28976	ACAD9	Uncertain significance	762081272	RCV000353818;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627872	128627872	3:g.128627872G>A	ClinGen:CA2601539	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)	28976	ACAD9	Uncertain significance	-1	RCV003139552;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627886	128627886	NC_000003.11:g.128627886C>G	-
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln)	28976	ACAD9	Benign	4494951	RCV000123469\|RCV000263512\|RCV000676689;	N	MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128627887	128627887	3:g.128627887G>A	ClinGen:CA289245,UniProtKB:Q9H845#VAR_033459	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser)	28976	ACAD9	Uncertain significance	886057958	RCV000318670;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128627931	128627931	3:g.128627931C>T	ClinGen:CA10614825	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=)	28976	ACAD9	Benign	876755	RCV000368633\|RCV000676690;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128627933	128627933	3:g.128627933C>T	ClinGen:CA2601556	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser)	28976	ACAD9	Uncertain significance	369787602	RCV000274036\|RCV002520078;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128628197	128628197	3:g.128628197A>G	ClinGen:CA2601573	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser)	28976	ACAD9	Uncertain significance	141036010	RCV000197571\|RCV001145054;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628226	128628226	NC_000003.11:g.128628226G>A	ClinGen:CA322035	CN169374 not specified;
NM_014049.5(ACAD9):c.1533C>T (p.Thr511=)	28976	ACAD9	Likely benign	376637096	RCV000932005\|RCV001826955;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628234	128628234	3:g.128628234C>T	-
NM_014049.5(ACAD9):c.1551C>T (p.Leu517=)	28976	ACAD9	Likely benign	751618594	RCV000937434\|RCV001275326;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628252	128628252	3:g.128628252C>T	-
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	28976	ACAD9	Conflicting interpretations of pathogenicity	150283105	RCV000811609\|RCV001275866\|RCV002229799\|RCV003391001;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MONDO:MONDO:0100133,MedGen:C1838979, Orphanet:2609\|	3	128628253	128628253	NC_000003.11:g.128628253C>T	ClinGen:CA353821,ClinVar:424749,ClinVar:424750	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1596G>C (p.Arg532=)	28976	ACAD9	Likely benign	368130030	RCV000974699\|RCV001836042;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628896	128628896	3:g.128628896G>C	-
NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly)	28976	ACAD9	Uncertain significance	375541221	RCV001561333\|RCV001832765;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628934	128628934	128628934	-
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)	28976	ACAD9	Conflicting interpretations of pathogenicity	-1	RCV003076104\|RCV003225251;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628936	128628936	NC_000003.11:g.128628936G>A	-
NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	28976	ACAD9	Conflicting interpretations of pathogenicity	755346624	RCV001381042\|RCV002550259\|RCV003469657;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628940	128628941	128628940	-
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	28976	ACAD9	Conflicting interpretations of pathogenicity	750899715	RCV002043843\|RCV002282683\|RCV002486758;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628946	128628946	128628946	-
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)	28976	ACAD9	Conflicting interpretations of pathogenicity	559422558	RCV000333696\|RCV000945011;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128628950	128628950	3:g.128628950C>G	ClinGen:CA2601635	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His)	28976	ACAD9	Conflicting interpretations of pathogenicity	200134546	RCV001451629\|RCV001145055;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628964	128628964	3:g.128628964G>A	-
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser)	28976	ACAD9	Benign/Likely benign	138871762	RCV000388229\|RCV000910467;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128628975	128628975	3:g.128628975C>A	ClinGen:CA2601642	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1683C>T (p.His561=)	28976	ACAD9	Benign	141647117	RCV000123470\|RCV000954614\|RCV001275868;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128628983	128628983	3:g.128628983C>T	ClinGen:CA289247	CN169374 not specified;
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)	28976	ACAD9	Uncertain significance	547697115	RCV001279644\|RCV002509647\|RCV002537857;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN169374\|MedGen:CN517202	3	128628984	128628984	3:g.128628984G>A	-
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His)	28976	ACAD9	Uncertain significance	769529395	RCV001145056\|RCV001858950;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128629596	128629596	3:g.128629596A>C	-
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr)	28976	ACAD9	Conflicting interpretations of pathogenicity	778558550	RCV000198124\|RCV003137780;	N	MedGen:CN517202\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629606	128629606	3:g.128629606G>A	ClinGen:CA322611	CN517202 not provided;
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)	28976	ACAD9	Conflicting interpretations of pathogenicity	138264216	RCV001486207\|RCV001826317\|RCV002562705;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123	3	128629608	128629608	128629608	-
NM_001394090.1(CFAP92):c.3281-493A>G	28976	ACAD9	Uncertain significance	764208038	RCV000289665;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128629669	128629669	3:g.128629669T>C	ClinGen:CA10615242	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	28976	ACAD9	Conflicting interpretations of pathogenicity	917547961	RCV000756948\|RCV001830653;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631379	128631382	NC_000003.11:g.128631382_128631385del	-
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met)	28976	ACAD9	Conflicting interpretations of pathogenicity	149595527	RCV001407859\|RCV003136069;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631385	128631385	128631385	-
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	28976	ACAD9	Conflicting interpretations of pathogenicity	1057523761	RCV000418959\|RCV001147005\|RCV001584121;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN169374	3	128631416	128631416	3:g.128631416A>G	ClinGen:CA16604454	CN169374 not specified;
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	28976	ACAD9	Conflicting interpretations of pathogenicity	863224845	RCV001857785\|RCV002487095\|RCV002518404;	N	MedGen:C3661900\|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MeSH:D030342,MedGen:C0950123	3	128631430	128631430	NC_000003.11:g.128631430C>T	ClinVar:424761,ClinGen:CA353806	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3281-2300G>A	28976	ACAD9	Benign/Likely benign	373417322	RCV000325928\|RCV001590998;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128631476	128631476	3:g.128631476C>T	ClinGen:CA2601747	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3281-2305C>T	28976	ACAD9	Benign	9830739	RCV000385238\|RCV001672618;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128631481	128631481	3:g.128631481G>A	ClinGen:CA2601750	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3281-2342G>A	28976	ACAD9	Benign/Likely benign	116106966	RCV000290940\|RCV001672619;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128631518	128631518	3:g.128631518C>T	ClinGen:CA2601762	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3281-2366T>G	28976	ACAD9	Uncertain significance	367762859	RCV000340950;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631542	128631542	3:g.128631542A>C	ClinGen:CA2601769	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3280+2308G>A	28976	ACAD9	Uncertain significance	758867335	RCV001147006;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631654	128631654	3:g.128631654C>T	-
NM_001394090.1(CFAP92):c.3280+2291G>A	28976	ACAD9	Uncertain significance	189130789	RCV001147007;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631671	128631671	3:g.128631671C>T	-
NM_001394090.1(CFAP92):c.3280+2280TC[4]	28976	ACAD9	Benign/Likely benign	146518015	RCV000393252\|RCV001613130;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:CN517202	3	128631673	128631674	3:g.128631673_128631674del	ClinGen:CA2601799	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3280+2181A>C	28976	ACAD9	Benign/Likely benign	114763241	RCV000287321\|RCV001575930;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901\|MedGen:C3661900	3	128631781	128631781	3:g.128631781T>G	ClinGen:CA2601825	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_001394090.1(CFAP92):c.3280+2171G>A	28976	ACAD9	Uncertain significance	530217617	RCV001147895;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631791	128631791	3:g.128631791C>T	-
NM_001394090.1(CFAP92):c.3280+2013C>T	28976	ACAD9	Uncertain significance	765999383	RCV001147896;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631949	128631949	3:g.128631949G>A	-
NM_001394090.1(CFAP92):c.3280+2008C>T	28976	ACAD9	Uncertain significance	549991044	RCV000342284;	N	MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126, Orphanet:99901	3	128631954	128631954	3:g.128631954G>A	ClinGen:CA2601840	C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;