ACAD9 (acyl-CoA dehydrogenase family member 9) - Rat Genome Database

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Gene: ACAD9 (acyl-CoA dehydrogenase family member 9) Homo sapiens
Analyze
Symbol: ACAD9
Name: acyl-CoA dehydrogenase family member 9
RGD ID: 1348095
HGNC Page HGNC:21497
Description: Enables long-chain fatty acyl-CoA dehydrogenase activity and medium-chain fatty acyl-CoA dehydrogenase activity. Involved in long-chain fatty acid metabolic process; medium-chain fatty acid metabolic process; and mitochondrial respiratory chain complex I assembly. Located in dendrite; mitochondrial membrane; and nucleus. Implicated in nuclear type mitochondrial complex I deficiency 20.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAD-9; acyl-CoA dehydrogenase family member 9, mitochondrial; acyl-CoA dehydrogenase family, member 9; acyl-Coenzyme A dehydrogenase family, member 9; complex I assembly factor ACAD9, mitochondrial; FLJ23533; MC1DN20; MGC14452; NPD002; very-long-chain acyl-CoA dehydrogenase VLCAD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383128,879,620 - 128,913,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,879,596 - 128,924,003 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,598,463 - 128,631,957 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,081,144 - 130,114,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 343130,081,151 - 130,114,654NCBI
Celera3127,030,566 - 127,064,360 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,985,335 - 126,019,201 (+)NCBIHuRef
CHM1_13128,561,563 - 128,595,180 (+)NCBICHM1_1
T2T-CHM13v2.03131,624,340 - 131,657,836 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (EXP)
beta-carotene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furfural  (EXP)
glafenine  (ISO)
hydralazine  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
methapyrilene  (EXP,ISO)
methimazole  (ISO)
oleic acid  (EXP)
oxybenzone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phlorizin  (ISO)
pirinixic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sulfadimethoxine  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP,ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Acyl-CoA dehydrogenases. A mechanistic overview. Ghisla S and Thorpe C, Eur J Biochem. 2004 Feb;271(3):494-508.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11256614   PMID:12359260   PMID:12477932   PMID:12971426   PMID:14702039   PMID:15489334   PMID:16020546   PMID:16344560   PMID:16750164   PMID:17564966   PMID:17672918   PMID:18385088  
PMID:19615732   PMID:20186120   PMID:20816094   PMID:20877624   PMID:20929961   PMID:21057504   PMID:21237683   PMID:21873635   PMID:22277967   PMID:22939629   PMID:23064961   PMID:24158852  
PMID:24344204   PMID:25721401   PMID:25921289   PMID:26186194   PMID:26389662   PMID:26496610   PMID:26669660   PMID:26826406   PMID:27173435   PMID:27233227   PMID:27342126   PMID:27432908  
PMID:27499296   PMID:27637333   PMID:28330616   PMID:28380382   PMID:28514442   PMID:28533407   PMID:28675297   PMID:29229926   PMID:29348607   PMID:29395067   PMID:29478914   PMID:29507755  
PMID:29509190   PMID:29568061   PMID:30472188   PMID:30737378   PMID:30833792   PMID:30948266   PMID:31056398   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31108370   PMID:31240132  
PMID:31527615   PMID:31617661   PMID:31871319   PMID:32320651   PMID:32628020   PMID:32640226   PMID:32694731   PMID:32877691   PMID:33060197   PMID:33545068   PMID:33658012   PMID:33742100  
PMID:33753518   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34591612   PMID:34800366   PMID:35032548   PMID:35241646   PMID:35256949   PMID:35439318   PMID:35509820   PMID:35652658  
PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36774506   PMID:37071682   PMID:37223481   PMID:37314216   PMID:37388727   PMID:37616343   PMID:37827155  


Genomics

Comparative Map Data
ACAD9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383128,879,620 - 128,913,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3128,879,596 - 128,924,003 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,598,463 - 128,631,957 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,081,144 - 130,114,647 (+)NCBINCBI36Build 36hg18NCBI36
Build 343130,081,151 - 130,114,654NCBI
Celera3127,030,566 - 127,064,360 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3125,985,335 - 126,019,201 (+)NCBIHuRef
CHM1_13128,561,563 - 128,595,180 (+)NCBICHM1_1
T2T-CHM13v2.03131,624,340 - 131,657,836 (+)NCBIT2T-CHM13v2.0
Acad9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39336,120,128 - 36,147,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl336,120,128 - 36,147,002 (+)EnsemblGRCm39 Ensembl
GRCm38336,065,979 - 36,092,857 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl336,065,979 - 36,092,853 (+)EnsemblGRCm38mm10GRCm38
MGSCv37335,964,922 - 35,991,779 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36336,257,613 - 36,284,394 (+)NCBIMGSCv36mm8
Celera335,948,569 - 35,975,311 (+)NCBICelera
Cytogenetic Map3BNCBI
cM Map317.41NCBI
Acad9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82120,871,329 - 120,894,306 (+)NCBIGRCr8
mRatBN7.22118,943,170 - 118,966,150 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2118,943,174 - 118,966,547 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2125,496,076 - 125,519,023 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02123,608,759 - 123,631,706 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02118,237,531 - 118,260,478 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02122,782,051 - 122,806,166 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2122,782,060 - 122,805,768 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02142,407,910 - 142,432,025 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42122,562,974 - 122,585,953 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12122,528,005 - 122,531,312 (+)NCBI
Celera2113,903,986 - 113,926,961 (+)NCBICelera
Cytogenetic Map2q25NCBI
Acad9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545010,576,615 - 10,603,779 (-)NCBIChiLan1.0ChiLan1.0
ACAD9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22126,813,609 - 126,847,252 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13126,818,332 - 126,854,947 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03125,941,278 - 125,974,847 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,298,753 - 133,331,883 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3133,298,753 - 133,331,883 (+)Ensemblpanpan1.1panPan2
ACAD9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1203,155,754 - 3,205,307 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl203,021,167 - 3,205,279 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha203,195,168 - 3,244,737 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0203,177,085 - 3,226,674 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl203,177,088 - 3,226,691 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1202,918,262 - 2,945,974 (-)NCBIUMICH_Zoey_3.1
UMICH_Zoey_3.1202,896,688 - 2,903,181 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,218,821 - 3,268,252 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0203,183,441 - 3,233,049 (-)NCBIUU_Cfam_GSD_1.0
Acad9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494220,042,088 - 20,064,512 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493679890,584 - 106,041 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493679883,952 - 106,381 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACAD9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,374,944 - 71,427,126 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,374,926 - 71,422,431 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,004,147 - 79,018,705 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACAD9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,143,869 - 52,166,123 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2252,144,454 - 52,169,365 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,184,550 - 114,221,588 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acad9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247817,683,025 - 7,717,427 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACAD9
910 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003470662]|not provided [RCV000520040] Chr3:128912566 [GRCh38]
Chr3:128631409 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1359-63T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001549201]|not provided [RCV001685506] Chr3:128908910 [GRCh38]
Chr3:128627753 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000023865]|Mitochondrial complex I deficiency [RCV003234917]|not provided [RCV001852030] Chr3:128906220 [GRCh38]
Chr3:128625063 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000023866] Chr3:128879821 [GRCh38]
Chr3:128598664 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000023867]|not provided [RCV001857363] Chr3:128899450 [GRCh38]
Chr3:128618293 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000023868]|Mitochondrial complex I deficiency [RCV001582497]|not provided [RCV000198883] Chr3:128904079 [GRCh38]
Chr3:128622922 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000023869]|Mitochondrial complex I deficiency [RCV001844016]|not provided [RCV000200123] Chr3:128910051 [GRCh38]
Chr3:128628894 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.-44_-41dup duplication Acyl-CoA dehydrogenase 9 deficiency [RCV000001073]|not provided [RCV001515971]|not specified [RCV000201519] Chr3:128879647..128879648 [GRCh38]
Chr3:128598490..128598491 [GRCh37]
Chr3:3q21.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3 copy number gain See cases [RCV000050795] Chr3:128601065..129182579 [GRCh38]
Chr3:128319908..128901422 [GRCh37]
Chr3:129802598..130384112 [NCBI36]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3 copy number gain See cases [RCV000051532] Chr3:128735053..128967179 [GRCh38]
Chr3:128453896..128686022 [GRCh37]
Chr3:129936586..130168712 [NCBI36]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.554+20G>A single nucleotide variant not provided [RCV002055389]|not specified [RCV000123465] Chr3:128896556 [GRCh38]
Chr3:128615399 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.787T>C (p.Leu263=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000294963]|not provided [RCV001522007]|not specified [RCV000123466] Chr3:128899440 [GRCh38]
Chr3:128618283 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000395019]|not provided [RCV000676686]|not specified [RCV000123467] Chr3:128904079 [GRCh38]
Chr3:128622922 [GRCh37]
Chr3:3q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) single nucleotide variant ACAD9-related disorder [RCV003915228]|Acyl-CoA dehydrogenase 9 deficiency [RCV001146901]|not provided [RCV000224779]|not specified [RCV000123468] Chr3:128904091 [GRCh38]
Chr3:128622934 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000263512]|not provided [RCV000676689]|not specified [RCV000123469] Chr3:128909044 [GRCh38]
Chr3:128627887 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.1683C>T (p.His561=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275868]|not provided [RCV000954614]|not specified [RCV000123470] Chr3:128910140 [GRCh38]
Chr3:128628983 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001169864]|not provided [RCV000999544] Chr3:128895415 [GRCh38]
Chr3:128614258 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1 copy number loss See cases [RCV000137444] Chr3:126797420..128946623 [GRCh38]
Chr3:126516263..128665466 [GRCh37]
Chr3:127998953..130148156 [NCBI36]
Chr3:3q21.3		 pathogenic|uncertain significance
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
NM_014049.5(ACAD9):c.347-20C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001543807]|not provided [RCV001682870]|not specified [RCV000152728] Chr3:128895290 [GRCh38]
Chr3:128614133 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) single nucleotide variant ACAD9-related disorder [RCV003975193]|Acyl-CoA dehydrogenase 9 deficiency [RCV000293617]|not provided [RCV000676683]|not specified [RCV000152729] Chr3:128895342 [GRCh38]
Chr3:128614185 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1279-7A>G single nucleotide variant ACAD9-related disorder [RCV003975194]|Acyl-CoA dehydrogenase 9 deficiency [RCV000361183]|not provided [RCV000676688]|not specified [RCV000152730] Chr3:128908178 [GRCh38]
Chr3:128627021 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.244+52G>A single nucleotide variant not provided [RCV001575739] Chr3:128884798 [GRCh38]
Chr3:128603641 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.217C>A (p.Pro73Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001828022]|not provided [RCV000200264] Chr3:128884719 [GRCh38]
Chr3:128603562 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000259644]|not provided [RCV000196533] Chr3:128884654 [GRCh38]
Chr3:128603497 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) single nucleotide variant ACAD9-related disorder [RCV003907727]|Acyl-CoA dehydrogenase 9 deficiency [RCV000344896]|not provided [RCV000416256]|not specified [RCV002282029] Chr3:128902598 [GRCh38]
Chr3:128621441 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001273322]|Inborn genetic diseases [RCV002515375]|not provided [RCV000196665] Chr3:128879782 [GRCh38]
Chr3:128598625 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.11G>T (p.Cys4Phe) single nucleotide variant not specified [RCV000200488] Chr3:128879702 [GRCh38]
Chr3:128598545 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe) single nucleotide variant not provided [RCV000200617]|not specified [RCV002469056] Chr3:128896520 [GRCh38]
Chr3:128615363 [GRCh37]
Chr3:3q21.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val) single nucleotide variant Inborn genetic diseases [RCV002517191]|not provided [RCV001462169] Chr3:128910123 [GRCh38]
Chr3:128628966 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000329932]|not provided [RCV000196891] Chr3:128895405 [GRCh38]
Chr3:128614248 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.4(ACAD9):c.987G>C (p.Arg329Ser) single nucleotide variant not provided [RCV000200760] Chr3:128904090 [GRCh38]
Chr3:128622933 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.665T>C (p.Ile222Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001835720]|not provided [RCV000197020] Chr3:128899318 [GRCh38]
Chr3:128618161 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1013A>C (p.Glu338Ala) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001828021]|not provided [RCV000197158] Chr3:128904116 [GRCh38]
Chr3:128622959 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001145054]|See cases [RCV004584210]|not provided [RCV000197571] Chr3:128909383 [GRCh38]
Chr3:128628226 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.1283C>T (p.Thr428Ile) single nucleotide variant not specified [RCV004700006] Chr3:128908189 [GRCh38]
Chr3:128627032 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003137780]|not provided [RCV000198124] Chr3:128910763 [GRCh38]
Chr3:128629606 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.4(ACAD9):c.175G>T (p.Val59Phe) single nucleotide variant not specified [RCV000198397] Chr3:128884677 [GRCh38]
Chr3:128603520 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.931G>A (p.Val311Met) single nucleotide variant Inborn genetic diseases [RCV004020384]|not provided [RCV001424728]|not specified [RCV000198480] Chr3:128902601 [GRCh38]
Chr3:128621444 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1667T>C (p.Ile556Thr) single nucleotide variant Inborn genetic diseases [RCV004020385]|not provided [RCV001447103]|not specified [RCV000198616] Chr3:128910124 [GRCh38]
Chr3:128628967 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.4(ACAD9):c.497T>G (p.Leu166Trp) single nucleotide variant not provided [RCV000198768] Chr3:128896479 [GRCh38]
Chr3:128615322 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.4(ACAD9):c.1253A>G (p.Asp418Gly) single nucleotide variant not provided [RCV000195437] Chr3:128906224 [GRCh38]
Chr3:128625067 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) single nucleotide variant ACAD9-related disorder [RCV003907728]|Acyl-CoA dehydrogenase 9 deficiency [RCV001146902]|not provided [RCV000199017] Chr3:128904125 [GRCh38]
Chr3:128622968 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1309G>A (p.Ala437Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001833142]|not provided [RCV000195577] Chr3:128908215 [GRCh38]
Chr3:128627058 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.4(ACAD9):c.1306A>G (p.Ile436Val) single nucleotide variant not specified [RCV000199150] Chr3:128908212 [GRCh38]
Chr3:128627055 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1223G>C (p.Arg408Thr) single nucleotide variant not specified [RCV000199668] Chr3:128906194 [GRCh38]
Chr3:128625037 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1414C>T (p.Arg472Trp) single nucleotide variant not provided [RCV000196402] Chr3:128909028 [GRCh38]
Chr3:128627871 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000764463]|not provided [RCV000488114]|not specified [RCV003155116] Chr3:128909019 [GRCh38]
Chr3:128627862 [GRCh37]
Chr3:3q21.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001782730]|Mitochondrial complex I deficiency [RCV002282084]|not provided [RCV000756947] Chr3:128906208 [GRCh38]
Chr3:128625051 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV001830653]|not provided [RCV000756948] Chr3:128912536..128912539 [GRCh38]
Chr3:128631379..128631382 [GRCh37]
Chr3:3q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000274036]|not provided [RCV002520078] Chr3:128909354 [GRCh38]
Chr3:128628197 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1279-76T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001549200]|not provided [RCV001597307] Chr3:128908109 [GRCh38]
Chr3:128626952 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.4(ACAD9):c.-91G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000272903] Chr3:128879601 [GRCh38]
Chr3:128598444 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) single nucleotide variant ACAD9-related disorder [RCV003950203]|Acyl-CoA dehydrogenase 9 deficiency [RCV000298908]|not provided [RCV000976796] Chr3:128909012 [GRCh38]
Chr3:128627855 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) single nucleotide variant ACAD9-related disorder [RCV003950204]|Acyl-CoA dehydrogenase 9 deficiency [RCV000333696]|not provided [RCV000945011] Chr3:128910107 [GRCh38]
Chr3:128628950 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000353818] Chr3:128909029 [GRCh38]
Chr3:128627872 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000301704]|not provided [RCV002520077] Chr3:128906229 [GRCh38]
Chr3:128625072 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val) single nucleotide variant ACAD9-related disorder [RCV003932386]|Acyl-CoA dehydrogenase 9 deficiency [RCV000401356]|not provided [RCV000887732] Chr3:128908237 [GRCh38]
Chr3:128627080 [GRCh37]
Chr3:3q21.3		 benign|likely benign|uncertain significance
NM_014049.5(ACAD9):c.*331T>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000287321]|not provided [RCV001575930] Chr3:128912938 [GRCh38]
Chr3:128631781 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000319618]|not provided [RCV000960498] Chr3:128884697 [GRCh38]
Chr3:128603540 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.-65GT[4] microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV000359314]|not provided [RCV000832746] Chr3:128879627..128879628 [GRCh38]
Chr3:128598470..128598471 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1765+13T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000289665] Chr3:128910826 [GRCh38]
Chr3:128629669 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.*68C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000290940]|not provided [RCV001672619] Chr3:128912675 [GRCh38]
Chr3:128631518 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.*92A>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000340950] Chr3:128912699 [GRCh38]
Chr3:128631542 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.*31G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000385238]|not provided [RCV001672618] Chr3:128912638 [GRCh38]
Chr3:128631481 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.*504G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000342284] Chr3:128913111 [GRCh38]
Chr3:128631954 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.4(ACAD9):c.-168T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000362471]|not provided [RCV001545212] Chr3:128879524 [GRCh38]
Chr3:128598367 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.*26C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000325928]|not provided [RCV001590998] Chr3:128912633 [GRCh38]
Chr3:128631476 [GRCh37]
Chr3:3q21.3		 benign|likely benign|uncertain significance
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000388229]|not provided [RCV000910467] Chr3:128910132 [GRCh38]
Chr3:128628975 [GRCh37]
Chr3:3q21.3		 benign|likely benign|uncertain significance
NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000389193]|not provided [RCV001785578] Chr3:128897632 [GRCh38]
Chr3:128616475 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000345951] Chr3:128904425 [GRCh38]
Chr3:128623268 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000390343]|Inborn genetic diseases [RCV003243102] Chr3:128906161 [GRCh38]
Chr3:128625004 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000368633]|not provided [RCV000676690] Chr3:128909090 [GRCh38]
Chr3:128627933 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1692+122G>C single nucleotide variant not provided [RCV001546785] Chr3:128910271 [GRCh38]
Chr3:128629114 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.569C>T (p.Ala190Val) single nucleotide variant not provided [RCV000487820] Chr3:128897646 [GRCh38]
Chr3:128616489 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001279643]|Inborn genetic diseases [RCV004035493]|not provided [RCV001396189] Chr3:128909013 [GRCh38]
Chr3:128627856 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000318670] Chr3:128909088 [GRCh38]
Chr3:128627931 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.-65GT[6] microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV000309266] Chr3:128879626..128879627 [GRCh38]
Chr3:128598469..128598470 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000324385] Chr3:128879732 [GRCh38]
Chr3:128598575 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000373076] Chr3:128879735 [GRCh38]
Chr3:128598578 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.346+15del deletion Acyl-CoA dehydrogenase 9 deficiency [RCV000374233]|not provided [RCV003765981] Chr3:128893671 [GRCh38]
Chr3:128612514 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.*223GA[4] microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV000393252]|not provided [RCV001613130] Chr3:128912830..128912831 [GRCh38]
Chr3:128631673..128631674 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000290979]|not provided [RCV000929050] Chr3:128904418 [GRCh38]
Chr3:128623261 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.682_688delinsCAGTAAAACATC (p.Lys228_Glu230delinsGlnTer) indel not provided [RCV000627651] Chr3:128899335..128899341 [GRCh38]
Chr3:128618178..128618184 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1484C>T (p.Ala495Val) single nucleotide variant not provided [RCV000593392] Chr3:128909098 [GRCh38]
Chr3:128627941 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.809-10T>C single nucleotide variant not specified [RCV000604647] Chr3:128901266 [GRCh38]
Chr3:128620109 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1687C>G (p.His563Asp) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000412667] Chr3:128910144 [GRCh38]
Chr3:128628987 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.514G>A (p.Gly172Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275864]|not provided [RCV000413407] Chr3:128896496 [GRCh38]
Chr3:128615339 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000412610]|not provided [RCV001557392]|not specified [RCV002469142] Chr3:128896491 [GRCh38]
Chr3:128615334 [GRCh37]
Chr3:3q21.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.634-5C>T single nucleotide variant not provided [RCV000977267]|not specified [RCV000427233] Chr3:128899282 [GRCh38]
Chr3:128618125 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+18G>A single nucleotide variant not provided [RCV002521720]|not specified [RCV000434276] Chr3:128899479 [GRCh38]
Chr3:128618322 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=) single nucleotide variant ACAD9-related disorder [RCV003932552]|Acyl-CoA dehydrogenase 9 deficiency [RCV001147807]|not provided [RCV000968010] Chr3:128906192 [GRCh38]
Chr3:128625035 [GRCh37]
Chr3:3q21.3		 benign|likely benign|uncertain significance
NM_014049.5(ACAD9):c.454-19C>A single nucleotide variant not provided [RCV002061325]|not specified [RCV000428303] Chr3:128896417 [GRCh38]
Chr3:128615260 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.*18C>G single nucleotide variant not specified [RCV000418830] Chr3:128912625 [GRCh38]
Chr3:128631468 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147005]|not provided [RCV000418959]|not specified [RCV001584121] Chr3:128912573 [GRCh38]
Chr3:128631416 [GRCh37]
Chr3:3q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.675G>A (p.Val225=) single nucleotide variant not provided [RCV000897542]|not specified [RCV000419511] Chr3:128899328 [GRCh38]
Chr3:128618171 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.933G>T (p.Val311=) single nucleotide variant ACAD9-related disorder [RCV003942356]|not provided [RCV000983280]|not specified [RCV000432721] Chr3:128902603 [GRCh38]
Chr3:128621446 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+8G>A single nucleotide variant not provided [RCV001458813]|not specified [RCV000425792] Chr3:128879849 [GRCh38]
Chr3:128598692 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001335614]|not provided [RCV002524843]|not specified [RCV000436426] Chr3:128899315 [GRCh38]
Chr3:128618158 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.30C>T (p.Thr10=) single nucleotide variant not provided [RCV000887659] Chr3:128879721 [GRCh38]
Chr3:128598564 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.*8G>A single nucleotide variant not specified [RCV000443956] Chr3:128912615 [GRCh38]
Chr3:128631458 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+20G>A single nucleotide variant not provided [RCV002062420]|not specified [RCV000444531] Chr3:128899481 [GRCh38]
Chr3:128618324 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.454-20T>C single nucleotide variant not provided [RCV001698333] Chr3:128896416 [GRCh38]
Chr3:128615259 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.930C>T (p.Val310=) single nucleotide variant not provided [RCV002059972]|not specified [RCV000441189] Chr3:128902600 [GRCh38]
Chr3:128621443 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275865]|not provided [RCV000480130] Chr3:128906211 [GRCh38]
Chr3:128625054 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1693-2A>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001834604]|not provided [RCV000498952] Chr3:128910739 [GRCh38]
Chr3:128629582 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1030-1G>A single nucleotide variant not provided [RCV000498001] Chr3:128904385 [GRCh38]
Chr3:128623228 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1134G>A (p.Glu378=) single nucleotide variant not provided [RCV000602876] Chr3:128904490 [GRCh38]
Chr3:128623333 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1781T>C (p.Leu594Pro) single nucleotide variant Inborn genetic diseases [RCV003256178] Chr3:128912522 [GRCh38]
Chr3:128631365 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1059T>G (p.Ala353=) single nucleotide variant not specified [RCV000607184] Chr3:128904415 [GRCh38]
Chr3:128623258 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014049.5(ACAD9):c.513C>T (p.Ser171=) single nucleotide variant ACAD9-related disorder [RCV003927963]|not provided [RCV000918795] Chr3:128896495 [GRCh38]
Chr3:128615338 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+9C>G single nucleotide variant not provided [RCV000884841]|not specified [RCV000615306] Chr3:128906258 [GRCh38]
Chr3:128625101 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1716C>T (p.Cys572=) single nucleotide variant ACAD9-related disorder [RCV003945534]|not provided [RCV000923462] Chr3:128910764 [GRCh38]
Chr3:128629607 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+8C>G single nucleotide variant not provided [RCV000907227]|not specified [RCV000610116] Chr3:128910157 [GRCh38]
Chr3:128629000 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002491265]|not provided [RCV001427810]|not specified [RCV000608159] Chr3:128906204 [GRCh38]
Chr3:128625047 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.-11C>T single nucleotide variant not specified [RCV000611275] Chr3:128879681 [GRCh38]
Chr3:128598524 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-3C>G single nucleotide variant Mitochondrial complex I deficiency [RCV000625777] Chr3:128904059 [GRCh38]
Chr3:128622902 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014049.5(ACAD9):c.347-7C>T single nucleotide variant not provided [RCV003767678]|not specified [RCV000606376] Chr3:128895303 [GRCh38]
Chr3:128614146 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+5C>A single nucleotide variant Inborn genetic diseases [RCV002544681]|not provided [RCV000676687]|not specified [RCV003155280] Chr3:128904510 [GRCh38]
Chr3:128623353 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.422C>T (p.Thr141Ile) single nucleotide variant Inborn genetic diseases [RCV002532175]|not provided [RCV000676684] Chr3:128895385 [GRCh38]
Chr3:128614228 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.453+8A>G single nucleotide variant ACAD9-related disorder [RCV003938027]|Acyl-CoA dehydrogenase 9 deficiency [RCV001144952]|not provided [RCV000676685] Chr3:128895424 [GRCh38]
Chr3:128614267 [GRCh37]
Chr3:3q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.151-1_151del deletion Acyl-CoA dehydrogenase 9 deficiency [RCV001275863]|Mitochondrial complex I deficiency [RCV002282438]|not provided [RCV001052315] Chr3:128884651..128884652 [GRCh38]
Chr3:128603494..128603495 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001559195] Chr3:128908980 [GRCh38]
Chr3:128627823 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014049.5(ACAD9):c.1278+89G>A single nucleotide variant not provided [RCV001539751] Chr3:128906338 [GRCh38]
Chr3:128625181 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_014049.5(ACAD9):c.1332C>T (p.Ala444=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001832271]|not provided [RCV000979494] Chr3:128908238 [GRCh38]
Chr3:128627081 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-145G>T single nucleotide variant not provided [RCV001679550] Chr3:128903917 [GRCh38]
Chr3:128622760 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.958+169G>A single nucleotide variant not provided [RCV001575228] Chr3:128902797 [GRCh38]
Chr3:128621640 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+237G>C single nucleotide variant not provided [RCV001611367] Chr3:128909658 [GRCh38]
Chr3:128628501 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.906C>T (p.Ser302=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001146899]|not provided [RCV001442257] Chr3:128902576 [GRCh38]
Chr3:128621419 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1414C>A (p.Arg472=) single nucleotide variant not provided [RCV000944583] Chr3:128909028 [GRCh38]
Chr3:128627871 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1308C>T (p.Ile436=) single nucleotide variant ACAD9-related disorder [RCV003943289]|not provided [RCV000983208] Chr3:128908214 [GRCh38]
Chr3:128627057 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-7T>C single nucleotide variant not provided [RCV000944297] Chr3:128908966 [GRCh38]
Chr3:128627809 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1553G>A (p.Arg518His) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275867]|not provided [RCV001064710] Chr3:128909411 [GRCh38]
Chr3:128628254 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.359del (p.Phe120fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV000779382]|Mitochondrial complex I deficiency [RCV002282085]|not provided [RCV000813209] Chr3:128895321 [GRCh38]
Chr3:128614164 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.453+2T>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV000778672]|not provided [RCV003669170] Chr3:128895418 [GRCh38]
Chr3:128614261 [GRCh37]
Chr3:3q21.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1752T>C (p.Ser584=) single nucleotide variant not provided [RCV000923557] Chr3:128910800 [GRCh38]
Chr3:128629643 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.15G>T (p.Gly5=) single nucleotide variant not provided [RCV000898382] Chr3:128879706 [GRCh38]
Chr3:128598549 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.975C>T (p.Tyr325=) single nucleotide variant ACAD9-related disorder [RCV003913175]|not provided [RCV000938366] Chr3:128904078 [GRCh38]
Chr3:128622921 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1671G>A (p.Gly557=) single nucleotide variant not provided [RCV000916979] Chr3:128910128 [GRCh38]
Chr3:128628971 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1224G>A (p.Arg408=) single nucleotide variant not provided [RCV000936623] Chr3:128906195 [GRCh38]
Chr3:128625038 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1164G>A (p.Glu388=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275325]|not provided [RCV000940314] Chr3:128906135 [GRCh38]
Chr3:128624978 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1551C>T (p.Leu517=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275326]|not provided [RCV000937434] Chr3:128909409 [GRCh38]
Chr3:128628252 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.510G>A (p.Ala170=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001825802]|not provided [RCV000895205] Chr3:128896492 [GRCh38]
Chr3:128615335 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.347-9C>T single nucleotide variant not provided [RCV000944293] Chr3:128895301 [GRCh38]
Chr3:128614144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.693C>T (p.Val231=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001144954]|not provided [RCV000928624] Chr3:128899346 [GRCh38]
Chr3:128618189 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.347-149G>A single nucleotide variant not provided [RCV000835585] Chr3:128895161 [GRCh38]
Chr3:128614004 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1278+226C>T single nucleotide variant not provided [RCV000837494] Chr3:128906475 [GRCh38]
Chr3:128625318 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1359-193G>A single nucleotide variant not provided [RCV000837495] Chr3:128908780 [GRCh38]
Chr3:128627623 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.346+63A>G single nucleotide variant not provided [RCV000836000] Chr3:128893719 [GRCh38]
Chr3:128612562 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1278+107G>A single nucleotide variant not provided [RCV000836001] Chr3:128906356 [GRCh38]
Chr3:128625199 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1564-55A>G single nucleotide variant not provided [RCV000836002] Chr3:128909966 [GRCh38]
Chr3:128628809 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1692+145G>C single nucleotide variant not provided [RCV000836003] Chr3:128910294 [GRCh38]
Chr3:128629137 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.633+199G>A single nucleotide variant not provided [RCV000839804] Chr3:128897909 [GRCh38]
Chr3:128616752 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.959-163G>A single nucleotide variant not provided [RCV000839805] Chr3:128903899 [GRCh38]
Chr3:128622742 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1278+150C>T single nucleotide variant not provided [RCV000839806] Chr3:128906399 [GRCh38]
Chr3:128625242 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1358+152T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001543810]|not provided [RCV000839807] Chr3:128908416 [GRCh38]
Chr3:128627259 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.150+87C>T single nucleotide variant not provided [RCV000836185] Chr3:128879928 [GRCh38]
Chr3:128598771 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.245-285A>C single nucleotide variant not provided [RCV000842873] Chr3:128893270 [GRCh38]
Chr3:128612113 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.346+331C>A single nucleotide variant not provided [RCV000842874] Chr3:128893987 [GRCh38]
Chr3:128612830 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.453+305_453+307dup duplication not provided [RCV000832850] Chr3:128895720..128895721 [GRCh38]
Chr3:128614563..128614564 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1692+124G>A single nucleotide variant not provided [RCV000834856] Chr3:128910273 [GRCh38]
Chr3:128629116 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1644G>T (p.Ser548=) single nucleotide variant not provided [RCV000976481] Chr3:128910101 [GRCh38]
Chr3:128628944 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+129T>G single nucleotide variant not provided [RCV000833907] Chr3:128909550 [GRCh38]
Chr3:128628393 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.883-33A>G single nucleotide variant not provided [RCV000830909] Chr3:128902520 [GRCh38]
Chr3:128621363 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1485+57T>C single nucleotide variant not provided [RCV000830910] Chr3:128909156 [GRCh38]
Chr3:128627999 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV000791055] Chr3:128908249..128908250 [GRCh38]
Chr3:128627092..128627093 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.959-300G>A single nucleotide variant not provided [RCV000842878] Chr3:128903762 [GRCh38]
Chr3:128622605 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1693-252G>A single nucleotide variant not provided [RCV000842885] Chr3:128910489 [GRCh38]
Chr3:128629332 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147806]|not provided [RCV002070795] Chr3:128906162 [GRCh38]
Chr3:128625005 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001149353] Chr3:128908236 [GRCh38]
Chr3:128627079 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128514201)_(128631967_?)dup duplication Charcot-Marie-Tooth disease type 2B [RCV000823262] Chr3:128795358..128913124 [GRCh38]
Chr3:128514201..128631967 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.366C>T (p.Asn122=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001151051]|not provided [RCV001498110] Chr3:128895329 [GRCh38]
Chr3:128614172 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV002497421]|not provided [RCV001054855] Chr3:128879697..128879722 [GRCh38]
Chr3:128598540..128598565 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.*221C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147007] Chr3:128912828 [GRCh38]
Chr3:128631671 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1818T>G (p.Leu606=) single nucleotide variant not provided [RCV000981062] Chr3:128912559 [GRCh38]
Chr3:128631402 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+160G>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001549199]|not provided [RCV000837490] Chr3:128893816 [GRCh38]
Chr3:128612659 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.882+196T>C single nucleotide variant not provided [RCV000837491] Chr3:128901545 [GRCh38]
Chr3:128620388 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.882+198A>G single nucleotide variant not provided [RCV000837492] Chr3:128901547 [GRCh38]
Chr3:128620390 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1150-192T>C single nucleotide variant not provided [RCV000837493] Chr3:128905929 [GRCh38]
Chr3:128624772 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.454-5T>C single nucleotide variant not provided [RCV000840977] Chr3:128896431 [GRCh38]
Chr3:128615274 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) single nucleotide variant ACAD9-related disorder [RCV003391001]|Acyl-CoA dehydrogenase 9 deficiency [RCV001275866]|Mitochondrial complex I deficiency [RCV002229799]|not provided [RCV000811609] Chr3:128909410 [GRCh38]
Chr3:128628253 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014049.5(ACAD9):c.1030-1G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002500831]|Inborn genetic diseases [RCV002519816]|not provided [RCV000818731] Chr3:128904385 [GRCh38]
Chr3:128623228 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.1692+285C>T single nucleotide variant not provided [RCV000831854] Chr3:128910434 [GRCh38]
Chr3:128629277 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.245-311_245-309del deletion not provided [RCV000828776] Chr3:128893243..128893245 [GRCh38]
Chr3:128612086..128612088 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1765+7G>A single nucleotide variant not provided [RCV000977067] Chr3:128910820 [GRCh38]
Chr3:128629663 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.*204C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147006] Chr3:128912811 [GRCh38]
Chr3:128631654 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128480999)_(128912627_?)del deletion Deafness-lymphedema-leukemia syndrome [RCV001032428] Chr3:128199842..128631470 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1109del (p.Pro370fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV001007945] Chr3:128904464 [GRCh38]
Chr3:128623307 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.808+63GT[14] microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV000987327]|not provided [RCV001655654] Chr3:128899524..128899535 [GRCh38]
Chr3:128618367..128618378 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.634-3C>T single nucleotide variant ACAD9-related disorder [RCV003898140]|Acyl-CoA dehydrogenase 9 deficiency [RCV001144953]|not provided [RCV002557101] Chr3:128899284 [GRCh38]
Chr3:128618127 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1564-6_1569del deletion not provided [RCV001234538] Chr3:128910015..128910026 [GRCh38]
Chr3:128628858..128628869 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1359-45_1383del deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003469393]|not provided [RCV001224626] Chr3:128908921..128908990 [GRCh38]
Chr3:128627764..128627833 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1173G>A (p.Trp391Ter) single nucleotide variant not provided [RCV001219417] Chr3:128906144 [GRCh38]
Chr3:128624987 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001146900]|not provided [RCV002557147] Chr3:128902577 [GRCh38]
Chr3:128621420 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147804] Chr3:128904419 [GRCh38]
Chr3:128623262 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.427G>A (p.Ala143Thr) single nucleotide variant not provided [RCV003235919] Chr3:128895390 [GRCh38]
Chr3:128614233 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002501999]|not provided [RCV001664971] Chr3:128906139 [GRCh38]
Chr3:128624982 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.151-250A>C single nucleotide variant not provided [RCV001564708] Chr3:128884403 [GRCh38]
Chr3:128603246 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+237T>A single nucleotide variant not provided [RCV001569505] Chr3:128911050 [GRCh38]
Chr3:128629893 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1336C>T (p.Arg446Cys) single nucleotide variant not provided [RCV001570892] Chr3:128908242 [GRCh38]
Chr3:128627085 [GRCh37]
Chr3:3q21.3		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NC_000003.12:g.128879367C>A single nucleotide variant not provided [RCV001555638] Chr3:128879367 [GRCh38]
Chr3:128598210 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+63GT[19] microsatellite not provided [RCV001695717] Chr3:128899524..128899525 [GRCh38]
Chr3:128618367..128618368 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1358+204G>C single nucleotide variant not provided [RCV001659096] Chr3:128908468 [GRCh38]
Chr3:128627311 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.555-150C>T single nucleotide variant not provided [RCV001639033] Chr3:128897482 [GRCh38]
Chr3:128616325 [GRCh37]
Chr3:3q21.3		 benign
NC_000003.12:g.128879333C>T single nucleotide variant not provided [RCV001556303] Chr3:128879333 [GRCh38]
Chr3:128598176 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+63GT[22] microsatellite not provided [RCV001685086] Chr3:128899523..128899524 [GRCh38]
Chr3:128618366..128618367 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1150-85G>A single nucleotide variant not provided [RCV001556406] Chr3:128906036 [GRCh38]
Chr3:128624879 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.*194A>G single nucleotide variant not provided [RCV002284791] Chr3:128912801 [GRCh38]
Chr3:128631644 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.958+175G>C single nucleotide variant not provided [RCV001567883] Chr3:128902803 [GRCh38]
Chr3:128621646 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+51C>T single nucleotide variant not provided [RCV001558572] Chr3:128904556 [GRCh38]
Chr3:128623399 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-204G>C single nucleotide variant not provided [RCV001558663] Chr3:128912303 [GRCh38]
Chr3:128631146 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+57C>T single nucleotide variant not provided [RCV001677760] Chr3:128904562 [GRCh38]
Chr3:128623405 [GRCh37]
Chr3:3q21.3		 benign
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance|no classifications from unflagged records
NM_014049.5(ACAD9):c.1029+10G>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001275324]|not provided [RCV000909947] Chr3:128904142 [GRCh38]
Chr3:128622985 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1596G>C (p.Arg532=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001836042]|not provided [RCV000974699] Chr3:128910053 [GRCh38]
Chr3:128628896 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1017T>C (p.Phe339=) single nucleotide variant not provided [RCV000930621] Chr3:128904120 [GRCh38]
Chr3:128622963 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1533C>T (p.Thr511=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001826955]|not provided [RCV000932005] Chr3:128909391 [GRCh38]
Chr3:128628234 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1675C>T (p.Arg559Cys) single nucleotide variant not provided [RCV001760490] Chr3:128910132 [GRCh38]
Chr3:128628975 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.432G>A (p.Ala144=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001832216]|not provided [RCV000973781] Chr3:128895395 [GRCh38]
Chr3:128614238 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.633+2T>A single nucleotide variant not provided [RCV001236262] Chr3:128897712 [GRCh38]
Chr3:128616555 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001144955]|Inborn genetic diseases [RCV004032737]|not provided [RCV002557102] Chr3:128899431 [GRCh38]
Chr3:128618274 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1150-5C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147805]|not provided [RCV001432879] Chr3:128906116 [GRCh38]
Chr3:128624959 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.*499G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147896] Chr3:128913106 [GRCh38]
Chr3:128631949 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1645C>A (p.Arg549=) single nucleotide variant not provided [RCV000913524] Chr3:128910102 [GRCh38]
Chr3:128628945 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-6C>T single nucleotide variant ACAD9-related disorder [RCV003950790]|Acyl-CoA dehydrogenase 9 deficiency [RCV001275323]|not provided [RCV000913552] Chr3:128904056 [GRCh38]
Chr3:128622899 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1463G>A (p.Gly488Glu) single nucleotide variant not provided [RCV004799803] Chr3:128909077 [GRCh38]
Chr3:128627920 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.808+22G>A single nucleotide variant not provided [RCV001562426] Chr3:128899483 [GRCh38]
Chr3:128618326 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-13T>A single nucleotide variant not provided [RCV001597911] Chr3:128904049 [GRCh38]
Chr3:128622892 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.453+281C>T single nucleotide variant not provided [RCV001661136] Chr3:128895697 [GRCh38]
Chr3:128614540 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1358+137C>G single nucleotide variant not provided [RCV001677496] Chr3:128908401 [GRCh38]
Chr3:128627244 [GRCh37]
Chr3:3q21.3		 benign
GRCh37/hg19 3q21.3(chr3:128412318-128677197)x3 copy number gain not provided [RCV002472751] Chr3:128412318..128677197 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.347-309T>C single nucleotide variant not provided [RCV001656160] Chr3:128895001 [GRCh38]
Chr3:128613844 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1150-84T>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001543809]|not provided [RCV001707901] Chr3:128906037 [GRCh38]
Chr3:128624880 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.633+163T>A single nucleotide variant not provided [RCV001555175] Chr3:128897873 [GRCh38]
Chr3:128616716 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-141A>G single nucleotide variant not provided [RCV001594331] Chr3:128909880 [GRCh38]
Chr3:128628723 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.555-169_555-167del microsatellite not provided [RCV001550674] Chr3:128897459..128897461 [GRCh38]
Chr3:128616302..128616304 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001832765]|not provided [RCV001561333] Chr3:128910091 [GRCh38]
Chr3:128628934 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1563+217_1563+218del microsatellite not provided [RCV001636582] Chr3:128909636..128909637 [GRCh38]
Chr3:128628479..128628480 [GRCh37]
Chr3:3q21.3		 benign
NC_000003.12:g.128879388A>C single nucleotide variant not provided [RCV001657645] Chr3:128879388 [GRCh38]
Chr3:128598231 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.809-103TGGA[11] microsatellite not provided [RCV001636520] Chr3:128901172..128901173 [GRCh38]
Chr3:128620015..128620016 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.958+267T>C single nucleotide variant not provided [RCV001716572] Chr3:128902895 [GRCh38]
Chr3:128621738 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.808+133A>G single nucleotide variant not provided [RCV001589823] Chr3:128899594 [GRCh38]
Chr3:128618437 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-302A>G single nucleotide variant not provided [RCV001597868] Chr3:128908671 [GRCh38]
Chr3:128627514 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.151-200T>C single nucleotide variant not provided [RCV001654030] Chr3:128884453 [GRCh38]
Chr3:128603296 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1359-196T>C single nucleotide variant not provided [RCV001638304] Chr3:128908777 [GRCh38]
Chr3:128627620 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1278+153C>T single nucleotide variant not provided [RCV001598945] Chr3:128906402 [GRCh38]
Chr3:128625245 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.882+214C>T single nucleotide variant not provided [RCV001676544] Chr3:128901563 [GRCh38]
Chr3:128620406 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.981C>T (p.Cys327=) single nucleotide variant not provided [RCV001659032] Chr3:128904084 [GRCh38]
Chr3:128622927 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+63GT[21] microsatellite not provided [RCV001716164] Chr3:128899523..128899524 [GRCh38]
Chr3:128618366..128618367 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.633+76C>A single nucleotide variant not provided [RCV001592207] Chr3:128897786 [GRCh38]
Chr3:128616629 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001144951] Chr3:128895346 [GRCh38]
Chr3:128614189 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001145056]|not provided [RCV001858950] Chr3:128910753 [GRCh38]
Chr3:128629596 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001151050]|Inborn genetic diseases [RCV004032789]|not provided [RCV001474707] Chr3:128893594 [GRCh38]
Chr3:128612437 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1563+212G>A single nucleotide variant not provided [RCV001587132] Chr3:128909633 [GRCh38]
Chr3:128628476 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+174C>T single nucleotide variant not provided [RCV001588723] Chr3:128906423 [GRCh38]
Chr3:128625266 [GRCh37]
Chr3:3q21.3		 likely benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
NM_014049.5(ACAD9):c.1358+198G>A single nucleotide variant not provided [RCV001713325] Chr3:128908462 [GRCh38]
Chr3:128627305 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1693-78_1693-75dup duplication not provided [RCV001652238] Chr3:128910662..128910663 [GRCh38]
Chr3:128629505..128629506 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001089483] Chr3:128897709 [GRCh38]
Chr3:128616552 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001089484] Chr3:128901309 [GRCh38]
Chr3:128620152 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.809-103TGGA[10] microsatellite not provided [RCV001684961] Chr3:128901172..128901173 [GRCh38]
Chr3:128620015..128620016 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1358+1G>C single nucleotide variant not provided [RCV001065702] Chr3:128908265 [GRCh38]
Chr3:128627108 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001145055]|not provided [RCV001451629] Chr3:128910121 [GRCh38]
Chr3:128628964 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1563+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004570135]|not provided [RCV001042111] Chr3:128909422 [GRCh38]
Chr3:128628265 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001151049] Chr3:128879797 [GRCh38]
Chr3:128598640 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) single nucleotide variant ACAD9-related disorder [RCV004755828]|Acyl-CoA dehydrogenase 9 deficiency [RCV001007946]|Mitochondrial complex I deficiency [RCV003317172]|not provided [RCV001582794] Chr3:128899449 [GRCh38]
Chr3:128618292 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002471031]|not provided [RCV001071600] Chr3:128909043 [GRCh38]
Chr3:128627886 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NC_000003.12:g.(?_128899277)_(128899471_?)del deletion not provided [RCV001031862] Chr3:128618120..128618314 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.*341C>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001147895] Chr3:128912948 [GRCh38]
Chr3:128631791 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.12:g.(?_128893545)_(128896546_?)del deletion not provided [RCV001033337] Chr3:128612388..128615389 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) single nucleotide variant not provided [RCV001268384] Chr3:128899381 [GRCh38]
Chr3:128618224 [GRCh37]
Chr3:3q21.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001333001] Chr3:128908218 [GRCh38]
Chr3:128627061 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) single nucleotide variant ACAD9-related disorder [RCV003973207]|Acyl-CoA dehydrogenase 9 deficiency [RCV001333004]|Inborn genetic diseases [RCV003169558]|not provided [RCV002546610] Chr3:128896461 [GRCh38]
Chr3:128615304 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.555-116C>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001543808]|not provided [RCV001713001] Chr3:128897516 [GRCh38]
Chr3:128616359 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.867C>T (p.Val289=) single nucleotide variant ACAD9-related disorder [RCV003898376]|not provided [RCV001392813] Chr3:128901334 [GRCh38]
Chr3:128620177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.184dup (p.Asp62fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV001335613]|not provided [RCV001871875] Chr3:128884685..128884686 [GRCh38]
Chr3:128603528..128603529 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.93C>T (p.Arg31=) single nucleotide variant not provided [RCV001415485] Chr3:128879784 [GRCh38]
Chr3:128598627 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+8G>A single nucleotide variant not provided [RCV001391900] Chr3:128909107 [GRCh38]
Chr3:128627950 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1008C>T (p.Leu336=) single nucleotide variant not provided [RCV001413291] Chr3:128904111 [GRCh38]
Chr3:128622954 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+9C>T single nucleotide variant not provided [RCV001414951] Chr3:128901358 [GRCh38]
Chr3:128620201 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001279644]|not provided [RCV002537857]|not specified [RCV002509647] Chr3:128910141 [GRCh38]
Chr3:128628984 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.777C>T (p.Pro259=) single nucleotide variant not provided [RCV001415346] Chr3:128899430 [GRCh38]
Chr3:128618273 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1462G>T (p.Gly488Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004570951]|not provided [RCV001383265] Chr3:128909076 [GRCh38]
Chr3:128627919 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.959-5C>T single nucleotide variant ACAD9-related disorder [RCV003953761]|not provided [RCV001415370] Chr3:128904057 [GRCh38]
Chr3:128622900 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.561C>T (p.Ser187=) single nucleotide variant not provided [RCV001397304] Chr3:128897638 [GRCh38]
Chr3:128616481 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.315G>A (p.Gly105=) single nucleotide variant not provided [RCV001397114] Chr3:128893625 [GRCh38]
Chr3:128612468 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1602C>T (p.Ala534=) single nucleotide variant not provided [RCV001423175] Chr3:128910059 [GRCh38]
Chr3:128628902 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001333000] Chr3:128906250 [GRCh38]
Chr3:128625093 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001279641] Chr3:128895351 [GRCh38]
Chr3:128614194 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1413T>C (p.Leu471=) single nucleotide variant not provided [RCV001413218] Chr3:128909027 [GRCh38]
Chr3:128627870 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1167C>T (p.Ala389=) single nucleotide variant not provided [RCV001394574] Chr3:128906138 [GRCh38]
Chr3:128624981 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-5del deletion not provided [RCV001396411] Chr3:128904056 [GRCh38]
Chr3:128622899 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001279642]|not specified [RCV004690058] Chr3:128899408 [GRCh38]
Chr3:128618251 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1635C>G (p.Ala545=) single nucleotide variant not provided [RCV001394795] Chr3:128910092 [GRCh38]
Chr3:128628935 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1638G>A (p.Val546=) single nucleotide variant not provided [RCV001421351] Chr3:128910095 [GRCh38]
Chr3:128628938 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.702T>C (p.Ser234=) single nucleotide variant not provided [RCV001421442] Chr3:128899355 [GRCh38]
Chr3:128618198 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.75G>C (p.Ala25=) single nucleotide variant not provided [RCV001413745] Chr3:128879766 [GRCh38]
Chr3:128598609 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.220G>A (p.Val74Met) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001333003]|Inborn genetic diseases [RCV002546608]|not provided [RCV002546609] Chr3:128884722 [GRCh38]
Chr3:128603565 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.958+9G>A single nucleotide variant not provided [RCV001421356] Chr3:128902637 [GRCh38]
Chr3:128621480 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001335615] Chr3:128904079 [GRCh38]
Chr3:128622922 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.883-10C>G single nucleotide variant not provided [RCV001494118] Chr3:128902543 [GRCh38]
Chr3:128621386 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.693C>A (p.Val231=) single nucleotide variant not provided [RCV001485407] Chr3:128899346 [GRCh38]
Chr3:128618189 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-10T>C single nucleotide variant not provided [RCV001450525] Chr3:128912497 [GRCh38]
Chr3:128631340 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.555-4G>T single nucleotide variant not provided [RCV001468314] Chr3:128897628 [GRCh38]
Chr3:128616471 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-8G>A single nucleotide variant not provided [RCV001435630] Chr3:128909336 [GRCh38]
Chr3:128628179 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1209C>T (p.Gly403=) single nucleotide variant not provided [RCV001475238] Chr3:128906180 [GRCh38]
Chr3:128625023 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+12_1563+21del deletion not provided [RCV001454089] Chr3:128909426..128909435 [GRCh38]
Chr3:128628269..128628278 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1701G>A (p.Leu567=) single nucleotide variant not provided [RCV001424974] Chr3:128910749 [GRCh38]
Chr3:128629592 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.894C>T (p.Asn298=) single nucleotide variant not provided [RCV001473550] Chr3:128902564 [GRCh38]
Chr3:128621407 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1023G>A (p.Leu341=) single nucleotide variant not provided [RCV001458767] Chr3:128904126 [GRCh38]
Chr3:128622969 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1440C>T (p.Asp480=) single nucleotide variant not provided [RCV001498940] Chr3:128909054 [GRCh38]
Chr3:128627897 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1614C>T (p.Ile538=) single nucleotide variant not provided [RCV001482129] Chr3:128910071 [GRCh38]
Chr3:128628914 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001826304]|not provided [RCV001473801] Chr3:128893564 [GRCh38]
Chr3:128612407 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.211T>C (p.Leu71=) single nucleotide variant not provided [RCV001476237] Chr3:128884713 [GRCh38]
Chr3:128603556 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.870A>G (p.Gly290=) single nucleotide variant not provided [RCV001475409] Chr3:128901337 [GRCh38]
Chr3:128620180 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1188G>A (p.Glu396=) single nucleotide variant not provided [RCV001492757] Chr3:128906159 [GRCh38]
Chr3:128625002 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1578G>A (p.Glu526=) single nucleotide variant not provided [RCV001471659] Chr3:128910035 [GRCh38]
Chr3:128628878 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.656T>A (p.Leu219Gln) single nucleotide variant not provided [RCV001483934] Chr3:128899309 [GRCh38]
Chr3:128618152 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1524C>T (p.Phe508=) single nucleotide variant not provided [RCV001437216] Chr3:128909382 [GRCh38]
Chr3:128628225 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.927C>T (p.Ser309=) single nucleotide variant not provided [RCV001439640] Chr3:128902597 [GRCh38]
Chr3:128621440 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1161C>T (p.Ser387=) single nucleotide variant not provided [RCV001471964] Chr3:128906132 [GRCh38]
Chr3:128624975 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1857G>A (p.Arg619=) single nucleotide variant not provided [RCV001489301] Chr3:128912598 [GRCh38]
Chr3:128631441 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+8A>G single nucleotide variant not provided [RCV001487101] Chr3:128893664 [GRCh38]
Chr3:128612507 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1380G>A (p.Val460=) single nucleotide variant not provided [RCV001491727] Chr3:128908994 [GRCh38]
Chr3:128627837 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1026T>C (p.Ile342=) single nucleotide variant not provided [RCV001423558] Chr3:128904129 [GRCh38]
Chr3:128622972 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.219C>T (p.Pro73=) single nucleotide variant not provided [RCV001429253] Chr3:128884721 [GRCh38]
Chr3:128603564 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+10T>C single nucleotide variant not provided [RCV001489530] Chr3:128896546 [GRCh38]
Chr3:128615389 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.912G>A (p.Arg304=) single nucleotide variant not provided [RCV001491864] Chr3:128902582 [GRCh38]
Chr3:128621425 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.75G>T (p.Ala25=) single nucleotide variant ACAD9-related disorder [RCV004756251]|Acyl-CoA dehydrogenase 9 deficiency [RCV001826300]|not provided [RCV001470621] Chr3:128879766 [GRCh38]
Chr3:128598609 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003469743]|not provided [RCV001388626] Chr3:128893563 [GRCh38]
Chr3:128612406 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.408G>A (p.Gly136=) single nucleotide variant not provided [RCV001501080] Chr3:128895371 [GRCh38]
Chr3:128614214 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-9T>C single nucleotide variant not provided [RCV001483831] Chr3:128908176 [GRCh38]
Chr3:128627019 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1236C>T (p.Tyr412=) single nucleotide variant not provided [RCV001472501] Chr3:128906207 [GRCh38]
Chr3:128625050 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1030-7A>C single nucleotide variant not provided [RCV001467363] Chr3:128904379 [GRCh38]
Chr3:128623222 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-10C>T single nucleotide variant not provided [RCV001460262] Chr3:128899277 [GRCh38]
Chr3:128618120 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+10A>G single nucleotide variant not provided [RCV001490078] Chr3:128910823 [GRCh38]
Chr3:128629666 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.912G>T (p.Arg304=) single nucleotide variant not provided [RCV001492061] Chr3:128902582 [GRCh38]
Chr3:128621425 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1855A>C (p.Arg619=) single nucleotide variant not provided [RCV001505271] Chr3:128912596 [GRCh38]
Chr3:128631439 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1515C>T (p.Thr505=) single nucleotide variant not provided [RCV001426154] Chr3:128909373 [GRCh38]
Chr3:128628216 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003469657]|Inborn genetic diseases [RCV002550259]|not provided [RCV001381042] Chr3:128910097..128910098 [GRCh38]
Chr3:128628940..128628941 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.1644G>A (p.Ser548=) single nucleotide variant not provided [RCV001420059] Chr3:128910101 [GRCh38]
Chr3:128628944 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1218C>A (p.Tyr406Ter) single nucleotide variant not provided [RCV001381073] Chr3:128906189 [GRCh38]
Chr3:128625032 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1020A>G (p.Gly340=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001826257]|not provided [RCV001439475] Chr3:128904123 [GRCh38]
Chr3:128622966 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+10C>T single nucleotide variant not provided [RCV001439535] Chr3:128901359 [GRCh38]
Chr3:128620202 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1617C>T (p.Asn539=) single nucleotide variant not provided [RCV001404432] Chr3:128910074 [GRCh38]
Chr3:128628917 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.876G>T (p.Gly292=) single nucleotide variant not provided [RCV001441057] Chr3:128901343 [GRCh38]
Chr3:128620186 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1150-8C>T single nucleotide variant not provided [RCV001446354] Chr3:128906113 [GRCh38]
Chr3:128624956 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.165A>G (p.Pro55=) single nucleotide variant not provided [RCV001412179] Chr3:128884667 [GRCh38]
Chr3:128603510 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.330del (p.Val111fs) deletion not provided [RCV001389533] Chr3:128893639 [GRCh38]
Chr3:128612482 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.996T>C (p.Phe332=) single nucleotide variant not provided [RCV001410129] Chr3:128904099 [GRCh38]
Chr3:128622942 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.12C>T (p.Cys4=) single nucleotide variant not provided [RCV001449338] Chr3:128879703 [GRCh38]
Chr3:128598546 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-6T>G single nucleotide variant not provided [RCV001400380] Chr3:128893549 [GRCh38]
Chr3:128612392 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-8T>A single nucleotide variant not provided [RCV001436193] Chr3:128904054 [GRCh38]
Chr3:128622897 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003136069]|not provided [RCV001407859] Chr3:128912542 [GRCh38]
Chr3:128631385 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1275C>T (p.Phe425=) single nucleotide variant not provided [RCV001426143] Chr3:128906246 [GRCh38]
Chr3:128625089 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1389C>T (p.Val463=) single nucleotide variant not provided [RCV001437801] Chr3:128909003 [GRCh38]
Chr3:128627846 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.777C>G (p.Pro259=) single nucleotide variant not provided [RCV001392880] Chr3:128899430 [GRCh38]
Chr3:128618273 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-6T>A single nucleotide variant not provided [RCV001392946] Chr3:128910015 [GRCh38]
Chr3:128628858 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.636C>A (p.Val212=) single nucleotide variant not provided [RCV001392978] Chr3:128899289 [GRCh38]
Chr3:128618132 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-8T>G single nucleotide variant not provided [RCV001403373] Chr3:128896428 [GRCh38]
Chr3:128615271 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1631C>T (p.Thr544Met) single nucleotide variant not provided [RCV001444921] Chr3:128910088 [GRCh38]
Chr3:128628931 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-8G>C single nucleotide variant not provided [RCV001411131] Chr3:128908177 [GRCh38]
Chr3:128627020 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1060dup (p.Tyr354fs) duplication not provided [RCV001387739] Chr3:128904414..128904415 [GRCh38]
Chr3:128623257..128623258 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1035A>G (p.Lys345=) single nucleotide variant not provided [RCV001424109] Chr3:128904391 [GRCh38]
Chr3:128623234 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1860A>G (p.Thr620=) single nucleotide variant not provided [RCV001445591] Chr3:128912601 [GRCh38]
Chr3:128631444 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1635C>T (p.Ala545=) single nucleotide variant not provided [RCV001448411] Chr3:128910092 [GRCh38]
Chr3:128628935 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity
NM_014049.5(ACAD9):c.1766-5_1766-4insA insertion not provided [RCV001411844] Chr3:128912502..128912503 [GRCh38]
Chr3:128631345..128631346 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.801C>T (p.Gly267=) single nucleotide variant not provided [RCV001454373] Chr3:128899454 [GRCh38]
Chr3:128618297 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-169A>T single nucleotide variant not provided [RCV001539666] Chr3:128893386 [GRCh38]
Chr3:128612229 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1706A>G (p.Asn569Ser) single nucleotide variant Inborn genetic diseases [RCV003284347]|not provided [RCV001490182] Chr3:128910754 [GRCh38]
Chr3:128629597 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1149+7C>G single nucleotide variant not provided [RCV001457168] Chr3:128904512 [GRCh38]
Chr3:128623355 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.453+9T>G single nucleotide variant not provided [RCV001468666] Chr3:128895425 [GRCh38]
Chr3:128614268 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+25C>A single nucleotide variant not provided [RCV001586320] Chr3:128909124 [GRCh38]
Chr3:128627967 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+9_882+35del deletion not provided [RCV001468952] Chr3:128901357..128901383 [GRCh38]
Chr3:128620200..128620226 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.301T>C (p.Leu101=) single nucleotide variant not provided [RCV001464881] Chr3:128893611 [GRCh38]
Chr3:128612454 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001826317]|Inborn genetic diseases [RCV002562705]|not provided [RCV001486207] Chr3:128910765 [GRCh38]
Chr3:128629608 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1332C>A (p.Ala444=) single nucleotide variant not provided [RCV001457924] Chr3:128908238 [GRCh38]
Chr3:128627081 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+62G>T single nucleotide variant not provided [RCV001713397] Chr3:128899523 [GRCh38]
Chr3:128618366 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.282A>G (p.Pro94=) single nucleotide variant not provided [RCV001491268] Chr3:128893592 [GRCh38]
Chr3:128612435 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+10C>T single nucleotide variant not provided [RCV001483078] Chr3:128906259 [GRCh38]
Chr3:128625102 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-256T>C single nucleotide variant not provided [RCV001588690] Chr3:128910485 [GRCh38]
Chr3:128629328 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+63GT[23] microsatellite not provided [RCV001713384] Chr3:128899523..128899524 [GRCh38]
Chr3:128618366..128618367 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.843T>G (p.Pro281=) single nucleotide variant not provided [RCV001462933] Chr3:128901310 [GRCh38]
Chr3:128620153 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1150-154C>T single nucleotide variant not provided [RCV001617709] Chr3:128905967 [GRCh38]
Chr3:128624810 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1689C>T (p.His563=) single nucleotide variant not provided [RCV001504133] Chr3:128910146 [GRCh38]
Chr3:128628989 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.351C>G (p.Gly117=) single nucleotide variant not provided [RCV001497787] Chr3:128895314 [GRCh38]
Chr3:128614157 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.936T>G (p.Ala312=) single nucleotide variant not provided [RCV001488276] Chr3:128902606 [GRCh38]
Chr3:128621449 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.347-68dup duplication not provided [RCV001672152] Chr3:128895232..128895233 [GRCh38]
Chr3:128614075..128614076 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1766-173C>T single nucleotide variant not provided [RCV001696492] Chr3:128912334 [GRCh38]
Chr3:128631177 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.540C>T (p.Leu180=) single nucleotide variant not provided [RCV001498282] Chr3:128896522 [GRCh38]
Chr3:128615365 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.456G>A (p.Gly152=) single nucleotide variant not provided [RCV001456714] Chr3:128896438 [GRCh38]
Chr3:128615281 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.694G>A (p.Val232Ile) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001836412]|not provided [RCV001468887] Chr3:128899347 [GRCh38]
Chr3:128618190 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1539G>A (p.Glu513=) single nucleotide variant not provided [RCV001431285] Chr3:128909397 [GRCh38]
Chr3:128628240 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1335C>T (p.Gly445=) single nucleotide variant not provided [RCV001442268] Chr3:128908241 [GRCh38]
Chr3:128627084 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+8G>C single nucleotide variant not provided [RCV001425324] Chr3:128910821 [GRCh38]
Chr3:128629664 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+8G>A single nucleotide variant not provided [RCV001485845] Chr3:128910821 [GRCh38]
Chr3:128629664 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1620G>C (p.Leu540=) single nucleotide variant not provided [RCV001506087] Chr3:128910077 [GRCh38]
Chr3:128628920 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.105T>A (p.Pro35=) single nucleotide variant not provided [RCV001464262] Chr3:128879796 [GRCh38]
Chr3:128598639 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.69T>C (p.Ser23=) single nucleotide variant not provided [RCV001477160] Chr3:128879760 [GRCh38]
Chr3:128598603 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.352C>T (p.Leu118=) single nucleotide variant not provided [RCV001467413] Chr3:128895315 [GRCh38]
Chr3:128614158 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.22C>T (p.Leu8=) single nucleotide variant not provided [RCV001506965] Chr3:128879713 [GRCh38]
Chr3:128598556 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1074T>C (p.Ser358=) single nucleotide variant not provided [RCV001406237] Chr3:128904430 [GRCh38]
Chr3:128623273 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.463T>C (p.Leu155=) single nucleotide variant not provided [RCV001480303] Chr3:128896445 [GRCh38]
Chr3:128615288 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+4AGCCC[3] microsatellite not provided [RCV001443219] Chr3:128910152..128910153 [GRCh38]
Chr3:128628995..128628996 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1203C>T (p.Leu401=) single nucleotide variant not provided [RCV001479171] Chr3:128906174 [GRCh38]
Chr3:128625017 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1632G>A (p.Thr544=) single nucleotide variant not provided [RCV001454197] Chr3:128910089 [GRCh38]
Chr3:128628932 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.970dup (p.Glu324fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003469731]|not provided [RCV001387355] Chr3:128904072..128904073 [GRCh38]
Chr3:128622915..128622916 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1119C>T (p.Pro373=) single nucleotide variant not provided [RCV001438214] Chr3:128904475 [GRCh38]
Chr3:128623318 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-10T>C single nucleotide variant not provided [RCV001443605] Chr3:128909334 [GRCh38]
Chr3:128628177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001831359]|not provided [RCV001378805] Chr3:128901350 [GRCh38]
Chr3:128620193 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.6C>T (p.Ser2=) single nucleotide variant not provided [RCV001416003] Chr3:128879697 [GRCh38]
Chr3:128598540 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.387G>A (p.Gly129=) single nucleotide variant not provided [RCV001459363] Chr3:128895350 [GRCh38]
Chr3:128614193 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.990A>G (p.Lys330=) single nucleotide variant not provided [RCV001476913] Chr3:128904093 [GRCh38]
Chr3:128622936 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1699T>C (p.Leu567=) single nucleotide variant not provided [RCV001426703] Chr3:128910747 [GRCh38]
Chr3:128629590 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.336A>G (p.Pro112=) single nucleotide variant not provided [RCV001484082] Chr3:128893646 [GRCh38]
Chr3:128612489 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-2A>G single nucleotide variant not provided [RCV001379675] Chr3:128908971 [GRCh38]
Chr3:128627814 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.102G>T (p.Pro34=) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV001826342]|not provided [RCV001499803] Chr3:128879793 [GRCh38]
Chr3:128598636 [GRCh37]
Chr3:3q21.3		 benign|likely benign
NM_014049.5(ACAD9):c.775C>T (p.Pro259Ser) single nucleotide variant not provided [RCV001727267] Chr3:128899428 [GRCh38]
Chr3:128618271 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1079C>G (p.Thr360Ser) single nucleotide variant not provided [RCV001761366] Chr3:128904435 [GRCh38]
Chr3:128623278 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003469176]|not provided [RCV001753708]|not specified [RCV003401190] Chr3:128908204 [GRCh38]
Chr3:128627047 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.445G>A (p.Gly149Ser) single nucleotide variant not provided [RCV001752219] Chr3:128895408 [GRCh38]
Chr3:128614251 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.754delinsAA (p.Gly252fs) indel Acyl-CoA dehydrogenase 9 deficiency [RCV001780639] Chr3:128899407 [GRCh38]
Chr3:128618250 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1345A>G (p.Thr449Ala) single nucleotide variant not provided [RCV001794749] Chr3:128908251 [GRCh38]
Chr3:128627094 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1131C>G (p.Ile377Met) single nucleotide variant not provided [RCV001761367] Chr3:128904487 [GRCh38]
Chr3:128623330 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1504GAG[1] (p.Glu503del) microsatellite ACAD9-related disorder [RCV004756285]|not provided [RCV001763657]|not specified [RCV003317524] Chr3:128909362..128909364 [GRCh38]
Chr3:128628205..128628207 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.656T>G (p.Leu219Arg) single nucleotide variant Inborn genetic diseases [RCV002558470]|not provided [RCV001926397] Chr3:128899309 [GRCh38]
Chr3:128618152 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1420T>A (p.Ser474Thr) single nucleotide variant not provided [RCV001895842] Chr3:128909034 [GRCh38]
Chr3:128627877 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.808+2T>C single nucleotide variant not provided [RCV002002653] Chr3:128899463 [GRCh38]
Chr3:128618306 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1750T>C (p.Ser584Pro) single nucleotide variant not specified [RCV001844660] Chr3:128910798 [GRCh38]
Chr3:128629641 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1419C>G (p.Asp473Glu) single nucleotide variant not provided [RCV001970240] Chr3:128909033 [GRCh38]
Chr3:128627876 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q21.3(chr3:128163252-128660960)x3 copy number gain not provided [RCV001827975] Chr3:128163252..128660960 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.554+1G>A single nucleotide variant not provided [RCV001969141] Chr3:128896537 [GRCh38]
Chr3:128615380 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002486758]|not provided [RCV002043843]|not specified [RCV002282683] Chr3:128910103 [GRCh38]
Chr3:128628946 [GRCh37]
Chr3:3q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_014049.5(ACAD9):c.1030-5T>A single nucleotide variant not provided [RCV001892172] Chr3:128904381 [GRCh38]
Chr3:128623224 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004571697]|Mitochondrial complex I deficiency [RCV004579582]|not provided [RCV002021912] Chr3:128906211 [GRCh38]
Chr3:128625054 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.43C>T (p.Arg15Cys) single nucleotide variant not provided [RCV001986815] Chr3:128879734 [GRCh38]
Chr3:128598577 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1222dup (p.Arg408fs) duplication not provided [RCV001871330] Chr3:128906191..128906192 [GRCh38]
Chr3:128625034..128625035 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1029+1dup duplication Mitochondrial complex I deficiency [RCV002307793]|not provided [RCV001945355] Chr3:128904131..128904132 [GRCh38]
Chr3:128622974..128622975 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002487095]|Inborn genetic diseases [RCV002518404]|not provided [RCV001857785] Chr3:128912587 [GRCh38]
Chr3:128631430 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.808+19C>T single nucleotide variant not provided [RCV001931153] Chr3:128899480 [GRCh38]
Chr3:128618323 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.506_507del (p.Leu169fs) deletion not provided [RCV001944228] Chr3:128896488..128896489 [GRCh38]
Chr3:128615331..128615332 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1663C>T (p.Arg555Cys) single nucleotide variant not provided [RCV001888495] Chr3:128910120 [GRCh38]
Chr3:128628963 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.800G>C (p.Gly267Ala) single nucleotide variant not provided [RCV001922827] Chr3:128899453 [GRCh38]
Chr3:128618296 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003464301]|not provided [RCV001942003] Chr3:128901335 [GRCh38]
Chr3:128620178 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000003.12:g.128884651AGAA[1] microsatellite not provided [RCV002037817] Chr3:128884651..128884654 [GRCh38]
Chr3:128603494..128603497 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.73G>A (p.Ala25Thr) single nucleotide variant Inborn genetic diseases [RCV003247120]|not provided [RCV001925016] Chr3:128879764 [GRCh38]
Chr3:128598607 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.259del (p.Ile87fs) deletion not provided [RCV001930670] Chr3:128893565 [GRCh38]
Chr3:128612408 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1358+2T>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004571866]|not provided [RCV001977427] Chr3:128908266 [GRCh38]
Chr3:128627109 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1150-2A>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003464336]|not provided [RCV001973012] Chr3:128906119 [GRCh38]
Chr3:128624962 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.109C>T (p.Arg37Ter) single nucleotide variant not provided [RCV001898277] Chr3:128879800 [GRCh38]
Chr3:128598643 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.753_754insA (p.Gly252fs) insertion not provided [RCV001951016] Chr3:128899406..128899407 [GRCh38]
Chr3:128618249..128618250 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001993054] Chr3:128879694 [GRCh38]
Chr3:128598537 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.187G>T (p.Glu63Ter) single nucleotide variant not provided [RCV001951053] Chr3:128884689 [GRCh38]
Chr3:128603532 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1029+1G>T single nucleotide variant not provided [RCV001977156] Chr3:128904133 [GRCh38]
Chr3:128622976 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1485+6T>A single nucleotide variant not provided [RCV001989545] Chr3:128909105 [GRCh38]
Chr3:128627948 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1278+1G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003470943]|not provided [RCV002034898] Chr3:128906250 [GRCh38]
Chr3:128625093 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.674T>C (p.Val225Ala) single nucleotide variant not provided [RCV001955712] Chr3:128899327 [GRCh38]
Chr3:128618170 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1241G>A (p.Arg414His) single nucleotide variant not provided [RCV001977575]|not specified [RCV004690206] Chr3:128906212 [GRCh38]
Chr3:128625055 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.504del (p.Lys168fs) deletion not provided [RCV001939666] Chr3:128896484 [GRCh38]
Chr3:128615327 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.170C>T (p.Pro57Leu) single nucleotide variant not provided [RCV002036768] Chr3:128884672 [GRCh38]
Chr3:128603515 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.825del (p.Phe275fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003471008]|not provided [RCV001884747] Chr3:128901289 [GRCh38]
Chr3:128620132 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003470954]|not provided [RCV002047607] Chr3:128896477..128896481 [GRCh38]
Chr3:128615320..128615324 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.340G>T (p.Glu114Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003464236]|not provided [RCV001921124] Chr3:128893650 [GRCh38]
Chr3:128612493 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.902A>G (p.Asn301Ser) single nucleotide variant not provided [RCV001923612] Chr3:128902572 [GRCh38]
Chr3:128621415 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1017_1026del (p.Gly340fs) deletion not provided [RCV001906038] Chr3:128904117..128904126 [GRCh38]
Chr3:128622960..128622969 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.205C>T (p.Gln69Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003464225]|not provided [RCV001937919] Chr3:128884707 [GRCh38]
Chr3:128603550 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_014049.5(ACAD9):c.1266_1270dup (p.Ile424fs) duplication not provided [RCV001885821] Chr3:128906236..128906237 [GRCh38]
Chr3:128625079..128625080 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.957del (p.Ile319fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003471169]|not provided [RCV001951010] Chr3:128902626 [GRCh38]
Chr3:128621469 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1288_1291dup (p.Ile431fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV003471074]|not provided [RCV001971916] Chr3:128908193..128908194 [GRCh38]
Chr3:128627036..128627037 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1487A>C (p.Asp496Ala) single nucleotide variant not provided [RCV001918521] Chr3:128909345 [GRCh38]
Chr3:128628188 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1674_1692+34del deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003136403]|Mitochondrial complex I deficiency [RCV002509733]|not provided [RCV001991010] Chr3:128910127..128910179 [GRCh38]
Chr3:128628970..128629022 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.460A>G (p.Ile154Val) single nucleotide variant not provided [RCV001992961] Chr3:128896442 [GRCh38]
Chr3:128615285 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001974959] Chr3:128879692 [GRCh38]
Chr3:128598535 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1693-11G>A single nucleotide variant not provided [RCV001902033] Chr3:128910730 [GRCh38]
Chr3:128629573 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.436C>A (p.Gln146Lys) single nucleotide variant not provided [RCV002048167] Chr3:128895399 [GRCh38]
Chr3:128614242 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.907G>T (p.Gly303Cys) single nucleotide variant not provided [RCV001990555] Chr3:128902577 [GRCh38]
Chr3:128621420 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.171A>G (p.Pro57=) single nucleotide variant not provided [RCV002075488] Chr3:128884673 [GRCh38]
Chr3:128603516 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.51C>T (p.Cys17=) single nucleotide variant not provided [RCV002112280] Chr3:128879742 [GRCh38]
Chr3:128598585 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1441C>T (p.Leu481=) single nucleotide variant not provided [RCV002111198] Chr3:128909055 [GRCh38]
Chr3:128627898 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.483G>A (p.Gln161=) single nucleotide variant not provided [RCV002110817] Chr3:128896465 [GRCh38]
Chr3:128615308 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.66C>G (p.Val22=) single nucleotide variant not provided [RCV002110828] Chr3:128879757 [GRCh38]
Chr3:128598600 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1246C>T (p.Leu416=) single nucleotide variant not provided [RCV002112535] Chr3:128906217 [GRCh38]
Chr3:128625060 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.756T>A (p.Gly252=) single nucleotide variant not provided [RCV002127614] Chr3:128899409 [GRCh38]
Chr3:128618252 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1548G>C (p.Leu516=) single nucleotide variant not provided [RCV002092801] Chr3:128909406 [GRCh38]
Chr3:128628249 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+17C>T single nucleotide variant not provided [RCV002112127] Chr3:128899478 [GRCh38]
Chr3:128618321 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1564-4C>T single nucleotide variant not provided [RCV002184867] Chr3:128910017 [GRCh38]
Chr3:128628860 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1248G>C (p.Leu416=) single nucleotide variant not provided [RCV002207258] Chr3:128906219 [GRCh38]
Chr3:128625062 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1755G>A (p.Gln585=) single nucleotide variant not provided [RCV002187091] Chr3:128910803 [GRCh38]
Chr3:128629646 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1104C>T (p.Asp368=) single nucleotide variant not provided [RCV002210137] Chr3:128904460 [GRCh38]
Chr3:128623303 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.357C>T (p.Gly119=) single nucleotide variant not provided [RCV002105045] Chr3:128895320 [GRCh38]
Chr3:128614163 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1141A>G (p.Met381Val) single nucleotide variant not provided [RCV002175176] Chr3:128904497 [GRCh38]
Chr3:128623340 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.615C>T (p.Tyr205=) single nucleotide variant not provided [RCV002149499] Chr3:128897692 [GRCh38]
Chr3:128616535 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+9A>G single nucleotide variant not provided [RCV002076408] Chr3:128893665 [GRCh38]
Chr3:128612508 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.162C>T (p.Phe54=) single nucleotide variant not provided [RCV002144956] Chr3:128884664 [GRCh38]
Chr3:128603507 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.809-7G>A single nucleotide variant not provided [RCV002150154] Chr3:128901269 [GRCh38]
Chr3:128620112 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-20C>T single nucleotide variant not provided [RCV002093852] Chr3:128893535 [GRCh38]
Chr3:128612378 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.744A>G (p.Glu248=) single nucleotide variant not provided [RCV002133153] Chr3:128899397 [GRCh38]
Chr3:128618240 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.54G>T (p.Arg18=) single nucleotide variant not provided [RCV002114410] Chr3:128879745 [GRCh38]
Chr3:128598588 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.876G>C (p.Gly292=) single nucleotide variant not provided [RCV002095411] Chr3:128901343 [GRCh38]
Chr3:128620186 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1101G>A (p.Leu367=) single nucleotide variant not provided [RCV002079353] Chr3:128904457 [GRCh38]
Chr3:128623300 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1788G>A (p.Glu596=) single nucleotide variant not provided [RCV002151807] Chr3:128912529 [GRCh38]
Chr3:128631372 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1182G>T (p.Val394=) single nucleotide variant ACAD9-related disorder [RCV004756371]|not provided [RCV002125623] Chr3:128906153 [GRCh38]
Chr3:128624996 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+13G>A single nucleotide variant not provided [RCV002085879] Chr3:128906262 [GRCh38]
Chr3:128625105 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1353G>A (p.Arg451=) single nucleotide variant not provided [RCV002189892] Chr3:128908259 [GRCh38]
Chr3:128627102 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.27C>T (p.Arg9=) single nucleotide variant not provided [RCV002170371] Chr3:128879718 [GRCh38]
Chr3:128598561 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-5T>G single nucleotide variant not provided [RCV002076590] Chr3:128902548 [GRCh38]
Chr3:128621391 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1575G>A (p.Glu525=) single nucleotide variant not provided [RCV002206578] Chr3:128910032 [GRCh38]
Chr3:128628875 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.693C>G (p.Val231=) single nucleotide variant not provided [RCV002172333] Chr3:128899346 [GRCh38]
Chr3:128618189 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.516G>A (p.Gly172=) single nucleotide variant not provided [RCV002151137] Chr3:128896498 [GRCh38]
Chr3:128615341 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-13C>T single nucleotide variant not provided [RCV002075432] Chr3:128896423 [GRCh38]
Chr3:128615266 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-9C>T single nucleotide variant not provided [RCV002096272] Chr3:128904053 [GRCh38]
Chr3:128622896 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1725T>C (p.Ala575=) single nucleotide variant not provided [RCV002092095] Chr3:128910773 [GRCh38]
Chr3:128629616 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1317G>A (p.Thr439=) single nucleotide variant not provided [RCV002214304]|not specified [RCV004700691] Chr3:128908223 [GRCh38]
Chr3:128627066 [GRCh37]
Chr3:3q21.3		 likely benign|conflicting interpretations of pathogenicity
NM_014049.5(ACAD9):c.1358+7G>A single nucleotide variant not provided [RCV002097227] Chr3:128908271 [GRCh38]
Chr3:128627114 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1527C>A (p.Gly509=) single nucleotide variant not provided [RCV002179161] Chr3:128909385 [GRCh38]
Chr3:128628228 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.592C>T (p.Leu198=) single nucleotide variant not provided [RCV002154285] Chr3:128897669 [GRCh38]
Chr3:128616512 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.210C>T (p.Phe70=) single nucleotide variant not provided [RCV002200027] Chr3:128884712 [GRCh38]
Chr3:128603555 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.417T>C (p.Thr139=) single nucleotide variant not provided [RCV002082357] Chr3:128895380 [GRCh38]
Chr3:128614223 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+10G>T single nucleotide variant not provided [RCV002179865] Chr3:128893666 [GRCh38]
Chr3:128612509 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1593G>A (p.Lys531=) single nucleotide variant not provided [RCV002179869] Chr3:128910050 [GRCh38]
Chr3:128628893 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+13_1692+17del microsatellite not provided [RCV002200911] Chr3:128910153..128910157 [GRCh38]
Chr3:128628996..128629000 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1860A>C (p.Thr620=) single nucleotide variant not provided [RCV002138926] Chr3:128912601 [GRCh38]
Chr3:128631444 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1009A>G (p.Ser337Gly) single nucleotide variant not provided [RCV002180860] Chr3:128904112 [GRCh38]
Chr3:128622955 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-15T>A single nucleotide variant not provided [RCV002163269] Chr3:128893540 [GRCh38]
Chr3:128612383 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-10G>A single nucleotide variant not provided [RCV002139585] Chr3:128910011 [GRCh38]
Chr3:128628854 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.648T>C (p.Asn216=) single nucleotide variant not provided [RCV002204095] Chr3:128899301 [GRCh38]
Chr3:128618144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1386A>C (p.Thr462=) single nucleotide variant not provided [RCV002198349] Chr3:128909000 [GRCh38]
Chr3:128627843 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.809-7_809-6del microsatellite not provided [RCV002120390] Chr3:128901266..128901267 [GRCh38]
Chr3:128620109..128620110 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-4G>A single nucleotide variant not provided [RCV002160770] Chr3:128902549 [GRCh38]
Chr3:128621392 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1800A>G (p.Lys600=) single nucleotide variant not provided [RCV002118597] Chr3:128912541 [GRCh38]
Chr3:128631384 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+9C>T single nucleotide variant not provided [RCV002183893] Chr3:128896545 [GRCh38]
Chr3:128615388 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1605C>T (p.Asn535=) single nucleotide variant not provided [RCV002140376] Chr3:128910062 [GRCh38]
Chr3:128628905 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.834C>T (p.Thr278=) single nucleotide variant not provided [RCV002162807] Chr3:128901301 [GRCh38]
Chr3:128620144 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1314G>C (p.Leu438=) single nucleotide variant not provided [RCV002162586] Chr3:128908220 [GRCh38]
Chr3:128627063 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-11G>T single nucleotide variant not provided [RCV002102063] Chr3:128896425 [GRCh38]
Chr3:128615268 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.292T>C (p.Leu98=) single nucleotide variant not provided [RCV002135803] Chr3:128893602 [GRCh38]
Chr3:128612445 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.375C>T (p.Tyr125=) single nucleotide variant not provided [RCV002104004] Chr3:128895338 [GRCh38]
Chr3:128614181 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1044G>A (p.Leu348=) single nucleotide variant not provided [RCV002183033] Chr3:128904400 [GRCh38]
Chr3:128623243 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+10G>A single nucleotide variant not provided [RCV002143067] Chr3:128904515 [GRCh38]
Chr3:128623358 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1641G>A (p.Leu547=) single nucleotide variant not provided [RCV002221140] Chr3:128910098 [GRCh38]
Chr3:128628941 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1410G>A (p.Arg470=) single nucleotide variant not provided [RCV002123589] Chr3:128909024 [GRCh38]
Chr3:128627867 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+19C>T single nucleotide variant not provided [RCV002199180] Chr3:128896555 [GRCh38]
Chr3:128615398 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.756T>C (p.Gly252=) single nucleotide variant not provided [RCV002139118] Chr3:128899409 [GRCh38]
Chr3:128618252 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+9C>T single nucleotide variant not provided [RCV002203929] Chr3:128908273 [GRCh38]
Chr3:128627116 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-8G>A single nucleotide variant not provided [RCV002178264] Chr3:128899279 [GRCh38]
Chr3:128618122 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-18C>T single nucleotide variant not provided [RCV002082665] Chr3:128908167 [GRCh38]
Chr3:128627010 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+10A>G single nucleotide variant not provided [RCV002219825] Chr3:128908274 [GRCh38]
Chr3:128627117 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.151-7T>C single nucleotide variant not provided [RCV002176790] Chr3:128884646 [GRCh38]
Chr3:128603489 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.565G>T (p.Ala189Ser) single nucleotide variant not provided [RCV003110420] Chr3:128897642 [GRCh38]
Chr3:128616485 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1486-7T>C single nucleotide variant not provided [RCV003115306] Chr3:128909337 [GRCh38]
Chr3:128628180 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1764G>A (p.Lys588=) single nucleotide variant not provided [RCV003116498] Chr3:128910812 [GRCh38]
Chr3:128629655 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128603476)_(128603609_?)del deletion not provided [RCV003116679] Chr3:128603476..128603609 [GRCh37]
Chr3:3q21.3		 pathogenic
NC_000003.11:g.(?_128615269)_(128629666_?)dup duplication not provided [RCV003116680] Chr3:128615269..128629666 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.889A>G (p.Met297Val) single nucleotide variant not provided [RCV003117071] Chr3:128902559 [GRCh38]
Chr3:128621402 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.395T>C (p.Ile132Thr) single nucleotide variant Inborn genetic diseases [RCV004604929]|not provided [RCV003118050] Chr3:128895358 [GRCh38]
Chr3:128614201 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.5G>A (p.Ser2Asn) single nucleotide variant not provided [RCV003115092] Chr3:128879696 [GRCh38]
Chr3:128598539 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1747_1756del (p.Leu583fs) deletion not provided [RCV003118996] Chr3:128910790..128910799 [GRCh38]
Chr3:128629633..128629642 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1693-1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003233014] Chr3:128910740 [GRCh38]
Chr3:128629583 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1337G>A (p.Arg446His) single nucleotide variant not provided [RCV002269793] Chr3:128908243 [GRCh38]
Chr3:128627086 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.803C>T (p.Ser268Phe) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002290211] Chr3:128899456 [GRCh38]
Chr3:128618299 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.898C>G (p.Leu300Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV002288273]|not provided [RCV003097762] Chr3:128902568 [GRCh38]
Chr3:128621411 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003469175]|not provided [RCV002262848] Chr3:128910052 [GRCh38]
Chr3:128628895 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1738C>G (p.Leu580Val) single nucleotide variant not provided [RCV003156709] Chr3:128910786 [GRCh38]
Chr3:128629629 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_014049.5(ACAD9):c.221T>A (p.Val74Glu) single nucleotide variant not provided [RCV002296294] Chr3:128884723 [GRCh38]
Chr3:128603566 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.800G>T (p.Gly267Val) single nucleotide variant not provided [RCV002301148] Chr3:128899453 [GRCh38]
Chr3:128618296 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.634-1G>A single nucleotide variant Mitochondrial complex I deficiency [RCV002302539] Chr3:128899286 [GRCh38]
Chr3:128618129 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1008C>G (p.Leu336=) single nucleotide variant not provided [RCV002815356] Chr3:128904111 [GRCh38]
Chr3:128622954 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1259G>A (p.Arg420His) single nucleotide variant Inborn genetic diseases [RCV003269306]|not provided [RCV002903755] Chr3:128906230 [GRCh38]
Chr3:128625073 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1486-9G>C single nucleotide variant not provided [RCV002613844] Chr3:128909335 [GRCh38]
Chr3:128628178 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.707G>T (p.Gly236Val) single nucleotide variant not provided [RCV003074853] Chr3:128899360 [GRCh38]
Chr3:128618203 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.346+14_346+15delinsTA indel not provided [RCV002861856] Chr3:128893670..128893671 [GRCh38]
Chr3:128612513..128612514 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.45T>C (p.Arg15=) single nucleotide variant not provided [RCV003033267] Chr3:128879736 [GRCh38]
Chr3:128598579 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3q21.3(chr3:128471824-128710382)x3 copy number gain not provided [RCV002475731] Chr3:128471824..128710382 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.882+8G>T single nucleotide variant not provided [RCV003013258] Chr3:128901357 [GRCh38]
Chr3:128620200 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1276G>T (p.Glu426Ter) single nucleotide variant not provided [RCV002842865] Chr3:128906247 [GRCh38]
Chr3:128625090 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.682A>G (p.Lys228Glu) single nucleotide variant not provided [RCV002909125] Chr3:128899335 [GRCh38]
Chr3:128618178 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1320T>G (p.Gly440=) single nucleotide variant not provided [RCV002858546] Chr3:128908226 [GRCh38]
Chr3:128627069 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+7C>G single nucleotide variant not provided [RCV002756498] Chr3:128896543 [GRCh38]
Chr3:128615386 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003225251]|not provided [RCV003076104] Chr3:128910093 [GRCh38]
Chr3:128628936 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_014049.5(ACAD9):c.883-8C>T single nucleotide variant not provided [RCV003013486] Chr3:128902545 [GRCh38]
Chr3:128621388 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.29C>T (p.Thr10Ile) single nucleotide variant not provided [RCV002615801] Chr3:128879720 [GRCh38]
Chr3:128598563 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.237T>C (p.Thr79=) single nucleotide variant not provided [RCV002909137] Chr3:128884739 [GRCh38]
Chr3:128603582 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+18G>C single nucleotide variant not provided [RCV002993671] Chr3:128910831 [GRCh38]
Chr3:128629674 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1421C>T (p.Ser474Phe) single nucleotide variant not provided [RCV003074041] Chr3:128909035 [GRCh38]
Chr3:128627878 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.899T>G (p.Leu300Arg) single nucleotide variant Inborn genetic diseases [RCV002682942] Chr3:128902569 [GRCh38]
Chr3:128621412 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1687C>T (p.His563Tyr) single nucleotide variant not provided [RCV002751478] Chr3:128910144 [GRCh38]
Chr3:128628987 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.808+11C>T single nucleotide variant not provided [RCV002751429] Chr3:128899472 [GRCh38]
Chr3:128618315 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-16C>T single nucleotide variant not provided [RCV003095758] Chr3:128902537 [GRCh38]
Chr3:128621380 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1643C>T (p.Ser548Leu) single nucleotide variant Inborn genetic diseases [RCV002685104] Chr3:128910100 [GRCh38]
Chr3:128628943 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.150+10G>C single nucleotide variant not provided [RCV003034017] Chr3:128879851 [GRCh38]
Chr3:128598694 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.623A>G (p.Asn208Ser) single nucleotide variant Inborn genetic diseases [RCV002944130]|not provided [RCV002972101] Chr3:128897700 [GRCh38]
Chr3:128616543 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1693-294T>A single nucleotide variant not provided [RCV002512234] Chr3:128910447 [GRCh38]
Chr3:128629290 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-2A>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003465865]|not provided [RCV002904496] Chr3:128908183 [GRCh38]
Chr3:128627026 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.984A>G (p.Thr328=) single nucleotide variant not provided [RCV002838689] Chr3:128904087 [GRCh38]
Chr3:128622930 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-18T>G single nucleotide variant not provided [RCV003097559] Chr3:128910723 [GRCh38]
Chr3:128629566 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485G>A (p.Ala495=) single nucleotide variant Inborn genetic diseases [RCV004067226]|not provided [RCV002947703] Chr3:128909099 [GRCh38]
Chr3:128627942 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.243G>A (p.Glu81=) single nucleotide variant not provided [RCV002615121] Chr3:128884745 [GRCh38]
Chr3:128603588 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1475_1476delinsGT (p.Pro492Arg) indel not provided [RCV002776216] Chr3:128909089..128909090 [GRCh38]
Chr3:128627932..128627933 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1258del (p.Arg420fs) deletion not provided [RCV003033650] Chr3:128906227 [GRCh38]
Chr3:128625070 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1636_1650dup (p.Ala550_Ser551insValLeuSerArgAla) duplication not provided [RCV002858227] Chr3:128910088..128910089 [GRCh38]
Chr3:128628931..128628932 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.306G>A (p.Lys102=) single nucleotide variant not provided [RCV002690982] Chr3:128893616 [GRCh38]
Chr3:128612459 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1131C>T (p.Ile377=) single nucleotide variant not provided [RCV003078362] Chr3:128904487 [GRCh38]
Chr3:128623330 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.77A>G (p.Asn26Ser) single nucleotide variant Inborn genetic diseases [RCV002620145]|not provided [RCV002620144] Chr3:128879768 [GRCh38]
Chr3:128598611 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.748G>T (p.Asp250Tyr) single nucleotide variant not provided [RCV002800531] Chr3:128899401 [GRCh38]
Chr3:128618244 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1823A>T (p.Lys608Met) single nucleotide variant not provided [RCV003039182] Chr3:128912564 [GRCh38]
Chr3:128631407 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1765+21del deletion not provided [RCV002871466] Chr3:128910830 [GRCh38]
Chr3:128629673 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1830C>T (p.Ala610=) single nucleotide variant not provided [RCV003039484] Chr3:128912571 [GRCh38]
Chr3:128631414 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+20G>A single nucleotide variant not provided [RCV003037723] Chr3:128910833 [GRCh38]
Chr3:128629676 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.755G>T (p.Gly252Val) single nucleotide variant not provided [RCV002705847] Chr3:128899408 [GRCh38]
Chr3:128618251 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.577C>T (p.Arg193Trp) single nucleotide variant ACAD9-related disorder [RCV003420390]|not provided [RCV002637933] Chr3:128897654 [GRCh38]
Chr3:128616497 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.911G>A (p.Arg304Gln) single nucleotide variant not provided [RCV002909656] Chr3:128902581 [GRCh38]
Chr3:128621424 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.447C>T (p.Gly149=) single nucleotide variant not provided [RCV002886283] Chr3:128895410 [GRCh38]
Chr3:128614253 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-13T>G single nucleotide variant not provided [RCV003080186] Chr3:128910728 [GRCh38]
Chr3:128629571 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1568T>C (p.Ile523Thr) single nucleotide variant not provided [RCV002659717] Chr3:128910025 [GRCh38]
Chr3:128628868 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1654C>T (p.Arg552Cys) single nucleotide variant not provided [RCV002999054] Chr3:128910111 [GRCh38]
Chr3:128628954 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.245-8C>T single nucleotide variant not provided [RCV002952655] Chr3:128893547 [GRCh38]
Chr3:128612390 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1120G>T (p.Asp374Tyr) single nucleotide variant not provided [RCV003037642] Chr3:128904476 [GRCh38]
Chr3:128623319 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.70A>G (p.Thr24Ala) single nucleotide variant not provided [RCV002569704] Chr3:128879761 [GRCh38]
Chr3:128598604 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.762C>T (p.Val254=) single nucleotide variant not provided [RCV002622350] Chr3:128899415 [GRCh38]
Chr3:128618258 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1385_1386del (p.Thr462fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV003465977]|not provided [RCV002592238] Chr3:128908997..128908998 [GRCh38]
Chr3:128627840..128627841 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.942G>C (p.Leu314=) single nucleotide variant not provided [RCV002636849] Chr3:128902612 [GRCh38]
Chr3:128621455 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-6C>T single nucleotide variant not provided [RCV002867080] Chr3:128902547 [GRCh38]
Chr3:128621390 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1843C>T (p.His615Tyr) single nucleotide variant not provided [RCV002735560] Chr3:128912584 [GRCh38]
Chr3:128631427 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.807C>T (p.Asn269=) single nucleotide variant not provided [RCV002923345] Chr3:128899460 [GRCh38]
Chr3:128618303 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003464600]|not provided [RCV002781273] Chr3:128912545..128912546 [GRCh38]
Chr3:128631388..128631389 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1652G>C (p.Ser551Thr) single nucleotide variant not provided [RCV003038464] Chr3:128910109 [GRCh38]
Chr3:128628952 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1357C>T (p.His453Tyr) single nucleotide variant not provided [RCV002998677] Chr3:128908263 [GRCh38]
Chr3:128627106 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.816A>G (p.Glu272=) single nucleotide variant not provided [RCV003055176] Chr3:128901283 [GRCh38]
Chr3:128620126 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1262T>C (p.Ile421Thr) single nucleotide variant Inborn genetic diseases [RCV002710671]|not provided [RCV002735199] Chr3:128906233 [GRCh38]
Chr3:128625076 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1857G>C (p.Arg619Ser) single nucleotide variant not provided [RCV002926804] Chr3:128912598 [GRCh38]
Chr3:128631441 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.883-10C>T single nucleotide variant not provided [RCV002785356] Chr3:128902543 [GRCh38]
Chr3:128621386 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.611A>G (p.His204Arg) single nucleotide variant not provided [RCV003079413] Chr3:128897688 [GRCh38]
Chr3:128616531 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.92_93dup (p.Thr32fs) microsatellite not provided [RCV002846282] Chr3:128879780..128879781 [GRCh38]
Chr3:128598623..128598624 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.379_380delinsCA (p.Arg127Gln) indel not provided [RCV003038221] Chr3:128895342..128895343 [GRCh38]
Chr3:128614185..128614186 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.244+20C>T single nucleotide variant not provided [RCV002780768] Chr3:128884766 [GRCh38]
Chr3:128603609 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346G>C (p.Gly116Arg) single nucleotide variant not provided [RCV002795731] Chr3:128893656 [GRCh38]
Chr3:128612499 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1663C>G (p.Arg555Gly) single nucleotide variant not provided [RCV002756754] Chr3:128910120 [GRCh38]
Chr3:128628963 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.402G>A (p.Met134Ile) single nucleotide variant not provided [RCV002636984] Chr3:128895365 [GRCh38]
Chr3:128614208 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.720C>G (p.Asp240Glu) single nucleotide variant not provided [RCV003077253] Chr3:128899373 [GRCh38]
Chr3:128618216 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.391A>T (p.Ile131Phe) single nucleotide variant not provided [RCV002745703] Chr3:128895354 [GRCh38]
Chr3:128614197 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.584G>A (p.Arg195Lys) single nucleotide variant not provided [RCV002596712] Chr3:128897661 [GRCh38]
Chr3:128616504 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.151-9T>C single nucleotide variant not provided [RCV002745268] Chr3:128884644 [GRCh38]
Chr3:128603487 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1826G>A (p.Arg609Gln) single nucleotide variant Inborn genetic diseases [RCV004070230]|not provided [RCV003056601] Chr3:128912567 [GRCh38]
Chr3:128631410 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1566CAT[3] (p.Ile523_Met524insIle) microsatellite not provided [RCV002918420] Chr3:128910022..128910023 [GRCh38]
Chr3:128628865..128628866 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.72C>T (p.Thr24=) single nucleotide variant not provided [RCV002700913] Chr3:128879763 [GRCh38]
Chr3:128598606 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-4A>G single nucleotide variant not provided [RCV003085906] Chr3:128909340 [GRCh38]
Chr3:128628183 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.17T>C (p.Leu6Pro) single nucleotide variant not provided [RCV003026162] Chr3:128879708 [GRCh38]
Chr3:128598551 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1851G>A (p.Leu617=) single nucleotide variant not provided [RCV002624886] Chr3:128912592 [GRCh38]
Chr3:128631435 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1235A>T (p.Tyr412Phe) single nucleotide variant Inborn genetic diseases [RCV002875118] Chr3:128906206 [GRCh38]
Chr3:128625049 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.714G>A (p.Val238=) single nucleotide variant not provided [RCV003024701] Chr3:128899367 [GRCh38]
Chr3:128618210 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-7T>C single nucleotide variant not provided [RCV003057792] Chr3:128912500 [GRCh38]
Chr3:128631343 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1668T>A (p.Ile556=) single nucleotide variant not provided [RCV002914802] Chr3:128910125 [GRCh38]
Chr3:128628968 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.633+3A>G single nucleotide variant not provided [RCV002663966] Chr3:128897713 [GRCh38]
Chr3:128616556 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1620G>A (p.Leu540=) single nucleotide variant not provided [RCV003040582] Chr3:128910077 [GRCh38]
Chr3:128628920 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-2A>C single nucleotide variant not provided [RCV002894862] Chr3:128910739 [GRCh38]
Chr3:128629582 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1485+4_1485+7dup duplication not provided [RCV002853403] Chr3:128909099..128909100 [GRCh38]
Chr3:128627942..128627943 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.6C>G (p.Ser2Arg) single nucleotide variant Inborn genetic diseases [RCV002850048] Chr3:128879697 [GRCh38]
Chr3:128598540 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1776_1784del (p.Glu592_Leu594del) deletion not provided [RCV002852839] Chr3:128912514..128912522 [GRCh38]
Chr3:128631357..128631365 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1333G>A (p.Gly445Ser) single nucleotide variant not provided [RCV003084655] Chr3:128908239 [GRCh38]
Chr3:128627082 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.669T>C (p.Phe223=) single nucleotide variant not provided [RCV002626447] Chr3:128899322 [GRCh38]
Chr3:128618165 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-15C>T single nucleotide variant not provided [RCV002876150] Chr3:128902538 [GRCh38]
Chr3:128621381 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs) deletion Mitochondrial complex I deficiency [RCV004587398]|not provided [RCV002928991] Chr3:128899394..128899397 [GRCh38]
Chr3:128618237..128618240 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1312C>A (p.Leu438Met) single nucleotide variant Inborn genetic diseases [RCV002955330] Chr3:128908218 [GRCh38]
Chr3:128627061 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1422C>T (p.Ser474=) single nucleotide variant not provided [RCV002701213] Chr3:128909036 [GRCh38]
Chr3:128627879 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.653G>A (p.Gly218Glu) single nucleotide variant not provided [RCV002594995] Chr3:128899306 [GRCh38]
Chr3:128618149 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.4A>G (p.Ser2Gly) single nucleotide variant not provided [RCV002766439] Chr3:128879695 [GRCh38]
Chr3:128598538 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.454-8T>C single nucleotide variant not provided [RCV003025516] Chr3:128896428 [GRCh38]
Chr3:128615271 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.740T>C (p.Val247Ala) single nucleotide variant not provided [RCV002933004] Chr3:128899393 [GRCh38]
Chr3:128618236 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.794T>C (p.Ile265Thr) single nucleotide variant Inborn genetic diseases [RCV002929678] Chr3:128899447 [GRCh38]
Chr3:128618290 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.338A>C (p.Glu113Ala) single nucleotide variant not provided [RCV003085496] Chr3:128893648 [GRCh38]
Chr3:128612491 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1671_1693-79delinsCTGAT indel not provided [RCV002954087] Chr3:128910128..128910662 [GRCh38]
Chr3:128628971..128629505 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003314042]|not provided [RCV002594169] Chr3:128906133 [GRCh38]
Chr3:128624976 [GRCh37]
Chr3:3q21.3		 pathogenic|uncertain significance
NM_014049.5(ACAD9):c.791G>A (p.Gly264Asp) single nucleotide variant not provided [RCV002985518] Chr3:128899444 [GRCh38]
Chr3:128618287 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1818T>A (p.Leu606=) single nucleotide variant not provided [RCV003041903] Chr3:128912559 [GRCh38]
Chr3:128631402 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1267C>T (p.Leu423Phe) single nucleotide variant not provided [RCV002766048] Chr3:128906238 [GRCh38]
Chr3:128625081 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.213G>A (p.Leu71=) single nucleotide variant not provided [RCV002626117] Chr3:128884715 [GRCh38]
Chr3:128603558 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1029+14A>C single nucleotide variant not provided [RCV003083769] Chr3:128904146 [GRCh38]
Chr3:128622989 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1297C>T (p.Arg433Trp) single nucleotide variant not provided [RCV002914931] Chr3:128908203 [GRCh38]
Chr3:128627046 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.79C>T (p.Arg27Trp) single nucleotide variant not provided [RCV003041585] Chr3:128879770 [GRCh38]
Chr3:128598613 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.453+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003465889]|not provided [RCV003005875] Chr3:128895417 [GRCh38]
Chr3:128614260 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.368C>G (p.Thr123Ser) single nucleotide variant not provided [RCV002741448] Chr3:128895331 [GRCh38]
Chr3:128614174 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1461T>C (p.His487=) single nucleotide variant not provided [RCV002851583] Chr3:128909075 [GRCh38]
Chr3:128627918 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+9A>G single nucleotide variant not provided [RCV002894341] Chr3:128910158 [GRCh38]
Chr3:128629001 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1661del (p.Ile554fs) deletion not provided [RCV003044418] Chr3:128910118 [GRCh38]
Chr3:128628961 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.951_954ATTG[1] (p.Ile319fs) microsatellite not provided [RCV003031952] Chr3:128902620..128902623 [GRCh38]
Chr3:128621463..128621466 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1564-4C>G single nucleotide variant not provided [RCV003064182] Chr3:128910017 [GRCh38]
Chr3:128628860 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.18C>G (p.Leu6=) single nucleotide variant not provided [RCV002717218] Chr3:128879709 [GRCh38]
Chr3:128598552 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-20T>C single nucleotide variant not provided [RCV002877351] Chr3:128912487 [GRCh38]
Chr3:128631330 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.288A>G (p.Glu96=) single nucleotide variant not provided [RCV002650406] Chr3:128893598 [GRCh38]
Chr3:128612441 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.330A>G (p.Gln110=) single nucleotide variant not provided [RCV002649680] Chr3:128893640 [GRCh38]
Chr3:128612483 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1385C>G (p.Thr462Arg) single nucleotide variant Inborn genetic diseases [RCV002769866] Chr3:128908999 [GRCh38]
Chr3:128627842 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.423C>G (p.Thr141=) single nucleotide variant not provided [RCV003029224] Chr3:128895386 [GRCh38]
Chr3:128614229 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.30C>G (p.Thr10=) single nucleotide variant not provided [RCV003088137] Chr3:128879721 [GRCh38]
Chr3:128598564 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1168G>T (p.Ala390Ser) single nucleotide variant not provided [RCV002715218] Chr3:128906139 [GRCh38]
Chr3:128624982 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.663T>C (p.Asn221=) single nucleotide variant not provided [RCV002806679] Chr3:128899316 [GRCh38]
Chr3:128618159 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1406G>A (p.Arg469Gln) single nucleotide variant not provided [RCV002933747] Chr3:128909020 [GRCh38]
Chr3:128627863 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.854T>A (p.Ile285Asn) single nucleotide variant not provided [RCV003060228] Chr3:128901321 [GRCh38]
Chr3:128620164 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.562G>A (p.Asp188Asn) single nucleotide variant not provided [RCV002628513] Chr3:128897639 [GRCh38]
Chr3:128616482 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.56G>T (p.Gly19Val) single nucleotide variant Inborn genetic diseases [RCV004073335]|not provided [RCV003087346] Chr3:128879747 [GRCh38]
Chr3:128598590 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.837G>C (p.Lys279Asn) single nucleotide variant not provided [RCV003086608] Chr3:128901304 [GRCh38]
Chr3:128620147 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.505C>T (p.Leu169=) single nucleotide variant not provided [RCV002933847] Chr3:128896487 [GRCh38]
Chr3:128615330 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.910C>T (p.Arg304Trp) single nucleotide variant not provided [RCV002578744] Chr3:128902580 [GRCh38]
Chr3:128621423 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1222A>G (p.Arg408Gly) single nucleotide variant not provided [RCV003090719] Chr3:128906193 [GRCh38]
Chr3:128625036 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1548G>A (p.Leu516=) single nucleotide variant not provided [RCV003060341] Chr3:128909406 [GRCh38]
Chr3:128628249 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1266C>T (p.Leu422=) single nucleotide variant not provided [RCV003087783] Chr3:128906237 [GRCh38]
Chr3:128625080 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.270A>G (p.Glu90=) single nucleotide variant not provided [RCV002834251] Chr3:128893580 [GRCh38]
Chr3:128612423 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.764C>G (p.Thr255Ser) single nucleotide variant not provided [RCV003011270] Chr3:128899417 [GRCh38]
Chr3:128618260 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1242C>A (p.Arg414=) single nucleotide variant not provided [RCV002899322] Chr3:128906213 [GRCh38]
Chr3:128625056 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1750_1753del (p.Gln585fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV004571182]|not provided [RCV002600276] Chr3:128910795..128910798 [GRCh38]
Chr3:128629638..128629641 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.1746C>A (p.Ser582Arg) single nucleotide variant not provided [RCV003090843] Chr3:128910794 [GRCh38]
Chr3:128629637 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1269C>T (p.Leu423=) single nucleotide variant not provided [RCV003044924] Chr3:128906240 [GRCh38]
Chr3:128625083 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-15A>G single nucleotide variant not provided [RCV003063160] Chr3:128908958 [GRCh38]
Chr3:128627801 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.453+12G>A single nucleotide variant not provided [RCV002792113] Chr3:128895428 [GRCh38]
Chr3:128614271 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.555-18A>T single nucleotide variant not provided [RCV002966302] Chr3:128897614 [GRCh38]
Chr3:128616457 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.862G>C (p.Glu288Gln) single nucleotide variant not provided [RCV002650681] Chr3:128901329 [GRCh38]
Chr3:128620172 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1807_1808insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTGTCCC (p.Gln603fs) insertion not provided [RCV002933647] Chr3:128912535..128912536 [GRCh38]
Chr3:128631378..128631379 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.860G>A (p.Gly287Glu) single nucleotide variant not provided [RCV002629833] Chr3:128901327 [GRCh38]
Chr3:128620170 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1340T>C (p.Ile447Thr) single nucleotide variant not provided [RCV002599742] Chr3:128908246 [GRCh38]
Chr3:128627089 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1358+18C>T single nucleotide variant not provided [RCV003090961] Chr3:128908282 [GRCh38]
Chr3:128627125 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1476_1477del (p.Leu494fs) deletion not provided [RCV002933795] Chr3:128909090..128909091 [GRCh38]
Chr3:128627933..128627934 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1765+18G>T single nucleotide variant not provided [RCV002580710] Chr3:128910831 [GRCh38]
Chr3:128629674 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-14T>G single nucleotide variant not provided [RCV003089733] Chr3:128902539 [GRCh38]
Chr3:128621382 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.525T>C (p.Ile175=) single nucleotide variant not provided [RCV003044898] Chr3:128896507 [GRCh38]
Chr3:128615350 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1324C>T (p.Gln442Ter) single nucleotide variant not provided [RCV003046729] Chr3:128908230 [GRCh38]
Chr3:128627073 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.245-16A>T single nucleotide variant not provided [RCV002633632] Chr3:128893539 [GRCh38]
Chr3:128612382 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1715G>C (p.Cys572Ser) single nucleotide variant not provided [RCV002654598]|not specified [RCV004700972] Chr3:128910763 [GRCh38]
Chr3:128629606 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.100C>T (p.Pro34Ser) single nucleotide variant Inborn genetic diseases [RCV004072028]|not provided [RCV002654636] Chr3:128879791 [GRCh38]
Chr3:128598634 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1058C>T (p.Ala353Val) single nucleotide variant not provided [RCV003069093] Chr3:128904414 [GRCh38]
Chr3:128623257 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1485+13_1485+16dup duplication not provided [RCV003067904] Chr3:128909111..128909112 [GRCh38]
Chr3:128627954..128627955 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.138del (p.Ile48fs) deletion not provided [RCV002583886] Chr3:128879829 [GRCh38]
Chr3:128598672 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1692+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003465804]|not provided [RCV002605739] Chr3:128910150 [GRCh38]
Chr3:128628993 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1564-14C>T single nucleotide variant not provided [RCV002634224] Chr3:128910007 [GRCh38]
Chr3:128628850 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.904A>G (p.Ser302Gly) single nucleotide variant not provided [RCV002604056] Chr3:128902574 [GRCh38]
Chr3:128621417 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.90G>T (p.Leu30=) single nucleotide variant not provided [RCV003049657] Chr3:128879781 [GRCh38]
Chr3:128598624 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+17A>G single nucleotide variant not provided [RCV002942286] Chr3:128901366 [GRCh38]
Chr3:128620209 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1116T>C (p.Phe372=) single nucleotide variant not provided [RCV002635878] Chr3:128904472 [GRCh38]
Chr3:128623315 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883G>A (p.Val295Met) single nucleotide variant not provided [RCV002633464] Chr3:128902553 [GRCh38]
Chr3:128621396 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV002654889] Chr3:128909387 [GRCh38]
Chr3:128628230 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1387G>A (p.Val463Ile) single nucleotide variant not provided [RCV003071765] Chr3:128909001 [GRCh38]
Chr3:128627844 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1766-8C>G single nucleotide variant not provided [RCV002606749] Chr3:128912499 [GRCh38]
Chr3:128631342 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+12C>T single nucleotide variant not provided [RCV003067272] Chr3:128906261 [GRCh38]
Chr3:128625104 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.876G>A (p.Gly292=) single nucleotide variant not provided [RCV002589959] Chr3:128901343 [GRCh38]
Chr3:128620186 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.361T>G (p.Ser121Ala) single nucleotide variant not provided [RCV003051424] Chr3:128895324 [GRCh38]
Chr3:128614167 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV003072345] Chr3:128879709 [GRCh38]
Chr3:128598552 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.517del (p.Glu173fs) deletion not provided [RCV002677017] Chr3:128896496 [GRCh38]
Chr3:128615339 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1664G>T (p.Arg555Leu) single nucleotide variant not provided [RCV003071409] Chr3:128910121 [GRCh38]
Chr3:128628964 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.634-14_634-13del deletion not provided [RCV002611071] Chr3:128899272..128899273 [GRCh38]
Chr3:128618115..128618116 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1303T>C (p.Tyr435His) single nucleotide variant not provided [RCV003072567] Chr3:128908209 [GRCh38]
Chr3:128627052 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1278+6T>C single nucleotide variant ACAD9-related disorder [RCV003943603]|not provided [RCV002942216]|not specified [RCV004526949] Chr3:128906255 [GRCh38]
Chr3:128625098 [GRCh37]
Chr3:3q21.3		 likely benign|uncertain significance
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV003225654] Chr3:128906151..128906154 [GRCh38]
Chr3:128624994..128624997 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003225653] Chr3:128906140 [GRCh38]
Chr3:128624983 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1132G>A (p.Glu378Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004763623]|Inborn genetic diseases [RCV003218131] Chr3:128904488 [GRCh38]
Chr3:128623331 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.200T>C (p.Ile67Thr) single nucleotide variant Inborn genetic diseases [RCV003181355] Chr3:128884702 [GRCh38]
Chr3:128603545 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003139550] Chr3:128879746 [GRCh38]
Chr3:128598589 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003139551] Chr3:128899446 [GRCh38]
Chr3:128618289 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003139552] Chr3:128909043 [GRCh38]
Chr3:128627886 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.244+3A>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003139553] Chr3:128884749 [GRCh38]
Chr3:128603592 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003139554] Chr3:128904393 [GRCh38]
Chr3:128623236 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys) indel Acyl-CoA dehydrogenase 9 deficiency [RCV003225695] Chr3:128908990..128908995 [GRCh38]
Chr3:128627833..128627838 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe) single nucleotide variant Mitochondrial complex I deficiency [RCV003324169] Chr3:128912546 [GRCh38]
Chr3:128631389 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1296C>T (p.Leu432=) single nucleotide variant not provided [RCV003666238] Chr3:128908202 [GRCh38]
Chr3:128627045 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1601C>T (p.Ala534Val) single nucleotide variant Inborn genetic diseases [RCV003341468] Chr3:128910058 [GRCh38]
Chr3:128628901 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys) single nucleotide variant ACAD9-related disorder [RCV003421190]|not provided [RCV003422519] Chr3:128910079 [GRCh38]
Chr3:128628922 [GRCh37]
Chr3:3q21.3		 likely pathogenic|uncertain significance
NM_014049.5(ACAD9):c.475G>A (p.Glu159Lys) single nucleotide variant Inborn genetic diseases [RCV003355283] Chr3:128896457 [GRCh38]
Chr3:128615300 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.330A>T (p.Gln110His) single nucleotide variant Inborn genetic diseases [RCV003369430] Chr3:128893640 [GRCh38]
Chr3:128612483 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.855C>T (p.Ile285=) single nucleotide variant not provided [RCV003569843] Chr3:128901322 [GRCh38]
Chr3:128620165 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-1G>A single nucleotide variant not provided [RCV003570553] Chr3:128908184 [GRCh38]
Chr3:128627027 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1029+7A>C single nucleotide variant not provided [RCV003570364] Chr3:128904139 [GRCh38]
Chr3:128622982 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+17C>T single nucleotide variant not provided [RCV003570349] Chr3:128908281 [GRCh38]
Chr3:128627124 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1803G>A (p.Val601=) single nucleotide variant not provided [RCV003543708] Chr3:128912544 [GRCh38]
Chr3:128631387 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.78C>T (p.Asn26=) single nucleotide variant not provided [RCV003875629] Chr3:128879769 [GRCh38]
Chr3:128598612 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1150-10C>T single nucleotide variant ACAD9-related disorder [RCV003893567]|not provided [RCV003874589] Chr3:128906111 [GRCh38]
Chr3:128624954 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.555-7T>C single nucleotide variant not provided [RCV003570542] Chr3:128897625 [GRCh38]
Chr3:128616468 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+14C>A single nucleotide variant not provided [RCV003570525] Chr3:128909435 [GRCh38]
Chr3:128628278 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1245dup (p.Leu416fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003466611] Chr3:128906215..128906216 [GRCh38]
Chr3:128625058..128625059 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.347-1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466625] Chr3:128895309 [GRCh38]
Chr3:128614152 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1293del (p.Leu432fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466650] Chr3:128908198 [GRCh38]
Chr3:128627041 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.379A>T (p.Arg127Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466596] Chr3:128895342 [GRCh38]
Chr3:128614185 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1518C>G (p.Tyr506Ter) single nucleotide variant not provided [RCV003543062] Chr3:128909376 [GRCh38]
Chr3:128628219 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1344_1347del (p.Thr449fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466576] Chr3:128908248..128908251 [GRCh38]
Chr3:128627091..128627094 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.719_721delinsCC (p.Asp240fs) indel Acyl-CoA dehydrogenase 9 deficiency [RCV003466590] Chr3:128899372..128899374 [GRCh38]
Chr3:128618215..128618217 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.347-1G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466636] Chr3:128895309 [GRCh38]
Chr3:128614152 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1359-104_1387del deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466581] Chr3:128908866..128908998 [GRCh38]
Chr3:128627709..128627841 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1477dup (p.Ser493fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003466599] Chr3:128909090..128909091 [GRCh38]
Chr3:128627933..128627934 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.346+1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466616] Chr3:128893657 [GRCh38]
Chr3:128612500 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1195C>T (p.Gln399Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466633] Chr3:128906166 [GRCh38]
Chr3:128625009 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.958+2T>C single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466634] Chr3:128902630 [GRCh38]
Chr3:128621473 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1423del (p.Leu475fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466575] Chr3:128909035 [GRCh38]
Chr3:128627878 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.477_495del (p.Glu159fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466594] Chr3:128896459..128896477 [GRCh38]
Chr3:128615302..128615320 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1312_1313del (p.Leu438fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466604] Chr3:128908218..128908219 [GRCh38]
Chr3:128627061..128627062 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.345T>A (p.Tyr115Ter) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466606] Chr3:128893655 [GRCh38]
Chr3:128612498 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1597del (p.Val533fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466630] Chr3:128910052 [GRCh38]
Chr3:128628895 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.5_30dup (p.Thr11fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003466638] Chr3:128879695..128879696 [GRCh38]
Chr3:128598538..128598539 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.150+1G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466641] Chr3:128879842 [GRCh38]
Chr3:128598685 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.454-1G>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466644] Chr3:128896435 [GRCh38]
Chr3:128615278 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1486-2A>G single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466621] Chr3:128909342 [GRCh38]
Chr3:128628185 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.326del (p.Leu109fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466623] Chr3:128893636 [GRCh38]
Chr3:128612479 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.206A>G (p.Gln69Arg) single nucleotide variant not provided [RCV003427345] Chr3:128884708 [GRCh38]
Chr3:128603551 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1564-51G>A single nucleotide variant not provided [RCV003427346] Chr3:128909970 [GRCh38]
Chr3:128628813 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1397_1398dup (p.Val467fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003466597] Chr3:128909010..128909011 [GRCh38]
Chr3:128627853..128627854 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1481_1482dup (p.Ala495fs) duplication Acyl-CoA dehydrogenase 9 deficiency [RCV003466605] Chr3:128909094..128909095 [GRCh38]
Chr3:128627937..128627938 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.209del (p.Phe70fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466626] Chr3:128884710 [GRCh38]
Chr3:128603553 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1765+2T>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466629]|not provided [RCV003689102] Chr3:128910815 [GRCh38]
Chr3:128629658 [GRCh37]
Chr3:3q21.3		 pathogenic|likely pathogenic
NM_014049.5(ACAD9):c.671_672del (p.Thr224fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466602] Chr3:128899324..128899325 [GRCh38]
Chr3:128618167..128618168 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1752_1753del (p.Gln585fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV003466607] Chr3:128910795..128910796 [GRCh38]
Chr3:128629638..128629639 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1012_1015del (p.Glu338fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV003466639] Chr3:128904114..128904117 [GRCh38]
Chr3:128622957..128622960 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.809-1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003466647] Chr3:128901275 [GRCh38]
Chr3:128620118 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1563+2T>G single nucleotide variant not provided [RCV003691821] Chr3:128909423 [GRCh38]
Chr3:128628266 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.594A>G (p.Leu198=) single nucleotide variant not provided [RCV003544341] Chr3:128897671 [GRCh38]
Chr3:128616514 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+11C>A single nucleotide variant not provided [RCV003688194] Chr3:128906260 [GRCh38]
Chr3:128625103 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV003695528] Chr3:128901298 [GRCh38]
Chr3:128620141 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-6T>C single nucleotide variant not provided [RCV003693129] Chr3:128909338 [GRCh38]
Chr3:128628181 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-15_1766-14del deletion not provided [RCV003688440] Chr3:128912492..128912493 [GRCh38]
Chr3:128631335..128631336 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1710C>A (p.Thr570=) single nucleotide variant not provided [RCV003661652] Chr3:128910758 [GRCh38]
Chr3:128629601 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.151-12T>C single nucleotide variant not provided [RCV003827038] Chr3:128884641 [GRCh38]
Chr3:128603484 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+15C>G single nucleotide variant not provided [RCV003740016] Chr3:128909436 [GRCh38]
Chr3:128628279 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-12C>T single nucleotide variant not provided [RCV003663017] Chr3:128910009 [GRCh38]
Chr3:128628852 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.946_947del (p.Lys316fs) deletion not provided [RCV003695761] Chr3:128902616..128902617 [GRCh38]
Chr3:128621459..128621460 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.774A>G (p.Lys258=) single nucleotide variant not provided [RCV003544743] Chr3:128899427 [GRCh38]
Chr3:128618270 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+20del deletion not provided [RCV003575588] Chr3:128906269 [GRCh38]
Chr3:128625112 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1308C>A (p.Ile436=) single nucleotide variant not provided [RCV003692340] Chr3:128908214 [GRCh38]
Chr3:128627057 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+19G>A single nucleotide variant not provided [RCV003740042] Chr3:128908283 [GRCh38]
Chr3:128627126 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.809-11A>G single nucleotide variant not provided [RCV003575745] Chr3:128901265 [GRCh38]
Chr3:128620108 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.708A>G (p.Gly236=) single nucleotide variant not provided [RCV003692386] Chr3:128899361 [GRCh38]
Chr3:128618204 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+2T>A single nucleotide variant not provided [RCV003694681] Chr3:128910151 [GRCh38]
Chr3:128628994 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1279-17T>C single nucleotide variant not provided [RCV003848978] Chr3:128908168 [GRCh38]
Chr3:128627011 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.909C>A (p.Gly303=) single nucleotide variant not provided [RCV003573087] Chr3:128902579 [GRCh38]
Chr3:128621422 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+12T>C single nucleotide variant not provided [RCV003662178] Chr3:128909111 [GRCh38]
Chr3:128627954 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1029+9G>A single nucleotide variant not provided [RCV003692859] Chr3:128904141 [GRCh38]
Chr3:128622984 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1030-14dup duplication not provided [RCV003740175] Chr3:128904366..128904367 [GRCh38]
Chr3:128623209..128623210 [GRCh37]
Chr3:3q21.3		 benign
NM_014049.5(ACAD9):c.1279-16A>G single nucleotide variant not provided [RCV003661124] Chr3:128908169 [GRCh38]
Chr3:128627012 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1152G>C (p.Val384=) single nucleotide variant not provided [RCV003578261] Chr3:128906123 [GRCh38]
Chr3:128624966 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1527C>G (p.Gly509=) single nucleotide variant not provided [RCV003713015] Chr3:128909385 [GRCh38]
Chr3:128628228 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+16A>T single nucleotide variant not provided [RCV003688196] Chr3:128906265 [GRCh38]
Chr3:128625108 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.555-6C>A single nucleotide variant not provided [RCV003714461] Chr3:128897626 [GRCh38]
Chr3:128616469 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.333C>T (p.Val111=) single nucleotide variant not provided [RCV003716439] Chr3:128893643 [GRCh38]
Chr3:128612486 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1089A>G (p.Thr363=) single nucleotide variant not provided [RCV003545055] Chr3:128904445 [GRCh38]
Chr3:128623288 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1416G>A (p.Arg472=) single nucleotide variant not provided [RCV003880496] Chr3:128909030 [GRCh38]
Chr3:128627873 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.883-13G>A single nucleotide variant not provided [RCV003738841] Chr3:128902540 [GRCh38]
Chr3:128621383 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.33G>T (p.Thr11=) single nucleotide variant not provided [RCV003738857] Chr3:128879724 [GRCh38]
Chr3:128598567 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+13G>A single nucleotide variant not provided [RCV003879307] Chr3:128908277 [GRCh38]
Chr3:128627120 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1150-16G>A single nucleotide variant not provided [RCV003662919] Chr3:128906105 [GRCh38]
Chr3:128624948 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.453+11T>C single nucleotide variant not provided [RCV003686520] Chr3:128895427 [GRCh38]
Chr3:128614270 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-16A>G single nucleotide variant not provided [RCV003716069] Chr3:128899271 [GRCh38]
Chr3:128618114 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV003877353] Chr3:128879700 [GRCh38]
Chr3:128598543 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+18G>A single nucleotide variant not provided [RCV003578163] Chr3:128901367 [GRCh38]
Chr3:128620210 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-20G>A single nucleotide variant not provided [RCV003660297] Chr3:128899267 [GRCh38]
Chr3:128618110 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+17_1278+18insT insertion not provided [RCV003575576] Chr3:128906266..128906267 [GRCh38]
Chr3:128625109..128625110 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+16C>T single nucleotide variant not provided [RCV003692349] Chr3:128901365 [GRCh38]
Chr3:128620208 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1230T>A (p.Tyr410Ter) single nucleotide variant not provided [RCV003695189] Chr3:128906201 [GRCh38]
Chr3:128625044 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1358+1G>T single nucleotide variant not provided [RCV003573438] Chr3:128908265 [GRCh38]
Chr3:128627108 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.958+16A>T single nucleotide variant not provided [RCV003575961] Chr3:128902644 [GRCh38]
Chr3:128621487 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1815C>T (p.Ile605=) single nucleotide variant not provided [RCV003739028] Chr3:128912556 [GRCh38]
Chr3:128631399 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003486299]|Mitochondrial complex I deficiency [RCV004765859] Chr3:128893603 [GRCh38]
Chr3:128612446 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.705T>C (p.Asp235=) single nucleotide variant not provided [RCV003545261] Chr3:128899358 [GRCh38]
Chr3:128618201 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-2A>G single nucleotide variant not provided [RCV003689343] Chr3:128893553 [GRCh38]
Chr3:128612396 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1692+13C>T single nucleotide variant not provided [RCV003578036] Chr3:128910162 [GRCh38]
Chr3:128629005 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.244+11T>C single nucleotide variant not provided [RCV003713302] Chr3:128884757 [GRCh38]
Chr3:128603600 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+14C>T single nucleotide variant not provided [RCV003688195] Chr3:128906263 [GRCh38]
Chr3:128625106 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1698C>G (p.Leu566=) single nucleotide variant not provided [RCV003689766] Chr3:128910746 [GRCh38]
Chr3:128629589 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+15C>G single nucleotide variant not provided [RCV003575931] Chr3:128893671 [GRCh38]
Chr3:128612514 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+16A>G single nucleotide variant not provided [RCV003692600] Chr3:128908280 [GRCh38]
Chr3:128627123 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.564T>C (p.Asp188=) single nucleotide variant not provided [RCV003691643] Chr3:128897641 [GRCh38]
Chr3:128616484 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.900C>T (p.Leu300=) single nucleotide variant not provided [RCV003688178] Chr3:128902570 [GRCh38]
Chr3:128621413 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.711A>G (p.Ser237=) single nucleotide variant not provided [RCV003713464] Chr3:128899364 [GRCh38]
Chr3:128618207 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.558G>A (p.Gly186=) single nucleotide variant not provided [RCV003574417] Chr3:128897635 [GRCh38]
Chr3:128616478 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.399C>T (p.Ser133=) single nucleotide variant not provided [RCV003879233] Chr3:128895362 [GRCh38]
Chr3:128614205 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+19G>A single nucleotide variant not provided [RCV003881837] Chr3:128879860 [GRCh38]
Chr3:128598703 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.453+19C>G single nucleotide variant not provided [RCV003686596] Chr3:128895435 [GRCh38]
Chr3:128614278 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-17G>T single nucleotide variant not provided [RCV003544089] Chr3:128893538 [GRCh38]
Chr3:128612381 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+18C>T single nucleotide variant not provided [RCV003575743] Chr3:128879859 [GRCh38]
Chr3:128598702 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-8C>T single nucleotide variant not provided [RCV003689524] Chr3:128912499 [GRCh38]
Chr3:128631342 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-7A>C single nucleotide variant not provided [RCV003545323] Chr3:128910014 [GRCh38]
Chr3:128628857 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.404_407del (p.Asp135fs) microsatellite not provided [RCV003691600] Chr3:128895363..128895366 [GRCh38]
Chr3:128614206..128614209 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.312A>G (p.Leu104=) single nucleotide variant not provided [RCV003550011] Chr3:128893622 [GRCh38]
Chr3:128612465 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1839T>C (p.Cys613=) single nucleotide variant not provided [RCV003697109] Chr3:128912580 [GRCh38]
Chr3:128631423 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-15C>A single nucleotide variant not provided [RCV003698182] Chr3:128910006 [GRCh38]
Chr3:128628849 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.5G>T (p.Ser2Ile) single nucleotide variant not provided [RCV003835514] Chr3:128879696 [GRCh38]
Chr3:128598539 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.882+15A>G single nucleotide variant not provided [RCV003697287] Chr3:128901364 [GRCh38]
Chr3:128620207 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1449G>A (p.Leu483=) single nucleotide variant not provided [RCV003665063] Chr3:128909063 [GRCh38]
Chr3:128627906 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-19G>A single nucleotide variant not provided [RCV003852098] Chr3:128909325 [GRCh38]
Chr3:128628168 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1150-14G>A single nucleotide variant not provided [RCV003726013] Chr3:128906107 [GRCh38]
Chr3:128624950 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1305C>T (p.Tyr435=) single nucleotide variant not provided [RCV003562006] Chr3:128908211 [GRCh38]
Chr3:128627054 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1797G>A (p.Lys599=) single nucleotide variant not provided [RCV003724294] Chr3:128912538 [GRCh38]
Chr3:128631381 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-11C>T single nucleotide variant not provided [RCV003740432] Chr3:128904051 [GRCh38]
Chr3:128622894 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-16C>T single nucleotide variant not provided [RCV003702654] Chr3:128908957 [GRCh38]
Chr3:128627800 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+20A>C single nucleotide variant not provided [RCV003725866] Chr3:128910169 [GRCh38]
Chr3:128629012 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.104del (p.Pro35fs) deletion not provided [RCV003723402] Chr3:128879794 [GRCh38]
Chr3:128598637 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.519G>A (p.Glu173=) single nucleotide variant not provided [RCV003703064] Chr3:128896501 [GRCh38]
Chr3:128615344 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1766-20TC[2] microsatellite not provided [RCV003561789] Chr3:128912487..128912488 [GRCh38]
Chr3:128631330..128631331 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1665C>G (p.Arg555=) single nucleotide variant not provided [RCV003549804] Chr3:128910122 [GRCh38]
Chr3:128628965 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-12C>T single nucleotide variant not provided [RCV003561820] Chr3:128910729 [GRCh38]
Chr3:128629572 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+1G>C single nucleotide variant not provided [RCV003580379] Chr3:128896537 [GRCh38]
Chr3:128615380 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.633+17A>G single nucleotide variant not provided [RCV003856554] Chr3:128897727 [GRCh38]
Chr3:128616570 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.347-19G>A single nucleotide variant not provided [RCV003726582] Chr3:128895291 [GRCh38]
Chr3:128614134 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1740C>T (p.Leu580=) single nucleotide variant not provided [RCV003667493] Chr3:128910788 [GRCh38]
Chr3:128629631 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.795T>C (p.Ile265=) single nucleotide variant not provided [RCV003839372] Chr3:128899448 [GRCh38]
Chr3:128618291 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+25_808+30del microsatellite not provided [RCV003558016] Chr3:128899479..128899484 [GRCh38]
Chr3:128618322..128618327 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+11T>G single nucleotide variant not provided [RCV003725832] Chr3:128910824 [GRCh38]
Chr3:128629667 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.870A>C (p.Gly290=) single nucleotide variant not provided [RCV003549551] Chr3:128901337 [GRCh38]
Chr3:128620180 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+10C>T single nucleotide variant not provided [RCV003702634] Chr3:128909431 [GRCh38]
Chr3:128628274 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+4_1765+7dup duplication not provided [RCV003672169] Chr3:128910813..128910814 [GRCh38]
Chr3:128629656..128629657 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.903C>T (p.Asn301=) single nucleotide variant not provided [RCV003560625] Chr3:128902573 [GRCh38]
Chr3:128621416 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.843T>C (p.Pro281=) single nucleotide variant ACAD9-related disorder [RCV003956510]|not provided [RCV003725118] Chr3:128901310 [GRCh38]
Chr3:128620153 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-14T>C single nucleotide variant not provided [RCV003669799] Chr3:128908959 [GRCh38]
Chr3:128627802 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.686_782dup (p.Asp261_Lys262insTer) duplication not provided [RCV003561813] Chr3:128899334..128899335 [GRCh38]
Chr3:128618177..128618178 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1765+13T>A single nucleotide variant not provided [RCV003837436] Chr3:128910826 [GRCh38]
Chr3:128629669 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-18T>C single nucleotide variant not provided [RCV003740456] Chr3:128910723 [GRCh38]
Chr3:128629566 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+14C>T single nucleotide variant not provided [RCV003855049] Chr3:128910827 [GRCh38]
Chr3:128629670 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1425G>C (p.Leu475=) single nucleotide variant not provided [RCV003717811] Chr3:128909039 [GRCh38]
Chr3:128627882 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+19G>C single nucleotide variant not provided [RCV003665697] Chr3:128909440 [GRCh38]
Chr3:128628283 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-14_959-13del microsatellite not provided [RCV003816341] Chr3:128904046..128904047 [GRCh38]
Chr3:128622889..128622890 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+9G>A single nucleotide variant not provided [RCV003700426] Chr3:128909430 [GRCh38]
Chr3:128628273 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+18G>C single nucleotide variant not provided [RCV003671789] Chr3:128909117 [GRCh38]
Chr3:128627960 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+13T>C single nucleotide variant not provided [RCV003699961] Chr3:128899474 [GRCh38]
Chr3:128618317 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1665C>T (p.Arg555=) single nucleotide variant not provided [RCV003668133] Chr3:128910122 [GRCh38]
Chr3:128628965 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.809-11A>T single nucleotide variant not provided [RCV003579748] Chr3:128901265 [GRCh38]
Chr3:128620108 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1542A>G (p.Thr514=) single nucleotide variant not provided [RCV003671898] Chr3:128909400 [GRCh38]
Chr3:128628243 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.347-10T>C single nucleotide variant not provided [RCV003702299] Chr3:128895300 [GRCh38]
Chr3:128614143 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1545G>A (p.Leu515=) single nucleotide variant not provided [RCV003663790] Chr3:128909403 [GRCh38]
Chr3:128628246 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1833T>C (p.Tyr611=) single nucleotide variant not provided [RCV003717822] Chr3:128912574 [GRCh38]
Chr3:128631417 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-16G>T single nucleotide variant not provided [RCV003855470] Chr3:128910005 [GRCh38]
Chr3:128628848 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.346+16A>G single nucleotide variant not provided [RCV003557617] Chr3:128893672 [GRCh38]
Chr3:128612515 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-7T>G single nucleotide variant not provided [RCV003723452] Chr3:128896429 [GRCh38]
Chr3:128615272 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-18C>T single nucleotide variant not provided [RCV003672385] Chr3:128899269 [GRCh38]
Chr3:128618112 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.276A>G (p.Lys92=) single nucleotide variant not provided [RCV003849390] Chr3:128893586 [GRCh38]
Chr3:128612429 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.882+20C>G single nucleotide variant not provided [RCV003702158] Chr3:128901369 [GRCh38]
Chr3:128620212 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+10T>C single nucleotide variant not provided [RCV003832487] Chr3:128899471 [GRCh38]
Chr3:128618314 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.582C>T (p.Ser194=) single nucleotide variant not provided [RCV003580731] Chr3:128897659 [GRCh38]
Chr3:128616502 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-18T>C single nucleotide variant not provided [RCV003697949] Chr3:128896418 [GRCh38]
Chr3:128615261 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1632_1692+6del deletion not provided [RCV003854988] Chr3:128910088..128910154 [GRCh38]
Chr3:128628931..128628997 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.633+11T>C single nucleotide variant not provided [RCV003700855] Chr3:128897721 [GRCh38]
Chr3:128616564 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1350C>T (p.Thr450=) single nucleotide variant not provided [RCV003579914] Chr3:128908256 [GRCh38]
Chr3:128627099 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+12C>T single nucleotide variant not provided [RCV003847477] Chr3:128899473 [GRCh38]
Chr3:128618316 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-19G>A single nucleotide variant not provided [RCV003728502] Chr3:128908954 [GRCh38]
Chr3:128627797 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-4A>G single nucleotide variant not provided [RCV003678641] Chr3:128908181 [GRCh38]
Chr3:128627024 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1845C>T (p.His615=) single nucleotide variant not provided [RCV003567013] Chr3:128912586 [GRCh38]
Chr3:128631429 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+12C>G single nucleotide variant not provided [RCV003562439] Chr3:128909433 [GRCh38]
Chr3:128628276 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+7C>T single nucleotide variant not provided [RCV003670798] Chr3:128896543 [GRCh38]
Chr3:128615386 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+17_150+27dup duplication not provided [RCV003728366] Chr3:128879856..128879857 [GRCh38]
Chr3:128598699..128598700 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1470G>T (p.Val490=) single nucleotide variant not provided [RCV003552503] Chr3:128909084 [GRCh38]
Chr3:128627927 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+17C>G single nucleotide variant not provided [RCV003711229] Chr3:128906266 [GRCh38]
Chr3:128625109 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1029+13G>A single nucleotide variant not provided [RCV003550628] Chr3:128904145 [GRCh38]
Chr3:128622988 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1486-10T>G single nucleotide variant not provided [RCV003563787] Chr3:128909334 [GRCh38]
Chr3:128628177 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.633+16C>T single nucleotide variant not provided [RCV003843255] Chr3:128897726 [GRCh38]
Chr3:128616569 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1329T>C (p.His443=) single nucleotide variant not provided [RCV003680334] Chr3:128908235 [GRCh38]
Chr3:128627078 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.347-11A>C single nucleotide variant not provided [RCV003567526] Chr3:128895299 [GRCh38]
Chr3:128614142 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1545G>T (p.Leu515=) single nucleotide variant not provided [RCV003555398] Chr3:128909403 [GRCh38]
Chr3:128628246 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1608C>T (p.Ile536=) single nucleotide variant not provided [RCV003566398] Chr3:128910065 [GRCh38]
Chr3:128628908 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1320T>A (p.Gly440=) single nucleotide variant not provided [RCV003846755] Chr3:128908226 [GRCh38]
Chr3:128627069 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+13C>T single nucleotide variant not provided [RCV003864244] Chr3:128879854 [GRCh38]
Chr3:128598697 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.735C>T (p.Phe245=) single nucleotide variant not provided [RCV003823838] Chr3:128899388 [GRCh38]
Chr3:128618231 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1311C>T (p.Ala437=) single nucleotide variant not provided [RCV003553638] Chr3:128908217 [GRCh38]
Chr3:128627060 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1358+8C>T single nucleotide variant not provided [RCV003552757] Chr3:128908272 [GRCh38]
Chr3:128627115 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1030-1G>C single nucleotide variant not provided [RCV003680510] Chr3:128904385 [GRCh38]
Chr3:128623228 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.958+12dup duplication not provided [RCV003564483] Chr3:128902639..128902640 [GRCh38]
Chr3:128621482..128621483 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+19A>G single nucleotide variant not provided [RCV003853020] Chr3:128906268 [GRCh38]
Chr3:128625111 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-11G>C single nucleotide variant not provided [RCV003556775] Chr3:128896425 [GRCh38]
Chr3:128615268 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.753T>C (p.Phe251=) single nucleotide variant not provided [RCV003818675] Chr3:128899406 [GRCh38]
Chr3:128618249 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.39G>C (p.Ala13=) single nucleotide variant not provided [RCV003562773] Chr3:128879730 [GRCh38]
Chr3:128598573 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.573A>G (p.Ser191=) single nucleotide variant not provided [RCV003706873] Chr3:128897650 [GRCh38]
Chr3:128616493 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.633+12del deletion not provided [RCV003729640] Chr3:128897721 [GRCh38]
Chr3:128616564 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+12C>T single nucleotide variant not provided [RCV003864641] Chr3:128909433 [GRCh38]
Chr3:128628276 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+8_1485+11del deletion not provided [RCV003845014] Chr3:128909107..128909110 [GRCh38]
Chr3:128627950..128627953 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.771G>A (p.Gly257=) single nucleotide variant not provided [RCV003680883] Chr3:128899424 [GRCh38]
Chr3:128618267 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.432G>T (p.Ala144=) single nucleotide variant not provided [RCV003682130] Chr3:128895395 [GRCh38]
Chr3:128614238 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-20G>A single nucleotide variant not provided [RCV003555533] Chr3:128908953 [GRCh38]
Chr3:128627796 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1053G>A (p.Gln351=) single nucleotide variant not provided [RCV003711651] Chr3:128904409 [GRCh38]
Chr3:128623252 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.808+15T>G single nucleotide variant not provided [RCV003555762] Chr3:128899476 [GRCh38]
Chr3:128618319 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-6T>C single nucleotide variant not provided [RCV003722333] Chr3:128910735 [GRCh38]
Chr3:128629578 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.117C>T (p.Phe39=) single nucleotide variant not provided [RCV003719459] Chr3:128879808 [GRCh38]
Chr3:128598651 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV003858246] Chr3:128879739 [GRCh38]
Chr3:128598582 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-6C>T single nucleotide variant not provided [RCV003706567] Chr3:128899281 [GRCh38]
Chr3:128618124 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.543G>A (p.Thr181=) single nucleotide variant not provided [RCV003737624] Chr3:128896525 [GRCh38]
Chr3:128615368 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.79C>A (p.Arg27=) single nucleotide variant not provided [RCV003735598] Chr3:128879770 [GRCh38]
Chr3:128598613 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1803G>C (p.Val601=) single nucleotide variant ACAD9-related disorder [RCV003948985]|not provided [RCV003733579] Chr3:128912544 [GRCh38]
Chr3:128631387 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+13T>G single nucleotide variant not provided [RCV003730071] Chr3:128910826 [GRCh38]
Chr3:128629669 [GRCh37]
Chr3:3q21.3		 likely benign
GRCh37/hg19 3q21.3(chr3:128471823-128710382)x3 copy number gain not specified [RCV003986438] Chr3:128471823..128710382 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1506G>A (p.Glu502=) single nucleotide variant not provided [RCV003550860] Chr3:128909364 [GRCh38]
Chr3:128628207 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-11G>A single nucleotide variant not provided [RCV003736107] Chr3:128896425 [GRCh38]
Chr3:128615268 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1665C>A (p.Arg555=) single nucleotide variant not provided [RCV003719546] Chr3:128910122 [GRCh38]
Chr3:128628965 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1485+15C>T single nucleotide variant not provided [RCV003679721] Chr3:128909114 [GRCh38]
Chr3:128627957 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1483dup (p.Ala495fs) duplication not provided [RCV003567611] Chr3:128909096..128909097 [GRCh38]
Chr3:128627939..128627940 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.279C>T (p.Ile93=) single nucleotide variant not provided [RCV003737992] Chr3:128893589 [GRCh38]
Chr3:128612432 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1121del (p.Asp374fs) deletion not provided [RCV003711135] Chr3:128904477 [GRCh38]
Chr3:128623320 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.633+7T>C single nucleotide variant not provided [RCV003720160] Chr3:128897717 [GRCh38]
Chr3:128616560 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.783T>C (p.Asp261=) single nucleotide variant not provided [RCV003563064] Chr3:128899436 [GRCh38]
Chr3:128618279 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+1G>A single nucleotide variant not provided [RCV003565851] Chr3:128904506 [GRCh38]
Chr3:128623349 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.207G>A (p.Gln69=) single nucleotide variant not provided [RCV003865345] Chr3:128884709 [GRCh38]
Chr3:128603552 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.245-10C>G single nucleotide variant not provided [RCV003865402] Chr3:128893545 [GRCh38]
Chr3:128612388 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.591A>G (p.Thr197=) single nucleotide variant not provided [RCV003722833] Chr3:128897668 [GRCh38]
Chr3:128616511 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1030-8C>T single nucleotide variant not provided [RCV003845081] Chr3:128904378 [GRCh38]
Chr3:128623221 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-13T>C single nucleotide variant not provided [RCV003737382] Chr3:128899274 [GRCh38]
Chr3:128618117 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1149+16C>T single nucleotide variant not provided [RCV003722988] Chr3:128904521 [GRCh38]
Chr3:128623364 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1005G>A (p.Arg335=) single nucleotide variant not provided [RCV003678773] Chr3:128904108 [GRCh38]
Chr3:128622951 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+15A>G single nucleotide variant not provided [RCV003721838] Chr3:128896551 [GRCh38]
Chr3:128615394 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-11T>C single nucleotide variant not provided [RCV003722199] Chr3:128910010 [GRCh38]
Chr3:128628853 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1278+13G>T single nucleotide variant not provided [RCV003681425] Chr3:128906262 [GRCh38]
Chr3:128625105 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.81G>A (p.Arg27=) single nucleotide variant not provided [RCV003737713] Chr3:128879772 [GRCh38]
Chr3:128598615 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1473C>T (p.His491=) single nucleotide variant not provided [RCV003721812] Chr3:128909087 [GRCh38]
Chr3:128627930 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.84G>T (p.Arg28=) single nucleotide variant not provided [RCV003552717] Chr3:128879775 [GRCh38]
Chr3:128598618 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1042C>T (p.Leu348=) single nucleotide variant not provided [RCV003721992] Chr3:128904398 [GRCh38]
Chr3:128623241 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1740C>G (p.Leu580=) single nucleotide variant not provided [RCV003857565] Chr3:128910788 [GRCh38]
Chr3:128629631 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1041A>G (p.Ala347=) single nucleotide variant not provided [RCV003552885] Chr3:128904397 [GRCh38]
Chr3:128623240 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1279-10dup duplication not provided [RCV003866730] Chr3:128908174..128908175 [GRCh38]
Chr3:128627017..128627018 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1359-1G>A single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004573276]|not provided [RCV003734583] Chr3:128908972 [GRCh38]
Chr3:128627815 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1693-19C>G single nucleotide variant not provided [RCV003734766] Chr3:128910722 [GRCh38]
Chr3:128629565 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.454-20T>G single nucleotide variant not provided [RCV003568466] Chr3:128896416 [GRCh38]
Chr3:128615259 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1563+18G>A single nucleotide variant not provided [RCV003681048] Chr3:128909439 [GRCh38]
Chr3:128628282 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1632G>T (p.Thr544=) single nucleotide variant not provided [RCV003718748] Chr3:128910089 [GRCh38]
Chr3:128628932 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1459_1469del (p.His487fs) deletion not provided [RCV003552502] Chr3:128909073..128909083 [GRCh38]
Chr3:128627916..128627926 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.245-11C>T single nucleotide variant not provided [RCV003823300] Chr3:128893544 [GRCh38]
Chr3:128612387 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.150+12C>T single nucleotide variant not provided [RCV003728133] Chr3:128879853 [GRCh38]
Chr3:128598696 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1029+1G>A single nucleotide variant not provided [RCV003564401] Chr3:128904133 [GRCh38]
Chr3:128622976 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1212G>A (p.Leu404=) single nucleotide variant not provided [RCV003819314] Chr3:128906183 [GRCh38]
Chr3:128625026 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1692+11C>T single nucleotide variant not provided [RCV003676991] Chr3:128910160 [GRCh38]
Chr3:128629003 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.554+8T>A single nucleotide variant not provided [RCV003551687] Chr3:128896544 [GRCh38]
Chr3:128615387 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.4(ACAD9):c.151-2A>G single nucleotide variant not provided [RCV003556293] Chr3:128884651 [GRCh38]
Chr3:128603494 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.4(ACAD9):c.1A>G single nucleotide variant not provided [RCV003556294] Chr3:128879692 [GRCh38]
Chr3:128598535 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1692+13C>A single nucleotide variant not provided [RCV003564821] Chr3:128910162 [GRCh38]
Chr3:128629005 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1564-16G>C single nucleotide variant not provided [RCV003677237] Chr3:128910005 [GRCh38]
Chr3:128628848 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.570C>T (p.Ala190=) single nucleotide variant not provided [RCV003846426] Chr3:128897647 [GRCh38]
Chr3:128616490 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1236C>G (p.Tyr412Ter) single nucleotide variant not provided [RCV003677236] Chr3:128906207 [GRCh38]
Chr3:128625050 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.958+21del deletion not provided [RCV003861707] Chr3:128902648 [GRCh38]
Chr3:128621491 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.54G>A (p.Arg18=) single nucleotide variant not provided [RCV003681591] Chr3:128879745 [GRCh38]
Chr3:128598588 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.959-15T>A single nucleotide variant not provided [RCV003727488] Chr3:128904047 [GRCh38]
Chr3:128622890 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1780C>T (p.Leu594=) single nucleotide variant not provided [RCV003704432] Chr3:128912521 [GRCh38]
Chr3:128631364 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1765+16T>C single nucleotide variant not provided [RCV003565310] Chr3:128910829 [GRCh38]
Chr3:128629672 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.524T>C (p.Ile175Thr) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV003990018] Chr3:128896506 [GRCh38]
Chr3:128615349 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.-10A>T single nucleotide variant ACAD9-related disorder [RCV003944773] Chr3:128879682 [GRCh38]
Chr3:128598525 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1693-234G>A single nucleotide variant not provided [RCV003887003] Chr3:128910507 [GRCh38]
Chr3:128629350 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.634-9T>C single nucleotide variant ACAD9-related disorder [RCV003904370] Chr3:128899278 [GRCh38]
Chr3:128618121 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1204G>A (p.Gly402Arg) single nucleotide variant not specified [RCV004527161] Chr3:128906175 [GRCh38]
Chr3:128625018 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.423C>T (p.Thr141=) single nucleotide variant not provided [RCV003887085] Chr3:128895386 [GRCh38]
Chr3:128614229 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1203C>G (p.Leu401=) single nucleotide variant ACAD9-related disorder [RCV003913905] Chr3:128906174 [GRCh38]
Chr3:128625017 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1276G>A (p.Glu426Lys) single nucleotide variant Inborn genetic diseases [RCV004434017] Chr3:128906247 [GRCh38]
Chr3:128625090 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1693-266G>C single nucleotide variant not provided [RCV004547034] Chr3:128910475 [GRCh38]
Chr3:128629318 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1466T>C (p.Val489Ala) single nucleotide variant Inborn genetic diseases [RCV004434024] Chr3:128909080 [GRCh38]
Chr3:128627923 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.431C>T (p.Ala144Val) single nucleotide variant Inborn genetic diseases [RCV004600105] Chr3:128895394 [GRCh38]
Chr3:128614237 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_128631330)_(128631450_?)del deletion not provided [RCV004582296] Chr3:128631330..128631450 [GRCh37]
Chr3:3q21.3		 pathogenic
NC_000003.11:g.(?_128627018)_(128629666_?)dup duplication not provided [RCV004582298] Chr3:128627018..128629666 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NC_000003.11:g.(?_128629574)_(128629666_?)del deletion not provided [RCV004582295] Chr3:128629574..128629666 [GRCh37]
Chr3:3q21.3		 pathogenic
NC_000003.11:g.(?_128614133)_(128615399_?)del deletion not provided [RCV004582297] Chr3:128614133..128615399 [GRCh37]
Chr3:3q21.3		 pathogenic
NM_014049.5(ACAD9):c.1232C>T (p.Pro411Leu) single nucleotide variant Inborn genetic diseases [RCV004600096] Chr3:128906203 [GRCh38]
Chr3:128625046 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1030-2A>T single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004573789] Chr3:128904384 [GRCh38]
Chr3:128623227 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1799_1800del (p.Lys600fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV004573748] Chr3:128912539..128912540 [GRCh38]
Chr3:128631382..128631383 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1690G>A (p.Glu564Lys) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004573815] Chr3:128910147 [GRCh38]
Chr3:128628990 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1803_1804del (p.Ser602fs) microsatellite Acyl-CoA dehydrogenase 9 deficiency [RCV004573563] Chr3:128912542..128912543 [GRCh38]
Chr3:128631385..128631386 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1319del (p.Gly440fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV004574716] Chr3:128908223 [GRCh38]
Chr3:128627066 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.215del (p.Gly72fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV004573689] Chr3:128884715 [GRCh38]
Chr3:128603558 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1386del (p.Val463fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV004573805] Chr3:128909000 [GRCh38]
Chr3:128627843 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.658G>C (p.Ala220Pro) single nucleotide variant Acyl-CoA dehydrogenase 9 deficiency [RCV004595292] Chr3:128899311 [GRCh38]
Chr3:128618154 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1692+185_1692+188del microsatellite Inborn genetic diseases [RCV004600123] Chr3:128910330..128910333 [GRCh38]
Chr3:128629173..128629176 [GRCh37]
Chr3:3q21.3		 likely benign
NM_014049.5(ACAD9):c.1492_1501del (p.Ala498fs) deletion Acyl-CoA dehydrogenase 9 deficiency [RCV004573826] Chr3:128909347..128909356 [GRCh38]
Chr3:128628190..128628199 [GRCh37]
Chr3:3q21.3		 likely pathogenic
NM_014049.5(ACAD9):c.1676G>A (p.Arg559His) single nucleotide variant not specified [RCV004700067] Chr3:128910133 [GRCh38]
Chr3:128628976 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1564A>G (p.Thr522Ala) single nucleotide variant ACAD9-related disorder [RCV004756640] Chr3:128910021 [GRCh38]
Chr3:128628864 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1817T>A (p.Leu606His) single nucleotide variant not specified [RCV004766555] Chr3:128912558 [GRCh38]
Chr3:128631401 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.737T>C (p.Ile246Thr) single nucleotide variant not specified [RCV004766837] Chr3:128899390 [GRCh38]
Chr3:128618233 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_014049.5(ACAD9):c.1071G>C (p.Glu357Asp) single nucleotide variant not provided [RCV004770501] Chr3:128904427 [GRCh38]
Chr3:128623270 [GRCh37]
Chr3:3q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4502
Count of miRNA genes:1006
Interacting mature miRNAs:1223
Transcripts:ENST00000308982, ENST00000505192, ENST00000505602, ENST00000505867, ENST00000508971, ENST00000511227, ENST00000511325, ENST00000511526, ENST00000512801, ENST00000514336, ENST00000514643, ENST00000515429
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597101429GWAS1197503_Hprotein measurement QTL GWAS1197503 (human)2e-08protein measurement3128882812128882813Human
597248461GWAS1344535_Hlymphocyte:monocyte ratio QTL GWAS1344535 (human)5e-08leukocyte quantity (VT:0000217)3128890859128890860Human
597210375GWAS1306449_Hprotein measurement QTL GWAS1306449 (human)7e-09protein measurement3128882812128882813Human
597353685GWAS1449759_Hbody height QTL GWAS1449759 (human)4e-10body height (VT:0001253)body height (CMO:0000106)3128908178128908179Human

Markers in Region
D3S1498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,618,288 - 128,618,431UniSTSGRCh37
Build 363130,100,978 - 130,101,121RGDNCBI36
Celera3127,050,683 - 127,050,830RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,005,526 - 126,005,671UniSTS
SHGC-111168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,606,707 - 128,607,019UniSTSGRCh37
Build 363130,089,397 - 130,089,709RGDNCBI36
Celera3127,038,873 - 127,039,185RGD
Cytogenetic Map3q21.3UniSTS
HuRef3125,993,946 - 125,994,258UniSTS
TNG Radiation Hybrid Map354748.0UniSTS
ACAD9_1898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,631,361 - 128,632,150UniSTSGRCh37
Build 363130,114,051 - 130,114,840RGDNCBI36
Celera3127,063,764 - 127,064,553RGD
HuRef3126,018,605 - 126,019,394UniSTS
STS-AA024661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,631,574 - 128,631,753UniSTSGRCh37
GRCh373128,631,716 - 128,631,915UniSTSGRCh37
Build 363130,114,264 - 130,114,443RGDNCBI36
Celera3127,063,977 - 127,064,156RGD
Celera3127,064,119 - 127,064,318UniSTS
Cytogenetic Map3q21.3UniSTS
HuRef3126,018,818 - 126,018,997UniSTS
HuRef3126,018,960 - 126,019,159UniSTS
TNG Radiation Hybrid Map354775.0UniSTS
GeneMap99-GB4 RH Map3459.01UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
STS-AA024661  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21.3UniSTS
GeneMap99-GB4 RH Map3437.99UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA630022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000308982   ⟹   ENSP00000312618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,620 - 128,913,114 (+)Ensembl
Ensembl Acc Id: ENST00000505192   ⟹   ENSP00000426277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,623 - 128,908,624 (+)Ensembl
Ensembl Acc Id: ENST00000505602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,596 - 128,884,689 (+)Ensembl
Ensembl Acc Id: ENST00000505867   ⟹   ENSP00000425346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,646 - 128,913,014 (+)Ensembl
Ensembl Acc Id: ENST00000508971   ⟹   ENSP00000422683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,899,365 - 128,916,067 (+)Ensembl
Ensembl Acc Id: ENST00000511227   ⟹   ENSP00000425226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,623 - 128,912,927 (+)Ensembl
Ensembl Acc Id: ENST00000511325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,614 - 128,913,100 (+)Ensembl
Ensembl Acc Id: ENST00000511526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,897,653 - 128,913,104 (+)Ensembl
Ensembl Acc Id: ENST00000512801   ⟹   ENSP00000427283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,620 - 128,899,339 (+)Ensembl
Ensembl Acc Id: ENST00000514336   ⟹   ENSP00000423758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,629 - 128,896,466 (+)Ensembl
Ensembl Acc Id: ENST00000514643   ⟹   ENSP00000422020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,604 - 128,899,400 (+)Ensembl
Ensembl Acc Id: ENST00000515429   ⟹   ENSP00000426189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,629 - 128,893,601 (+)Ensembl
Ensembl Acc Id: ENST00000679399   ⟹   ENSP00000505434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,623 - 128,913,099 (+)Ensembl
Ensembl Acc Id: ENST00000679431   ⟹   ENSP00000506440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,643 - 128,913,102 (+)Ensembl
Ensembl Acc Id: ENST00000679613   ⟹   ENSP00000504971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,596 - 128,913,014 (+)Ensembl
Ensembl Acc Id: ENST00000679715   ⟹   ENSP00000506228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,883,123 - 128,913,109 (+)Ensembl
Ensembl Acc Id: ENST00000679824   ⟹   ENSP00000505516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,654 - 128,913,102 (+)Ensembl
Ensembl Acc Id: ENST00000679990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,629 - 128,913,083 (+)Ensembl
Ensembl Acc Id: ENST00000680636   ⟹   ENSP00000504886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,614 - 128,913,107 (+)Ensembl
Ensembl Acc Id: ENST00000680638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,907,862 - 128,913,084 (+)Ensembl
Ensembl Acc Id: ENST00000680744   ⟹   ENSP00000505243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,654 - 128,913,102 (+)Ensembl
Ensembl Acc Id: ENST00000680764   ⟹   ENSP00000505126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,643 - 128,913,102 (+)Ensembl
Ensembl Acc Id: ENST00000681319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,614 - 128,913,099 (+)Ensembl
Ensembl Acc Id: ENST00000681367   ⟹   ENSP00000505309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,596 - 128,913,092 (+)Ensembl
Ensembl Acc Id: ENST00000681552   ⟹   ENSP00000505699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,623 - 128,912,991 (+)Ensembl
Ensembl Acc Id: ENST00000681583   ⟹   ENSP00000506340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,596 - 128,924,003 (+)Ensembl
Ensembl Acc Id: ENST00000681585   ⟹   ENSP00000506316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,614 - 128,913,099 (+)Ensembl
Ensembl Acc Id: ENST00000681589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,654 - 128,905,200 (+)Ensembl
Ensembl Acc Id: ENST00000681784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,614 - 128,913,014 (+)Ensembl
Ensembl Acc Id: ENST00000681886   ⟹   ENSP00000506500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3128,879,634 - 128,913,083 (+)Ensembl
RefSeq Acc Id: NM_001410805   ⟹   NP_001397734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,879,620 - 128,913,114 (+)NCBI
T2T-CHM13v2.03131,624,340 - 131,657,836 (+)NCBI
RefSeq Acc Id: NM_014049   ⟹   NP_054768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,879,620 - 128,913,114 (+)NCBI
GRCh373128,598,333 - 128,631,957 (+)ENTREZGENE
Build 363130,081,144 - 130,114,647 (+)NCBI Archive
HuRef3125,985,335 - 126,019,201 (+)ENTREZGENE
CHM1_13128,561,563 - 128,595,180 (+)NCBI
T2T-CHM13v2.03131,624,340 - 131,657,836 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033426
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,879,620 - 128,913,114 (+)NCBI
GRCh373128,598,333 - 128,631,957 (+)ENTREZGENE
HuRef3125,985,335 - 126,019,201 (+)ENTREZGENE
CHM1_13128,561,563 - 128,595,180 (+)NCBI
T2T-CHM13v2.03131,624,340 - 131,657,836 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453484   ⟹   XP_024309252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,880,091 - 128,913,114 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054346362   ⟹   XP_054202337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,624,811 - 131,657,836 (+)NCBI
RefSeq Acc Id: XR_008486706
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,624,340 - 131,649,156 (+)NCBI
RefSeq Acc Id: XR_427367
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,879,620 - 128,904,434 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001397734 (Get FASTA)   NCBI Sequence Viewer  
  NP_054768 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202337 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD44486 (Get FASTA)   NCBI Sequence Viewer  
  AAH01817 (Get FASTA)   NCBI Sequence Viewer  
  AAH07970 (Get FASTA)   NCBI Sequence Viewer  
  AAH13354 (Get FASTA)   NCBI Sequence Viewer  
  AAL56011 (Get FASTA)   NCBI Sequence Viewer  
  BAB14104 (Get FASTA)   NCBI Sequence Viewer  
  BAB14775 (Get FASTA)   NCBI Sequence Viewer  
  BAD92664 (Get FASTA)   NCBI Sequence Viewer  
  BAG57785 (Get FASTA)   NCBI Sequence Viewer  
  BAG60267 (Get FASTA)   NCBI Sequence Viewer  
  CAE90483 (Get FASTA)   NCBI Sequence Viewer  
  EAW79293 (Get FASTA)   NCBI Sequence Viewer  
  EAW79294 (Get FASTA)   NCBI Sequence Viewer  
  EAW79295 (Get FASTA)   NCBI Sequence Viewer  
  EAW79296 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312618
  ENSP00000312618.7
  ENSP00000422020.1
  ENSP00000422683.1
  ENSP00000423758.1
  ENSP00000425226.1
  ENSP00000425346.1
  ENSP00000426189.1
  ENSP00000426277.1
  ENSP00000427283.1
  ENSP00000504886.1
  ENSP00000504971.1
  ENSP00000505126.1
  ENSP00000505243.1
  ENSP00000505309.1
  ENSP00000505434.1
  ENSP00000505516.1
  ENSP00000505699.1
  ENSP00000506228
  ENSP00000506228.1
  ENSP00000506316.1
  ENSP00000506340.1
  ENSP00000506440.1
  ENSP00000506500.1
GenBank Protein Q9H845 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_054768   ⟸   NM_014049
- Peptide Label: isoform 1
- UniProtKB: Q9H845 (UniProtKB/Swiss-Prot),   D3DNB8 (UniProtKB/Swiss-Prot),   Q8WXX3 (UniProtKB/Swiss-Prot),   A0A7P0T8U3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309252   ⟸   XM_024453484
- Peptide Label: isoform X1
- UniProtKB: Q9H9W4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000312618   ⟸   ENST00000308982
Ensembl Acc Id: ENSP00000425346   ⟸   ENST00000505867
Ensembl Acc Id: ENSP00000426277   ⟸   ENST00000505192
Ensembl Acc Id: ENSP00000422683   ⟸   ENST00000508971
Ensembl Acc Id: ENSP00000425226   ⟸   ENST00000511227
Ensembl Acc Id: ENSP00000427283   ⟸   ENST00000512801
Ensembl Acc Id: ENSP00000422020   ⟸   ENST00000514643
Ensembl Acc Id: ENSP00000423758   ⟸   ENST00000514336
Ensembl Acc Id: ENSP00000426189   ⟸   ENST00000515429
Ensembl Acc Id: ENSP00000504971   ⟸   ENST00000679613
Ensembl Acc Id: ENSP00000505126   ⟸   ENST00000680764
Ensembl Acc Id: ENSP00000506340   ⟸   ENST00000681583
Ensembl Acc Id: ENSP00000506228   ⟸   ENST00000679715
Ensembl Acc Id: ENSP00000506500   ⟸   ENST00000681886
Ensembl Acc Id: ENSP00000505516   ⟸   ENST00000679824
Ensembl Acc Id: ENSP00000505309   ⟸   ENST00000681367
Ensembl Acc Id: ENSP00000506440   ⟸   ENST00000679431
Ensembl Acc Id: ENSP00000504886   ⟸   ENST00000680636
Ensembl Acc Id: ENSP00000506316   ⟸   ENST00000681585
Ensembl Acc Id: ENSP00000505434   ⟸   ENST00000679399
Ensembl Acc Id: ENSP00000505699   ⟸   ENST00000681552
Ensembl Acc Id: ENSP00000505243   ⟸   ENST00000680744
RefSeq Acc Id: NP_001397734   ⟸   NM_001410805
- Peptide Label: isoform 2
- UniProtKB: Q9H9W4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202337   ⟸   XM_054346362
- Peptide Label: isoform X1
Protein Domains
ACAD9/ACADV-like C-terminal   Acyl-CoA dehydrogenase/oxidase C-terminal   Acyl-CoA dehydrogenase/oxidase N-terminal   Acyl-CoA oxidase/dehydrogenase middle

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H845-F1-model_v2 AlphaFold Q9H845 1-621 view protein structure

Promoters
RGD ID:6865610
Promoter ID:EPDNEW_H5970
Type:initiation region
Name:ACAD9_1
Description:acyl-CoA dehydrogenase family member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5971  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,879,620 - 128,879,680EPDNEW
RGD ID:6865612
Promoter ID:EPDNEW_H5971
Type:initiation region
Name:ACAD9_2
Description:acyl-CoA dehydrogenase family member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5970  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383128,897,636 - 128,897,696EPDNEW
RGD ID:6800575
Promoter ID:HG_KWN:46144
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014049,   NR_033426,   UC003ELB.1,   UC010HSW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,080,301 - 130,081,197 (+)MPROMDB
RGD ID:6800569
Promoter ID:HG_KWN:46147
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC003ELE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,104,931 - 130,105,431 (+)MPROMDB
RGD ID:6800963
Promoter ID:HG_KWN:46148
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000406840
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,110,586 - 130,111,717 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21497 AgrOrtholog
COSMIC ACAD9 COSMIC
Ensembl Genes ENSG00000177646 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000308982 ENTREZGENE
  ENST00000308982.12 UniProtKB/Swiss-Prot
  ENST00000505192.5 UniProtKB/TrEMBL
  ENST00000505867.5 UniProtKB/TrEMBL
  ENST00000508971.1 UniProtKB/TrEMBL
  ENST00000511227 ENTREZGENE
  ENST00000511227.5 UniProtKB/TrEMBL
  ENST00000512801.5 UniProtKB/TrEMBL
  ENST00000514336.1 UniProtKB/TrEMBL
  ENST00000514643.5 UniProtKB/TrEMBL
  ENST00000515429.1 UniProtKB/TrEMBL
  ENST00000679399.1 UniProtKB/TrEMBL
  ENST00000679431.1 UniProtKB/TrEMBL
  ENST00000679613.1 UniProtKB/TrEMBL
  ENST00000679715 ENTREZGENE
  ENST00000679715.1 UniProtKB/TrEMBL
  ENST00000679824.1 UniProtKB/TrEMBL
  ENST00000680636.1 UniProtKB/TrEMBL
  ENST00000680744.1 UniProtKB/TrEMBL
  ENST00000680764.1 UniProtKB/TrEMBL
  ENST00000681367.1 UniProtKB/TrEMBL
  ENST00000681552.1 UniProtKB/TrEMBL
  ENST00000681583.1 UniProtKB/Swiss-Prot
  ENST00000681585.1 UniProtKB/TrEMBL
  ENST00000681886.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Butyryl-CoA Dehydrogenase, subunit A, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177646 GTEx
HGNC ID HGNC:21497 ENTREZGENE
Human Proteome Map ACAD9 Human Proteome Map
InterPro ACAD9/ACADV-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_mid-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28976 UniProtKB/Swiss-Prot
NCBI Gene 28976 ENTREZGENE
OMIM 611103 OMIM
PANTHER ACYL-COA DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMPLEX I ASSEMBLY FACTOR ACAD9, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ACAD9-ACADV_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134900655 PharmGKB
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYL_COA_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T7Z1_HUMAN UniProtKB/TrEMBL
  A0A7P0T871_HUMAN UniProtKB/TrEMBL
  A0A7P0T8U3 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9N9_HUMAN UniProtKB/TrEMBL
  A0A7P0TB58_HUMAN UniProtKB/TrEMBL
  A0A7P0TB68_HUMAN UniProtKB/TrEMBL
  A0A7P0Z450_HUMAN UniProtKB/TrEMBL
  ACAD9_HUMAN UniProtKB/Swiss-Prot
  D3DNB8 ENTREZGENE
  D6R9Z3_HUMAN UniProtKB/TrEMBL
  D6RCD8_HUMAN UniProtKB/TrEMBL
  D6RDK9_HUMAN UniProtKB/TrEMBL
  D6RGK6_HUMAN UniProtKB/TrEMBL
  D6RJA8_HUMAN UniProtKB/TrEMBL
  H0Y8Z9_HUMAN UniProtKB/TrEMBL
  Q8WXX3 ENTREZGENE
  Q9BUX5_HUMAN UniProtKB/TrEMBL
  Q9H845 ENTREZGENE
  Q9H9W4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DNB8 UniProtKB/Swiss-Prot
  Q8WXX3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ACAD9  acyl-CoA dehydrogenase family member 9  ACAD9  acyl-CoA dehydrogenase family, member 9  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACAD9  acyl-CoA dehydrogenase family, member 9  ACAD9  acyl-Coenzyme A dehydrogenase family, member 9  Symbol and/or name change 5135510 APPROVED