ETFDH (electron transfer flavoprotein dehydrogenase) - Rat Genome Database

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Gene: ETFDH (electron transfer flavoprotein dehydrogenase) Homo sapiens
Analyze
Symbol: ETFDH
Name: electron transfer flavoprotein dehydrogenase
RGD ID: 1354191
HGNC Page HGNC:3483
Description: Enables 4 iron, 4 sulfur cluster binding activity; electron-transferring-flavoprotein dehydrogenase activity; and ubiquinone binding activity. Involved in electron transport chain and fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial inner membrane. Implicated in multiple acyl-CoA dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: electron transfer flavoprotein ubiquinone oxidoreductase; electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; electron-transferring-flavoprotein dehydrogenase; ETF dehydrogenase; ETF-QO; ETF-ubiquinone oxidoreductase; ETFQO; MADD; mutant electron transfer flavoprotein dehydrogenase
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
GRCh384158,672,296 - 158,709,623 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,671,968 - 158,710,742 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,593,448 - 159,630,775 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,812,727 - 159,849,292 (+)NCBINCBI36Build 36hg18NCBI36
Build 344159,951,100 - 159,987,423NCBI
Celera4156,934,316 - 156,970,701 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4155,343,105 - 155,379,682 (+)NCBIHuRef
CHM1_14159,569,735 - 159,606,307 (+)NCBICHM1_1
T2T-CHM13v2.04162,023,044 - 162,060,372 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
fenofibrate  (EXP,ISO)
finasteride  (ISO)
flutamide  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
mitoxantrone  (ISO)
Muraglitazar  (ISO)
N-nitrosomorpholine  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
mitochondrial inner membrane  (IBA,IDA,IEA,TAS)
mitochondrial membrane  (IDA,ISO)
mitochondrion  (HTP,IEA)

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:1438400   PMID:8306995   PMID:8617498   PMID:12049629   PMID:12359134   PMID:12477932   PMID:12815589   PMID:14640977   PMID:15489334   PMID:16344560   PMID:17050691   PMID:17412732  
PMID:17584774   PMID:18037314   PMID:19208393   PMID:19249206   PMID:19265687   PMID:19758981   PMID:20037589   PMID:20138856   PMID:20370797   PMID:20877624   PMID:21088898   PMID:21347544  
PMID:21873635   PMID:21886157   PMID:22496890   PMID:22611163   PMID:22658674   PMID:24123825   PMID:24357026   PMID:24816252   PMID:25119904   PMID:26821934   PMID:27000805   PMID:27060313  
PMID:27499296   PMID:27935074   PMID:30027710   PMID:30424791   PMID:31418342   PMID:31536960   PMID:31598946   PMID:31704152   PMID:31852447   PMID:32296183   PMID:32393189   PMID:32550677  
PMID:32804429   PMID:33000234   PMID:33823724   PMID:33961781   PMID:34704421   PMID:34782606   PMID:34800366   PMID:36215168   PMID:37827155   PMID:39455656  


Genomics

Comparative Map Data
ETFDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384158,672,296 - 158,709,623 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,671,968 - 158,710,742 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,593,448 - 159,630,775 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,812,727 - 159,849,292 (+)NCBINCBI36Build 36hg18NCBI36
Build 344159,951,100 - 159,987,423NCBI
Celera4156,934,316 - 156,970,701 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4155,343,105 - 155,379,682 (+)NCBIHuRef
CHM1_14159,569,735 - 159,606,307 (+)NCBICHM1_1
T2T-CHM13v2.04162,023,044 - 162,060,372 (+)NCBIT2T-CHM13v2.0
Etfdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39379,511,095 - 79,536,074 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl379,511,095 - 79,536,807 (-)EnsemblGRCm39 Ensembl
GRCm38379,603,788 - 79,628,767 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl379,603,788 - 79,629,500 (-)EnsemblGRCm38mm10GRCm38
MGSCv37379,407,710 - 79,432,689 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36379,689,739 - 79,721,121 (-)NCBIMGSCv36mm8
Celera379,641,935 - 79,666,883 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map334.91NCBI
Etfdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82167,038,707 - 167,060,758 (-)NCBIGRCr8
mRatBN7.22164,740,547 - 164,762,754 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2164,729,749 - 164,762,745 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2171,958,548 - 171,980,851 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02169,974,584 - 169,996,872 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02164,583,426 - 164,605,716 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02178,367,547 - 178,389,641 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2178,367,549 - 178,389,608 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02197,703,002 - 197,725,057 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42171,008,641 - 171,030,692 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12170,958,749 - 170,980,798 (-)NCBI
Celera2158,837,135 - 158,859,189 (-)NCBICelera
Cytogenetic Map2q33NCBI
Etfdh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547112,289,857 - 12,348,167 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547112,282,601 - 12,308,792 (+)NCBIChiLan1.0ChiLan1.0
ETFDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23156,539,264 - 156,578,007 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14156,894,847 - 156,933,256 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04150,992,123 - 151,028,698 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14162,802,917 - 162,838,807 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4162,802,917 - 162,838,807 (+)Ensemblpanpan1.1panPan2
ETFDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11555,752,170 - 55,781,118 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1555,752,200 - 55,792,105 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1556,114,006 - 56,142,677 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01556,495,410 - 56,525,823 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1556,495,413 - 56,525,811 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11555,734,215 - 55,762,881 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01555,833,373 - 55,862,247 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01556,147,031 - 56,175,699 (+)NCBIUU_Cfam_GSD_1.0
Etfdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530134,381,383 - 34,406,369 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365765,140,577 - 5,165,527 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365765,140,577 - 5,165,527 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ETFDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl847,608,772 - 47,657,436 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1847,608,499 - 47,655,889 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2850,013,348 - 50,060,554 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ETFDH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17105,214,231 - 105,252,100 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7105,213,653 - 105,254,502 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603784,921,905 - 84,959,410 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Etfdh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248483,639,294 - 3,677,517 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248483,639,559 - 3,673,771 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ETFDH
808 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004453.4(ETFDH):c.488-9T>C single nucleotide variant Glutaric acidemia type 2C [RCV001829571]|Multiple acyl-CoA dehydrogenase deficiency [RCV000543533] Chr4:158685092 [GRCh38]
Chr4:159606244 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000524621] Chr4:158699062 [GRCh38]
Chr4:159620214 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1658A>G (p.Tyr553Cys) single nucleotide variant not provided [RCV000722996] Chr4:158706818 [GRCh38]
Chr4:159627970 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.841A>T (p.Ile281Phe) single nucleotide variant not provided [RCV000722515] Chr4:158697568 [GRCh38]
Chr4:159618720 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000987490]|not provided [RCV000723006] Chr4:158706291 [GRCh38]
Chr4:159627443 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) deletion Glutaric acidemia IIc [RCV000012807]|Multiple acyl-CoA dehydrogenase deficiency [RCV003473080] Chr4:158680468 [GRCh38]
Chr4:159601620 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) single nucleotide variant Glutaric acidemia IIc [RCV000024282]|Glutaric acidemia type 2C [RCV001826506]|Multiple acyl-CoA dehydrogenase deficiency [RCV001216553]|not provided [RCV004589522] Chr4:158685137 [GRCh38]
Chr4:159606289 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) single nucleotide variant Glutaric acidemia iic, late-onset [RCV000024305]|Glutaric acidemia type 2C [RCV001831605]|Inborn genetic diseases [RCV000210651]|Multiple acyl-CoA dehydrogenase deficiency [RCV000578325]|not provided [RCV001814011] Chr4:158703436 [GRCh38]
Chr4:159624588 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) single nucleotide variant Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II [RCV001250164]|Glutaric acidemia iic, late-onset [RCV000024306]|Glutaric acidemia type 2C [RCV001831606]|Multiple acyl-CoA dehydrogenase deficiency [RCV000634896]|not provided [RCV002054473] Chr4:158706351 [GRCh38]
Chr4:159627503 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) single nucleotide variant Glutaric acidemia IIc [RCV000012806]|Multiple acyl-CoA dehydrogenase deficiency [RCV002512993] Chr4:158672458 [GRCh38]
Chr4:159593610 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) single nucleotide variant Glutaric acidemia IIc [RCV000012808]|Multiple acyl-CoA dehydrogenase deficiency [RCV000553294]|See cases [RCV003231099]|not provided [RCV000224728] Chr4:158682269 [GRCh38]
Chr4:159603421 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance|no classifications from unflagged records
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) single nucleotide variant Glutaric acidemia IIc [RCV000012809]|Multiple acyl-CoA dehydrogenase deficiency [RCV002512994] Chr4:158685137 [GRCh38]
Chr4:159606289 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) single nucleotide variant Glutaric acidemia IIc [RCV000012810]|Multiple acyl-CoA dehydrogenase deficiency [RCV000721976] Chr4:158682399 [GRCh38]
Chr4:159603551 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3 copy number gain See cases [RCV000051790] Chr4:156252927..160451424 [GRCh38]
Chr4:157174079..161372576 [GRCh37]
Chr4:157393529..161592026 [NCBI36]
Chr4:4q32.1		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
NM_004453.3(ETFDH):c.1243T>C (p.Phe415Leu) single nucleotide variant Malignant melanoma [RCV000066319] Chr4:158703549 [GRCh38]
Chr4:159624701 [GRCh37]
Chr4:159844151 [NCBI36]
Chr4:4q32.1		 not provided
NM_004453.3(ETFDH):c.1259G>A (p.Ser420Asn) single nucleotide variant Malignant melanoma [RCV000060938] Chr4:158703565 [GRCh38]
Chr4:159624717 [GRCh37]
Chr4:159844167 [NCBI36]
Chr4:4q32.1		 not provided
NM_001008393.3(C4orf46):c.124C>T (p.Pro42Ser) single nucleotide variant Malignant melanoma [RCV000060937] Chr4:158671678 [GRCh38]
Chr4:159592830 [GRCh37]
Chr4:159812280 [NCBI36]
Chr4:4q32.1		 not provided
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000173803]|not provided [RCV000081076] Chr4:158703540 [GRCh38]
Chr4:159624692 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000174102]|not provided [RCV000081077] Chr4:158706270 [GRCh38]
Chr4:159627422 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1823del (p.Gly608fs) deletion not provided [RCV000174536] Chr4:158708495 [GRCh38]
Chr4:159629647 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002515777]|not provided [RCV000081079] Chr4:158695620 [GRCh38]
Chr4:159616772 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) single nucleotide variant Glutaric acidemia type 2C [RCV001826769]|Multiple acyl-CoA dehydrogenase deficiency [RCV000355141]|not provided [RCV000676844]|not specified [RCV000081080] Chr4:158680524 [GRCh38]
Chr4:159601676 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.684+13A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149620]|not specified [RCV000124917] Chr4:158690438 [GRCh38]
Chr4:159611590 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004453.4(ETFDH):c.832-10T>G single nucleotide variant ETFDH-related disorder [RCV003935187]|Multiple acyl-CoA dehydrogenase deficiency [RCV001079915]|not provided [RCV000676845]|not specified [RCV000124918] Chr4:158697549 [GRCh38]
Chr4:159618701 [GRCh37]
Chr4:4q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) single nucleotide variant ETFDH-related disorder [RCV003975105]|Multiple acyl-CoA dehydrogenase deficiency [RCV000903097]|not specified [RCV000124919] Chr4:158699094 [GRCh38]
Chr4:159620246 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000332982]|not provided [RCV000676847]|not specified [RCV000124920] Chr4:158706693 [GRCh38]
Chr4:159627845 [GRCh37]
Chr4:4q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004453.4(ETFDH):c.1690+15C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000268662]|not provided [RCV004715710]|not specified [RCV000124921] Chr4:158706865 [GRCh38]
Chr4:159628017 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) duplication ETFDH-related disorder [RCV004748625]|Multiple acyl-CoA dehydrogenase deficiency [RCV000175781]|not provided [RCV000185906] Chr4:158680482..158680483 [GRCh38]
Chr4:159601634..159601635 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) single nucleotide variant Glutaric acidemia type 2C [RCV001826924]|Multiple acyl-CoA dehydrogenase deficiency [RCV000180601]|not provided [RCV000723385] Chr4:158699015 [GRCh38]
Chr4:159620167 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000275519]|not provided [RCV000174333] Chr4:158706691 [GRCh38]
Chr4:159627843 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3 copy number gain See cases [RCV000136603] Chr4:158387928..166845726 [GRCh38]
Chr4:159309080..167766877 [GRCh37]
Chr4:159528530..168003452 [NCBI36]
Chr4:4q32.1-32.3		 pathogenic|uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3 copy number gain See cases [RCV000138528] Chr4:158598730..160080941 [GRCh38]
Chr4:159519882..161002093 [GRCh37]
Chr4:159739332..161221543 [NCBI36]
Chr4:4q32.1		 likely benign|uncertain significance
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33		 pathogenic
GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3 copy number gain See cases [RCV000143621] Chr4:156499748..163386407 [GRCh38]
Chr4:157420900..164307559 [GRCh37]
Chr4:157640350..164527009 [NCBI36]
Chr4:4q32.1-32.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) single nucleotide variant ETFDH-related disorder [RCV003927480]|Multiple acyl-CoA dehydrogenase deficiency [RCV000634899]|not provided [RCV001704110]|not specified [RCV000153201] Chr4:158682400 [GRCh38]
Chr4:159603552 [GRCh37]
Chr4:4q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) single nucleotide variant Glutaric acidemia type 2C [RCV001831952]|Multiple acyl-CoA dehydrogenase deficiency [RCV000392257]|not provided [RCV000153200] Chr4:158680511 [GRCh38]
Chr4:159601663 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001850092]|not provided [RCV000174332] Chr4:158706728..158706729 [GRCh38]
Chr4:159627880..159627881 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
NM_004453.4(ETFDH):c.860A>G (p.Lys287Arg) single nucleotide variant not specified [RCV000185883] Chr4:158697587 [GRCh38]
Chr4:159618739 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+15A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000367855]|not specified [RCV000185884] Chr4:158706386 [GRCh38]
Chr4:159627538 [GRCh37]
Chr4:4q32.1		 benign|uncertain significance
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) single nucleotide variant Inborn genetic diseases [RCV003165419]|Multiple acyl-CoA dehydrogenase deficiency [RCV002517822]|not provided [RCV001704964] Chr4:158706640 [GRCh38]
Chr4:159627792 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.22C>G (p.Leu8Val) single nucleotide variant not specified [RCV000185886] Chr4:158672478 [GRCh38]
Chr4:159593630 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.38A>G (p.Tyr13Cys) single nucleotide variant not specified [RCV000185887] Chr4:158680470 [GRCh38]
Chr4:159601622 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000297924]|not specified [RCV000185888] Chr4:158680523 [GRCh38]
Chr4:159601675 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.568C>A (p.Leu190Ile) single nucleotide variant not provided [RCV000185891] Chr4:158685181 [GRCh38]
Chr4:159606333 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) single nucleotide variant ETFDH-related disorder [RCV003937656]|Hypertrophic cardiomyopathy [RCV001199401]|Multiple acyl-CoA dehydrogenase deficiency [RCV001079922]|not provided [RCV000185892] Chr4:158685185 [GRCh38]
Chr4:159606337 [GRCh37]
Chr4:4q32.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.380T>C (p.Leu127Pro) single nucleotide variant not provided [RCV000185889] Chr4:158682399 [GRCh38]
Chr4:159603551 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.524G>C (p.Arg175Pro) single nucleotide variant not provided [RCV000185890]|not specified [RCV004700562] Chr4:158685137 [GRCh38]
Chr4:159606289 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) single nucleotide variant Glutaric acidemia type 2C [RCV001827992]|Multiple acyl-CoA dehydrogenase deficiency [RCV002517823]|not specified [RCV000185893] Chr4:158695545 [GRCh38]
Chr4:159616697 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.739G>C (p.Gly247Arg) single nucleotide variant not provided [RCV000185894] Chr4:158695551 [GRCh38]
Chr4:159616703 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys) single nucleotide variant not provided [RCV000185895] Chr4:158697656 [GRCh38]
Chr4:159618808 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.973G>T (p.Val325Phe) single nucleotide variant Inborn genetic diseases [RCV003244087] Chr4:158698987 [GRCh38]
Chr4:159620139 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002478652]|not provided [RCV000185897] Chr4:158699087 [GRCh38]
Chr4:159620239 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002516968]|not provided [RCV000185898]|not specified [RCV002282017] Chr4:158699093 [GRCh38]
Chr4:159620245 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001053110] Chr4:158706254 [GRCh38]
Chr4:159627406 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000660476]|not provided [RCV000185900] Chr4:158706278 [GRCh38]
Chr4:159627430 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003474942]|not provided [RCV000185901] Chr4:158708482 [GRCh38]
Chr4:159629634 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002047712] Chr4:158708525 [GRCh38]
Chr4:159629677 [GRCh37]
Chr4:4q32.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.175+1G>C single nucleotide variant not provided [RCV000185903] Chr4:158680608 [GRCh38]
Chr4:159601760 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) microsatellite ETFDH-related disorder [RCV003398924]|Multiple acyl-CoA dehydrogenase deficiency [RCV000698712]|not provided [RCV000185904] Chr4:158682314..158682315 [GRCh38]
Chr4:159603466..159603467 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.485_487+14delinsT indel Inborn genetic diseases [RCV002517824]|Multiple acyl-CoA dehydrogenase deficiency [RCV003474943]|not provided [RCV000185905] Chr4:158684671..158684687 [GRCh38]
Chr4:159605823..159605839 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs) duplication not provided [RCV000185906] Chr4:158680483 [GRCh38]
Chr4:159601635 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.405+3A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000809835]|not provided [RCV000185907] Chr4:158682427 [GRCh38]
Chr4:159603579 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.210TGT[1] (p.Val72del) microsatellite not provided [RCV000185908] Chr4:158682229..158682231 [GRCh38]
Chr4:159603381..159603383 [GRCh37]
Chr4:4q32.1		 likely pathogenic
GRCh37/hg19 4q32.1(chr4:159047068-159600690)x3 copy number gain See cases [RCV000239828] Chr4:159047068..159600690 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) single nucleotide variant ETFDH-related disorder [RCV004748682]|Glutaric acidemia type 2C [RCV001833298]|Multiple acyl-CoA dehydrogenase deficiency [RCV001069003]|not provided [RCV000255489] Chr4:158708505 [GRCh38]
Chr4:159629657 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624410]|not provided [RCV000224742] Chr4:158680589 [GRCh38]
Chr4:159601741 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV000543124]|not provided [RCV000224798] Chr4:158708446..158708447 [GRCh38]
Chr4:159629598..159629599 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002519760]|not provided [RCV000224819] Chr4:158684648 [GRCh38]
Chr4:159605800 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) single nucleotide variant Glutaric acidemia type 2C [RCV001833469]|Multiple acyl-CoA dehydrogenase deficiency [RCV000284618] Chr4:158672468 [GRCh38]
Chr4:159593620 [GRCh37]
Chr4:4q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.383T>C (p.Phe128Ser) single nucleotide variant not provided [RCV000520501] Chr4:158682402 [GRCh38]
Chr4:159603554 [GRCh37]
Chr4:4q32.1		 likely pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_004453.4(ETFDH):c.-97G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000398251] Chr4:158672360 [GRCh38]
Chr4:159593512 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1116+7C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000301497] Chr4:158699137 [GRCh38]
Chr4:159620289 [GRCh37]
Chr4:4q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.*135A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000383079]|not provided [RCV001691994] Chr4:158708662 [GRCh38]
Chr4:159629814 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.3(ETFDH):c.-239G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000290553]|not provided [RCV001551455] Chr4:158672218 [GRCh38]
Chr4:159593370 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000341906]|not provided [RCV004584692] Chr4:158680495 [GRCh38]
Chr4:159601647 [GRCh37]
Chr4:4q32.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.*53del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV000326186] Chr4:158708580 [GRCh38]
Chr4:159629732 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000392282] Chr4:158680574 [GRCh38]
Chr4:159601726 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) single nucleotide variant ETFDH-related disorder [RCV003957801]|Multiple acyl-CoA dehydrogenase deficiency [RCV000370319]|not provided [RCV000676848] Chr4:158706750 [GRCh38]
Chr4:159627902 [GRCh37]
Chr4:4q32.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000987487]|not provided [RCV000489467] Chr4:158684649 [GRCh38]
Chr4:159605801 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_004453.4(ETFDH):c.1116+6T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279052] Chr4:158699136 [GRCh38]
Chr4:159620288 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) single nucleotide variant Inborn genetic diseases [RCV002537827]|Multiple acyl-CoA dehydrogenase deficiency [RCV001279053] Chr4:158703583 [GRCh38]
Chr4:159624735 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279056] Chr4:158706248 [GRCh38]
Chr4:159627400 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279062] Chr4:158706828 [GRCh38]
Chr4:159627980 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.3(ETFDH):c.-315G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000382620] Chr4:158672142 [GRCh38]
Chr4:159593294 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.3(ETFDH):c.-174A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000347745] Chr4:158672283 [GRCh38]
Chr4:159593435 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1325C>T (p.Ser442Leu) single nucleotide variant not specified [RCV000625800] Chr4:158706228 [GRCh38]
Chr4:159627380 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.888T>C (p.Gly296=) single nucleotide variant ETFDH-related disorder [RCV003892344]|Multiple acyl-CoA dehydrogenase deficiency [RCV001457898]|not specified [RCV000600458] Chr4:158697615 [GRCh38]
Chr4:159618767 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.324_330delinsTCCT (p.Gln108_Gly110delinsHisPro) indel not provided [RCV000598616] Chr4:158682343..158682349 [GRCh38]
Chr4:159603495..159603501 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1303T>C (p.Tyr435His) single nucleotide variant not provided [RCV000415808] Chr4:158706206 [GRCh38]
Chr4:159627358 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000763116]|not provided [RCV000415983] Chr4:158706269 [GRCh38]
Chr4:159627421 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) single nucleotide variant ETFDH-related disorder [RCV003419931]|Glutaric acidemia type 2C [RCV001829570]|Multiple acyl-CoA dehydrogenase deficiency [RCV000539322] Chr4:158699098 [GRCh38]
Chr4:159620250 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.35-3C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000533347] Chr4:158680464 [GRCh38]
Chr4:159601616 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1(chr4:159588593-159616719)x3 copy number gain See cases [RCV000446792] Chr4:159588593..159616719 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) single nucleotide variant ETFDH-related disorder [RCV003959893]|Multiple acyl-CoA dehydrogenase deficiency [RCV000874951]|not provided [RCV001703660] Chr4:158690368 [GRCh38]
Chr4:159611520 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+10A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001494808]|not specified [RCV000429787] Chr4:158706381 [GRCh38]
Chr4:159627533 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000880894]|not provided [RCV001718825] Chr4:158706762 [GRCh38]
Chr4:159627914 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001145314]|not provided [RCV001703659] Chr4:158706678 [GRCh38]
Chr4:159627830 [GRCh37]
Chr4:4q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.832-15T>A single nucleotide variant not provided [RCV001704363] Chr4:158697544 [GRCh38]
Chr4:159618696 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000818859]|not provided [RCV000483304] Chr4:158706761 [GRCh38]
Chr4:159627913 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002525759]|not provided [RCV000485144] Chr4:158685136 [GRCh38]
Chr4:159606288 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001865424]|not provided [RCV000479281] Chr4:158685173 [GRCh38]
Chr4:159606325 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) single nucleotide variant Inborn genetic diseases [RCV001266160]|Multiple acyl-CoA dehydrogenase deficiency [RCV000763115]|not provided [RCV000498882] Chr4:158684599 [GRCh38]
Chr4:159605751 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_004453.4(ETFDH):c.186G>C (p.Met62Ile) single nucleotide variant Glutaric acidemia type 2C [RCV001829416]|not provided [RCV000497835] Chr4:158682205 [GRCh38]
Chr4:159603357 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_004453.4(ETFDH):c.829G>A (p.Glu277Lys) single nucleotide variant not provided [RCV000498367] Chr4:158695641 [GRCh38]
Chr4:159616793 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001856959]|not provided [RCV000493889]|not specified [RCV002282174] Chr4:158699033 [GRCh38]
Chr4:159620185 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.171G>A (p.Trp57Ter) single nucleotide variant not provided [RCV000578552] Chr4:158680603 [GRCh38]
Chr4:159601755 [GRCh37]
Chr4:4q32.1		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_004453.4(ETFDH):c.1285+1G>A single nucleotide variant Glutaric acidemia type 2C [RCV001835015]|Multiple acyl-CoA dehydrogenase deficiency [RCV000634893] Chr4:158703592 [GRCh38]
Chr4:159624744 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000634894]|not provided [RCV001562757] Chr4:158708406 [GRCh38]
Chr4:159629558 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1690+1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000634895] Chr4:158706851 [GRCh38]
Chr4:159628003 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) single nucleotide variant Inborn genetic diseases [RCV002528869]|Multiple acyl-CoA dehydrogenase deficiency [RCV000634898] Chr4:158697568 [GRCh38]
Chr4:159618720 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000634901] Chr4:158690383 [GRCh38]
Chr4:159611535 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.-41CCT[1] microsatellite not specified [RCV000606827] Chr4:158672415..158672417 [GRCh38]
Chr4:159593567..159593569 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1312A>G (p.Asn438Asp) single nucleotide variant Inborn genetic diseases [RCV003274715] Chr4:158706215 [GRCh38]
Chr4:159627367 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) single nucleotide variant ETFDH-related disorder [RCV003953083]|Multiple acyl-CoA dehydrogenase deficiency [RCV001083639]|not provided [RCV000676849] Chr4:158708485 [GRCh38]
Chr4:159629637 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000625637] Chr4:158703447 [GRCh38]
Chr4:159624599 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) single nucleotide variant Glutaric acidemia type 2C [RCV001834766]|Multiple acyl-CoA dehydrogenase deficiency [RCV000554634]|not provided [RCV004592560] Chr4:158706317 [GRCh38]
Chr4:159627469 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.175+3A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000925945]|not provided [RCV001719067] Chr4:158680610 [GRCh38]
Chr4:159601762 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000558221] Chr4:158690420 [GRCh38]
Chr4:159611572 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000931480]|not specified [RCV000604742] Chr4:158684627 [GRCh38]
Chr4:159605779 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.678A>G (p.Ala226=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001407287]|not specified [RCV000611975] Chr4:158690419 [GRCh38]
Chr4:159611571 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.846T>C (p.Asp282=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002063960]|not specified [RCV000605057] Chr4:158697573 [GRCh38]
Chr4:159618725 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_004453.4(ETFDH):c.34+7G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002528681]|not specified [RCV000606140] Chr4:158672497 [GRCh38]
Chr4:159593649 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs) insertion Distal spinal muscular atrophy [RCV000664244] Chr4:158685136..158685137 [GRCh38]
Chr4:159606288..159606289 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000699613]|not provided [RCV001577644] Chr4:158672490 [GRCh38]
Chr4:159593642 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
NM_004453.4(ETFDH):c.1310A>G (p.Asp437Gly) single nucleotide variant not provided [RCV000676846] Chr4:158706213 [GRCh38]
Chr4:159627365 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814220]|ETFDH-related disorder [RCV004748909]|Multiple acyl-CoA dehydrogenase deficiency [RCV000699705] Chr4:158680553 [GRCh38]
Chr4:159601705 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) single nucleotide variant Glutaric acidemia type 2C [RCV001829892]|Multiple acyl-CoA dehydrogenase deficiency [RCV000685445] Chr4:158695619 [GRCh38]
Chr4:159616771 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000691018] Chr4:158697689 [GRCh38]
Chr4:159618841 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.831+4T>C single nucleotide variant Inborn genetic diseases [RCV002534358]|Multiple acyl-CoA dehydrogenase deficiency [RCV000698477]|not provided [RCV001585642] Chr4:158695647 [GRCh38]
Chr4:159616799 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1469-1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001868918]|not provided [RCV000722270] Chr4:158706628 [GRCh38]
Chr4:159627780 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.986A>G (p.Tyr329Cys) single nucleotide variant not provided [RCV000722451] Chr4:158699000 [GRCh38]
Chr4:159620152 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1 copy number loss not provided [RCV000845798] Chr4:158177478..163328854 [GRCh37]
Chr4:4q32.1-32.2		 uncertain significance
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001563959] Chr4:158703481 [GRCh38]
Chr4:159624633 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_004453.4(ETFDH):c.1117-284C>G single nucleotide variant not provided [RCV001583161] Chr4:158703139 [GRCh38]
Chr4:159624291 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-258G>A single nucleotide variant not provided [RCV001534132] Chr4:158705931 [GRCh38]
Chr4:159627083 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001698748] Chr4:158685193..158685194 [GRCh38]
Chr4:159606345..159606346 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001698889] Chr4:158697647 [GRCh38]
Chr4:159618799 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.405+118del deletion not provided [RCV001566476] Chr4:158682531 [GRCh38]
Chr4:159603683 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1117-232G>A single nucleotide variant not provided [RCV001547180] Chr4:158703191 [GRCh38]
Chr4:159624343 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001563960] Chr4:158706263 [GRCh38]
Chr4:159627415 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.684+265AAG[5] microsatellite not provided [RCV001586589] Chr4:158690689..158690690 [GRCh38]
Chr4:159611841..159611842 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.12:g.158672031A>G single nucleotide variant not provided [RCV001584871] Chr4:158672031 [GRCh38]
Chr4:159593183 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147257] Chr4:158706813 [GRCh38]
Chr4:159627965 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147258]|not specified [RCV002298875] Chr4:158708405 [GRCh38]
Chr4:159629557 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.-77C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147170] Chr4:158672380 [GRCh38]
Chr4:159593532 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.607-12dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002072030]|not provided [RCV001550025] Chr4:158690330..158690331 [GRCh38]
Chr4:159611482..159611483 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000944591] Chr4:158706715 [GRCh38]
Chr4:159627867 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001429674]|not provided [RCV003438609] Chr4:158706247 [GRCh38]
Chr4:159627399 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+7T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000981123] Chr4:158697706 [GRCh38]
Chr4:159618858 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.474G>A (p.Val158=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000937004] Chr4:158684660 [GRCh38]
Chr4:159605812 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.651C>T (p.Asn217=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000944228] Chr4:158690392 [GRCh38]
Chr4:159611544 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-8A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000884504] Chr4:158706181 [GRCh38]
Chr4:159627333 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+3_684+9dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001421159] Chr4:158690426..158690427 [GRCh38]
Chr4:159611578..159611579 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001047294] Chr4:158703474 [GRCh38]
Chr4:159624626 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001035118] Chr4:158697619 [GRCh38]
Chr4:159618771 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001051962]|not provided [RCV001545243] Chr4:158695626 [GRCh38]
Chr4:159616778 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) single nucleotide variant Glutaric acidemia type 2C [RCV001832485]|Multiple acyl-CoA dehydrogenase deficiency [RCV001052816]|not provided [RCV001547531] Chr4:158706237 [GRCh38]
Chr4:159627389 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.973-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000811062] Chr4:158698986 [GRCh38]
Chr4:159620138 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) single nucleotide variant Glutaric acidemia type 2C [RCV001830667]|Multiple acyl-CoA dehydrogenase deficiency [RCV000778725] Chr4:158685158 [GRCh38]
Chr4:159606310 [GRCh37]
Chr4:4q32.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1116+2T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000778726] Chr4:158699132 [GRCh38]
Chr4:159620284 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000978261] Chr4:158706783 [GRCh38]
Chr4:159627935 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) single nucleotide variant ETFDH-related disorder [RCV003908392]|Multiple acyl-CoA dehydrogenase deficiency [RCV000879649]|not provided [RCV001731970] Chr4:158699063 [GRCh38]
Chr4:159620215 [GRCh37]
Chr4:4q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.882T>C (p.Thr294=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000941613] Chr4:158697609 [GRCh38]
Chr4:159618761 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) single nucleotide variant Glutaric acidemia type 2C [RCV001273692]|Multiple acyl-CoA dehydrogenase deficiency [RCV000897763] Chr4:158706720 [GRCh38]
Chr4:159627872 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.459A>G (p.Lys153=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000982390] Chr4:158684645 [GRCh38]
Chr4:159605797 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.996A>G (p.Pro332=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001490549] Chr4:158699010 [GRCh38]
Chr4:159620162 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.507T>C (p.His169=) single nucleotide variant Glutaric acidemia type 2C [RCV001832235]|Multiple acyl-CoA dehydrogenase deficiency [RCV001448424] Chr4:158685120 [GRCh38]
Chr4:159606272 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.831+224C>T single nucleotide variant not provided [RCV000839858] Chr4:158695867 [GRCh38]
Chr4:159617019 [GRCh37]
Chr4:4q32.1		 benign
NC_000004.11:g.(?_159601609)_(159620292_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV000801983] Chr4:158680457..158699140 [GRCh38]
Chr4:159601609..159620292 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000799942] Chr4:158703517 [GRCh38]
Chr4:159624669 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) single nucleotide variant Glutaric acidemia type 2C [RCV001830777]|Multiple acyl-CoA dehydrogenase deficiency [RCV000813094] Chr4:158682303 [GRCh38]
Chr4:159603455 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000797045] Chr4:158690403 [GRCh38]
Chr4:159611555 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1571T>C (p.Leu524Pro) single nucleotide variant not provided [RCV000998313] Chr4:158706731 [GRCh38]
Chr4:159627883 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000813251] Chr4:158682408 [GRCh38]
Chr4:159603560 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000824611]|not provided [RCV004702465] Chr4:158695582 [GRCh38]
Chr4:159616734 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149618] Chr4:158684630 [GRCh38]
Chr4:159605782 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) single nucleotide variant Glutaric acidemia type 2C [RCV001830709]|Multiple acyl-CoA dehydrogenase deficiency [RCV000795887] Chr4:158695501 [GRCh38]
Chr4:159616653 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.972+13C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149623] Chr4:158697712 [GRCh38]
Chr4:159618864 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000987491] Chr4:158706707 [GRCh38]
Chr4:159627859 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV000796466] Chr4:158708475..158708476 [GRCh38]
Chr4:159629627..159629628 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1690+292C>A single nucleotide variant not provided [RCV000829025] Chr4:158707142 [GRCh38]
Chr4:159628294 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) single nucleotide variant Glutaric acidemia type 2C [RCV001825593]|Multiple acyl-CoA dehydrogenase deficiency [RCV000804982] Chr4:158695512 [GRCh38]
Chr4:159616664 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000806807] Chr4:158706277 [GRCh38]
Chr4:159627429 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1286-154C>T single nucleotide variant not provided [RCV000828658] Chr4:158706035 [GRCh38]
Chr4:159627187 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+265AAG[4] microsatellite not provided [RCV000844168] Chr4:158690689..158690690 [GRCh38]
Chr4:159611841..159611842 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000816185] Chr4:158697649 [GRCh38]
Chr4:159618801 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.487+50G>A single nucleotide variant not provided [RCV000837921] Chr4:158684723 [GRCh38]
Chr4:159605875 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.11:g.(?_159601599)_(159620302_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV000799422] Chr4:158680447..158699150 [GRCh38]
Chr4:159601599..159620302 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000816683] Chr4:158695617 [GRCh38]
Chr4:159616769 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.176-237A>G single nucleotide variant not provided [RCV000835521] Chr4:158681958 [GRCh38]
Chr4:159603110 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000823480] Chr4:158695573 [GRCh38]
Chr4:159616725 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.606+10GTTTT[2] microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001279051]|not provided [RCV000841289] Chr4:158685229..158685233 [GRCh38]
Chr4:159606381..159606385 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1117-112A>G single nucleotide variant not provided [RCV000835767] Chr4:158703311 [GRCh38]
Chr4:159624463 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) single nucleotide variant ETFDH-related disorder [RCV003963089]|Multiple acyl-CoA dehydrogenase deficiency [RCV001148073] Chr4:158684600 [GRCh38]
Chr4:159605752 [GRCh37]
Chr4:4q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.241C>T (p.Leu81Phe) single nucleotide variant not provided [RCV000998312] Chr4:158682260 [GRCh38]
Chr4:159603412 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_004453.4(ETFDH):c.684+2T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000987488] Chr4:158690427 [GRCh38]
Chr4:159611579 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001246805]|not provided [RCV002307709] Chr4:158706829 [GRCh38]
Chr4:159627981 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) single nucleotide variant Glutaric acidemia IIc [RCV002255101]|Glutaric acidemia type 2C [RCV001832301]|Multiple acyl-CoA dehydrogenase deficiency [RCV000987486] Chr4:158682314 [GRCh38]
Chr4:159603466 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001069002]|not specified [RCV003490057] Chr4:158684671 [GRCh38]
Chr4:159605823 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) single nucleotide variant Inborn genetic diseases [RCV004619560]|Multiple acyl-CoA dehydrogenase deficiency [RCV001212496]|not provided [RCV003159189] Chr4:158708417 [GRCh38]
Chr4:159629569 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001237581] Chr4:158690377 [GRCh38]
Chr4:159611529 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001240138] Chr4:158706347 [GRCh38]
Chr4:159627499 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001223416] Chr4:158695581 [GRCh38]
Chr4:159616733 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1375del (p.His459fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001204189] Chr4:158706277 [GRCh38]
Chr4:159627429 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1774T>C (p.Cys592Arg) single nucleotide variant not specified [RCV003317862] Chr4:158708447 [GRCh38]
Chr4:159629599 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000987489]|not specified [RCV002222651] Chr4:158699120 [GRCh38]
Chr4:159620272 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) deletion Glutaric acidemia type 2C [RCV001827126]|Multiple acyl-CoA dehydrogenase deficiency [RCV000987492] Chr4:158706807..158706808 [GRCh38]
Chr4:159627959..159627960 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001247992] Chr4:158682372 [GRCh38]
Chr4:159603524 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.488-12A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149619] Chr4:158685089 [GRCh38]
Chr4:159606241 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.-61C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147171] Chr4:158672396 [GRCh38]
Chr4:159593548 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.34+266A>G single nucleotide variant not provided [RCV001580917] Chr4:158672756 [GRCh38]
Chr4:159593908 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405+173G>A single nucleotide variant not provided [RCV001581187] Chr4:158682597 [GRCh38]
Chr4:159603749 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.175+206dup duplication not provided [RCV001576324] Chr4:158680809..158680810 [GRCh38]
Chr4:159601961..159601962 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.406-185dup duplication not provided [RCV001569428] Chr4:158684389..158684390 [GRCh38]
Chr4:159605541..159605542 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001553623] Chr4:158703556..158703559 [GRCh38]
Chr4:159624708..159624711 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.175+98T>C single nucleotide variant not provided [RCV001555925] Chr4:158680705 [GRCh38]
Chr4:159601857 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.607-289G>A single nucleotide variant not provided [RCV001556233] Chr4:158690059 [GRCh38]
Chr4:159611211 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.12:g.158671871G>C single nucleotide variant not provided [RCV001562052] Chr4:158671871 [GRCh38]
Chr4:159593023 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+266_684+267insAGAA insertion not provided [RCV001581291] Chr4:158690689..158690690 [GRCh38]
Chr4:159611841..159611842 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.12:g.158672047A>G single nucleotide variant not provided [RCV001557441] Chr4:158672047 [GRCh38]
Chr4:159593199 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.12:g.158671796G>T single nucleotide variant not provided [RCV001696710] Chr4:158671796 [GRCh38]
Chr4:159592948 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1691-250A>G single nucleotide variant not provided [RCV001562999] Chr4:158708114 [GRCh38]
Chr4:159629266 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1690+203del deletion not provided [RCV001545859] Chr4:158707039 [GRCh38]
Chr4:159628191 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1690+203dup duplication not provided [RCV001640092] Chr4:158707038..158707039 [GRCh38]
Chr4:159628190..159628191 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1116+141A>G single nucleotide variant not provided [RCV001686367] Chr4:158699271 [GRCh38]
Chr4:159620423 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1764T>C (p.His588=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000933504] Chr4:158708437 [GRCh38]
Chr4:159629589 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.540G>T (p.Val180=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001487184] Chr4:158685153 [GRCh38]
Chr4:159606305 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001490631] Chr4:158706218 [GRCh38]
Chr4:159627370 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.399G>A (p.Glu133=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000930121] Chr4:158682418 [GRCh38]
Chr4:159603570 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001453444] Chr4:158708440 [GRCh38]
Chr4:159629592 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.36A>G (p.Ala12=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000975679] Chr4:158680468 [GRCh38]
Chr4:159601620 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.561A>G (p.Ala187=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001397188] Chr4:158685174 [GRCh38]
Chr4:159606326 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) single nucleotide variant Glutaric acidemia type 2C [RCV001833899]|Multiple acyl-CoA dehydrogenase deficiency [RCV001218979] Chr4:158680520 [GRCh38]
Chr4:159601672 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001244807] Chr4:158706339 [GRCh38]
Chr4:159627491 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) single nucleotide variant Inborn genetic diseases [RCV003246722]|Multiple acyl-CoA dehydrogenase deficiency [RCV001145313] Chr4:158706643 [GRCh38]
Chr4:159627795 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147256]|not provided [RCV001772343] Chr4:158706690 [GRCh38]
Chr4:159627842 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001243666]|not specified [RCV004690032] Chr4:158697562 [GRCh38]
Chr4:159618714 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001148072] Chr4:158682291 [GRCh38]
Chr4:159603443 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001067774] Chr4:158703423 [GRCh38]
Chr4:159624575 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001244050] Chr4:158685125 [GRCh38]
Chr4:159606277 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000935736]|not provided [RCV001545051] Chr4:158706352 [GRCh38]
Chr4:159627504 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.34+57C>A single nucleotide variant not provided [RCV001575234] Chr4:158672547 [GRCh38]
Chr4:159593699 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.606+121A>G single nucleotide variant not provided [RCV001558643] Chr4:158685340 [GRCh38]
Chr4:159606492 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1116+72T>C single nucleotide variant not provided [RCV001598303] Chr4:158699202 [GRCh38]
Chr4:159620354 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.406-185del deletion not provided [RCV001609001] Chr4:158684390 [GRCh38]
Chr4:159605542 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.831+294G>A single nucleotide variant not provided [RCV001586696] Chr4:158695937 [GRCh38]
Chr4:159617089 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405+118dup duplication not provided [RCV001560805] Chr4:158682530..158682531 [GRCh38]
Chr4:159603682..159603683 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.34+146T>A single nucleotide variant not provided [RCV001555645] Chr4:158672636 [GRCh38]
Chr4:159593788 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003106761] Chr4:158685142 [GRCh38]
Chr4:159606294 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
NM_004453.4(ETFDH):c.946G>T (p.Glu316Ter) single nucleotide variant Glutaric acidemia iic, late-onset [RCV001533541] Chr4:158697673 [GRCh38]
Chr4:159618825 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.973-8T>C single nucleotide variant Glutaric acidemia type 2C [RCV001836472]|not provided [RCV001678479] Chr4:158698979 [GRCh38]
Chr4:159620131 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149622] Chr4:158697570 [GRCh38]
Chr4:159618722 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1117-11T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001145312] Chr4:158703412 [GRCh38]
Chr4:159624564 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001050404] Chr4:158706764..158706765 [GRCh38]
Chr4:159627916..159627917 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) single nucleotide variant Glutaric acidemia type 2C [RCV001273691]|Multiple acyl-CoA dehydrogenase deficiency [RCV001045770] Chr4:158703424 [GRCh38]
Chr4:159624576 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001068689] Chr4:158697585 [GRCh38]
Chr4:159618737 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001035116] Chr4:158706715..158706716 [GRCh38]
Chr4:159627867..159627868 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001069265] Chr4:158706302 [GRCh38]
Chr4:159627454 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002573190]|not provided [RCV001564973] Chr4:158706264 [GRCh38]
Chr4:159627416 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.685-203A>G single nucleotide variant not provided [RCV001567020] Chr4:158695294 [GRCh38]
Chr4:159616446 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001145311] Chr4:158699018 [GRCh38]
Chr4:159620170 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.487+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001213999] Chr4:158684674 [GRCh38]
Chr4:159605826 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.485_487+13del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001236719] Chr4:158684671..158684686 [GRCh38]
Chr4:159605823..159605838 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001149621]|not provided [RCV002275296] Chr4:158695543 [GRCh38]
Chr4:159616695 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001058151] Chr4:158706300 [GRCh38]
Chr4:159627452 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001233109] Chr4:158684628..158684629 [GRCh38]
Chr4:159605780..159605781 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001219118] Chr4:158697697 [GRCh38]
Chr4:159618849 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001217884] Chr4:158708451..158708452 [GRCh38]
Chr4:159629603..159629604 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) single nucleotide variant Glutaric acidemia type 2C [RCV001836136]|Multiple acyl-CoA dehydrogenase deficiency [RCV001203670] Chr4:158682353 [GRCh38]
Chr4:159603505 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.176-2A>T single nucleotide variant Glutaric acidemia type 2C [RCV001833902]|Multiple acyl-CoA dehydrogenase deficiency [RCV001219278] Chr4:158682193 [GRCh38]
Chr4:159603345 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1513A>G (p.Ile505Val) single nucleotide variant not provided [RCV001171838] Chr4:158706673 [GRCh38]
Chr4:159627825 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.*67T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001147259] Chr4:158708594 [GRCh38]
Chr4:159629746 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001248026] Chr4:158682283..158682284 [GRCh38]
Chr4:159603435..159603436 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg) single nucleotide variant Glutaric acidemia type 2C [RCV001836189]|Multiple acyl-CoA dehydrogenase deficiency [RCV001233837] Chr4:158699019 [GRCh38]
Chr4:159620171 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001064802] Chr4:158697592 [GRCh38]
Chr4:159618744 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1117-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001040654] Chr4:158703422 [GRCh38]
Chr4:159624574 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) single nucleotide variant Glutaric acidemia type 2C [RCV001827320]|Multiple acyl-CoA dehydrogenase deficiency [RCV001050937] Chr4:158706353 [GRCh38]
Chr4:159627505 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001232134] Chr4:158699122 [GRCh38]
Chr4:159620274 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.207del (p.Asp70fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001063451] Chr4:158682226 [GRCh38]
Chr4:159603378 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279054] Chr4:158703584 [GRCh38]
Chr4:159624736 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279059] Chr4:158706356 [GRCh38]
Chr4:159627508 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001320015] Chr4:158708496 [GRCh38]
Chr4:159629648 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001329259]|not specified [RCV004690081] Chr4:158695598 [GRCh38]
Chr4:159616750 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001280240]|not provided [RCV001356042] Chr4:158708399 [GRCh38]
Chr4:159629551 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001280237] Chr4:158706838 [GRCh38]
Chr4:159627990 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1690+4A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001280238] Chr4:158706854 [GRCh38]
Chr4:159628006 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001383328] Chr4:158703439..158703443 [GRCh38]
Chr4:159624591..159624595 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.219A>T (p.Ile73=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001392851] Chr4:158682238 [GRCh38]
Chr4:159603390 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1377C>T (p.His459=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001414570] Chr4:158706280 [GRCh38]
Chr4:159627432 [GRCh37]
Chr4:4q32.1		 likely benign
NG_031835.1(PPID):g.103322_138659del deletion Megacolon [RCV001290052] Chr4:158620034..158710227 [GRCh38]
Chr4:159541186..159631379 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.981A>G (p.Leu327=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001395207] Chr4:158698995 [GRCh38]
Chr4:159620147 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279047] Chr4:158680493 [GRCh38]
Chr4:159601645 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279055] Chr4:158706227 [GRCh38]
Chr4:159627379 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279058] Chr4:158706352 [GRCh38]
Chr4:159627504 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1469-8T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279060] Chr4:158706621 [GRCh38]
Chr4:159627773 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.582A>G (p.Val194=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001423047] Chr4:158685195 [GRCh38]
Chr4:159606347 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001381020] Chr4:158706647 [GRCh38]
Chr4:159627799 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys) single nucleotide variant Glutaric acidemia type 2C [RCV001825932]|Multiple acyl-CoA dehydrogenase deficiency [RCV001346599] Chr4:158682275 [GRCh38]
Chr4:159603427 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001333248] Chr4:158708416 [GRCh38]
Chr4:159629568 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) single nucleotide variant ETFDH-related disorder [RCV004749641]|Multiple acyl-CoA dehydrogenase deficiency [RCV001280239]|not provided [RCV003326559] Chr4:158708365 [GRCh38]
Chr4:159629517 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val) single nucleotide variant Glutaric acidemia type 2C [RCV001836309]|Multiple acyl-CoA dehydrogenase deficiency [RCV001322087] Chr4:158706263 [GRCh38]
Chr4:159627415 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279048] Chr4:158680580 [GRCh38]
Chr4:159601732 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) single nucleotide variant Inborn genetic diseases [RCV002542914]|Multiple acyl-CoA dehydrogenase deficiency [RCV001279049] Chr4:158684610 [GRCh38]
Chr4:159605762 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279050] Chr4:158685199 [GRCh38]
Chr4:159606351 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279057] Chr4:158706281 [GRCh38]
Chr4:159627433 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001280242] Chr4:158708525 [GRCh38]
Chr4:159629677 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001317846] Chr4:158682404 [GRCh38]
Chr4:159603556 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001342748] Chr4:158706304 [GRCh38]
Chr4:159627456 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.948A>G (p.Glu316=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001347386] Chr4:158697675 [GRCh38]
Chr4:159618827 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) single nucleotide variant Glutaric acidemia type 2C [RCV001831170]|Multiple acyl-CoA dehydrogenase deficiency [RCV001351521] Chr4:158682395 [GRCh38]
Chr4:159603547 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) single nucleotide variant Glutaric acidemia type 2C [RCV001831244]|Multiple acyl-CoA dehydrogenase deficiency [RCV001363757] Chr4:158703561 [GRCh38]
Chr4:159624713 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.405+3A>G single nucleotide variant ETFDH-related disorder [RCV004749658]|Multiple acyl-CoA dehydrogenase deficiency [RCV001329258]|not provided [RCV001509240]|not specified [RCV001844286] Chr4:158682427 [GRCh38]
Chr4:159603579 [GRCh37]
Chr4:4q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) single nucleotide variant Glutaric acidemia type 2C [RCV001830164]|Multiple acyl-CoA dehydrogenase deficiency [RCV001299703] Chr4:158706239 [GRCh38]
Chr4:159627391 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) single nucleotide variant Glutaric acidemia type 2C [RCV001831229]|Multiple acyl-CoA dehydrogenase deficiency [RCV001362371]|not specified [RCV002469380] Chr4:158706236 [GRCh38]
Chr4:159627388 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001344588] Chr4:158706272 [GRCh38]
Chr4:159627424 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1		 pathogenic
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser) single nucleotide variant Glutaric acidemia type 2C [RCV001830131]|Multiple acyl-CoA dehydrogenase deficiency [RCV001296010] Chr4:158697608 [GRCh38]
Chr4:159618760 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001351196] Chr4:158682378 [GRCh38]
Chr4:159603530 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001280241] Chr4:158708431 [GRCh38]
Chr4:159629583 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001367066] Chr4:158706757 [GRCh38]
Chr4:159627909 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279046]|not provided [RCV004774375] Chr4:158672481 [GRCh38]
Chr4:159593633 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) single nucleotide variant Glutaric acidemia type 2C [RCV001836301]|Multiple acyl-CoA dehydrogenase deficiency [RCV001319011]|not provided [RCV003886502] Chr4:158680584 [GRCh38]
Chr4:159601736 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279061]|not provided [RCV004762047] Chr4:158706763 [GRCh38]
Chr4:159627915 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001279063] Chr4:158706836 [GRCh38]
Chr4:159627988 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001297627] Chr4:158697677 [GRCh38]
Chr4:159618829 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.306A>C (p.Leu102=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001394764] Chr4:158682325 [GRCh38]
Chr4:159603477 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1319A>G (p.Lys440Arg) single nucleotide variant not provided [RCV001355271]|not specified [RCV004587137] Chr4:158706222 [GRCh38]
Chr4:159627374 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.832-8T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001396396] Chr4:158697551 [GRCh38]
Chr4:159618703 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001469954] Chr4:158706193 [GRCh38]
Chr4:159627345 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002564278]|not provided [RCV001509242] Chr4:158706812 [GRCh38]
Chr4:159627964 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001404786] Chr4:158706301 [GRCh38]
Chr4:159627453 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1285+2T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001385003] Chr4:158703593 [GRCh38]
Chr4:159624745 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001478665] Chr4:158706639 [GRCh38]
Chr4:159627791 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.406-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001377957]|not provided [RCV004728693] Chr4:158684591 [GRCh38]
Chr4:159605743 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.267G>A (p.Gln89=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001487672] Chr4:158682286 [GRCh38]
Chr4:159603438 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001430755] Chr4:158706672 [GRCh38]
Chr4:159627824 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001399511] Chr4:158706271 [GRCh38]
Chr4:159627423 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.176-7C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001441782] Chr4:158682188 [GRCh38]
Chr4:159603340 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001502973] Chr4:158708407 [GRCh38]
Chr4:159629559 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001471703] Chr4:158706834 [GRCh38]
Chr4:159627986 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.654T>C (p.Asp218=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001503838] Chr4:158690395 [GRCh38]
Chr4:159611547 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001385872] Chr4:158706783 [GRCh38]
Chr4:159627935 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.117G>A (p.Val39=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001465620] Chr4:158680549 [GRCh38]
Chr4:159601701 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.27C>T (p.Ser9=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001501196] Chr4:158672483 [GRCh38]
Chr4:159593635 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.774G>A (p.Lys258=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001485686] Chr4:158695586 [GRCh38]
Chr4:159616738 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.176-5C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001501232] Chr4:158682190 [GRCh38]
Chr4:159603342 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001388893] Chr4:158703439 [GRCh38]
Chr4:159624591 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001442925] Chr4:158703558 [GRCh38]
Chr4:159624710 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1593T>C (p.His531=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001398592] Chr4:158706753 [GRCh38]
Chr4:159627905 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001379882] Chr4:158706318 [GRCh38]
Chr4:159627470 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1468+10A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001454223] Chr4:158706381 [GRCh38]
Chr4:159627533 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.342C>T (p.Leu114=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001498918] Chr4:158682361 [GRCh38]
Chr4:159603513 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.969T>G (p.Leu323=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001502165] Chr4:158697696 [GRCh38]
Chr4:159618848 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001443356] Chr4:158706268 [GRCh38]
Chr4:159627420 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.750A>T (p.Gly250=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001394281] Chr4:158695562 [GRCh38]
Chr4:159616714 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1182T>G (p.Val394=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001439880] Chr4:158703488 [GRCh38]
Chr4:159624640 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-10T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001410531] Chr4:158706179 [GRCh38]
Chr4:159627331 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001415950] Chr4:158699121 [GRCh38]
Chr4:159620273 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.607-8_607-7del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001393397] Chr4:158690340..158690341 [GRCh38]
Chr4:159611492..159611493 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) single nucleotide variant Glutaric acidemia iic, late-onset [RCV001533540]|Multiple acyl-CoA dehydrogenase deficiency [RCV001882597] Chr4:158690406 [GRCh38]
Chr4:159611558 [GRCh37]
Chr4:4q32.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.306A>G (p.Leu102=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001398425] Chr4:158682325 [GRCh38]
Chr4:159603477 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.660G>C (p.Gly220=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001423664] Chr4:158690401 [GRCh38]
Chr4:159611553 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.488-1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001377173] Chr4:158685100 [GRCh38]
Chr4:159606252 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.411_412del (p.Pro137_Leu138insTer) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001388901] Chr4:158684596..158684597 [GRCh38]
Chr4:159605748..159605749 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001447770] Chr4:158699109 [GRCh38]
Chr4:159620261 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) single nucleotide variant Glutaric acidemia type 2C [RCV001831378]|Multiple acyl-CoA dehydrogenase deficiency [RCV001380775] Chr4:158703533 [GRCh38]
Chr4:159624685 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001380776] Chr4:158706682 [GRCh38]
Chr4:159627834 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001380777] Chr4:158708436 [GRCh38]
Chr4:159629588 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.386del (p.Pro129fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001390882] Chr4:158682403 [GRCh38]
Chr4:159603555 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.291C>T (p.Asp97=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001445595] Chr4:158682310 [GRCh38]
Chr4:159603462 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.330A>C (p.Gly110=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001445901] Chr4:158682349 [GRCh38]
Chr4:159603501 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001377485] Chr4:158708456 [GRCh38]
Chr4:159629608 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001385871] Chr4:158684613..158684619 [GRCh38]
Chr4:159605765..159605771 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.939T>C (p.Asn313=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001416933] Chr4:158697666 [GRCh38]
Chr4:159618818 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.973-104A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001527526]|not provided [RCV001712955] Chr4:158698883 [GRCh38]
Chr4:159620035 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001468554] Chr4:158706274 [GRCh38]
Chr4:159627426 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001698747] Chr4:158682276 [GRCh38]
Chr4:159603428 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1199C>T (p.Thr400Ile) single nucleotide variant not provided [RCV001509241] Chr4:158703505 [GRCh38]
Chr4:159624657 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1116+10C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001457570] Chr4:158699140 [GRCh38]
Chr4:159620292 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.552C>T (p.Gly184=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001502417] Chr4:158685165 [GRCh38]
Chr4:159606317 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1117-4T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001486364] Chr4:158703419 [GRCh38]
Chr4:159624571 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-7T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001458781] Chr4:158680460 [GRCh38]
Chr4:159601612 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.285A>G (p.Glu95=) single nucleotide variant ETFDH-related disorder [RCV003921006]|Multiple acyl-CoA dehydrogenase deficiency [RCV001476468] Chr4:158682304 [GRCh38]
Chr4:159603456 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=) single nucleotide variant Glutaric acidemia type 2C [RCV001832607]|Multiple acyl-CoA dehydrogenase deficiency [RCV001465861] Chr4:158699097 [GRCh38]
Chr4:159620249 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.952C>T (p.Leu318=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001451476] Chr4:158697679 [GRCh38]
Chr4:159618831 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.492T>C (p.Leu164=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001486823] Chr4:158685105 [GRCh38]
Chr4:159606257 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001500876] Chr4:158703461 [GRCh38]
Chr4:159624613 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.834A>G (p.Leu278=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001453170] Chr4:158697561 [GRCh38]
Chr4:159618713 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001378006]|not provided [RCV001762662]|not specified [RCV003323872] Chr4:158682315 [GRCh38]
Chr4:159603467 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001435755] Chr4:158703446 [GRCh38]
Chr4:159624598 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.406-2A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001379754] Chr4:158684590 [GRCh38]
Chr4:159605742 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001484403] Chr4:158703503 [GRCh38]
Chr4:159624655 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.363A>G (p.Pro121=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001470421] Chr4:158682382 [GRCh38]
Chr4:159603534 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.709C>T (p.Leu237=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001473852] Chr4:158695521 [GRCh38]
Chr4:159616673 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.477A>T (p.Pro159=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001434344] Chr4:158684663 [GRCh38]
Chr4:159605815 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.84A>G (p.Leu28=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001434584] Chr4:158680516 [GRCh38]
Chr4:159601668 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.387A>G (p.Pro129=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001452051] Chr4:158682406 [GRCh38]
Chr4:159603558 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.973-2A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001376776] Chr4:158698985 [GRCh38]
Chr4:159620137 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.831+3A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001377216] Chr4:158695646 [GRCh38]
Chr4:159616798 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.606+1791G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001517821] Chr4:158687010 [GRCh38]
Chr4:159608162 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.183C>T (p.Asn61=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001456461] Chr4:158682202 [GRCh38]
Chr4:159603354 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.504T>C (p.Asn168=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001437399] Chr4:158685117 [GRCh38]
Chr4:159606269 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1297_1298insT (p.Thr433fs) insertion Multiple acyl-CoA dehydrogenase deficiency [RCV001384641] Chr4:158706200..158706201 [GRCh38]
Chr4:159627352..159627353 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001465190] Chr4:158706666 [GRCh38]
Chr4:159627818 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.259C>T (p.Leu87=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001482585] Chr4:158682278 [GRCh38]
Chr4:159603430 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003107145] Chr4:158682233 [GRCh38]
Chr4:159603385 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.175+1del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002032696]|not provided [RCV001727303] Chr4:158680607 [GRCh38]
Chr4:159601759 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001783210] Chr4:158706790..158706791 [GRCh38]
Chr4:159627942..159627943 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001783211] Chr4:158682414..158682418 [GRCh38]
Chr4:159603566..159603570 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1700A>C (p.Glu567Ala) single nucleotide variant not provided [RCV001767285] Chr4:158708373 [GRCh38]
Chr4:159629525 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1814T>C (p.Val605Ala) single nucleotide variant not provided [RCV001752358] Chr4:158708487 [GRCh38]
Chr4:159629639 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002543945]|not provided [RCV001762929] Chr4:158695540 [GRCh38]
Chr4:159616692 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NC_000004.12:g.158674880_158700204del deletion Megacolon [RCV001290053] Chr4:159596032..159621356 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1112T>G (p.Phe371Cys) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814448] Chr4:158699126 [GRCh38]
Chr4:159620278 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) single nucleotide variant Inborn genetic diseases [RCV004616782]|Multiple acyl-CoA dehydrogenase deficiency [RCV001869496]|not specified [RCV001806786] Chr4:158706663 [GRCh38]
Chr4:159627815 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001967748] Chr4:158706824 [GRCh38]
Chr4:159627976 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.607-1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001970838] Chr4:158690347 [GRCh38]
Chr4:159611499 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001836609] Chr4:158682245 [GRCh38]
Chr4:159603397 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NC_000004.11:g.(?_159593609)_(159616815_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001969900] Chr4:159593609..159616815 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001971135] Chr4:158706257 [GRCh38]
Chr4:159627409 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002025480] Chr4:158699069 [GRCh38]
Chr4:159620221 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1629dup (p.Ile544fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001829273] Chr4:158706788..158706789 [GRCh38]
Chr4:159627940..159627941 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001914838] Chr4:158706242 [GRCh38]
Chr4:159627394 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.405+1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001971199] Chr4:158682425 [GRCh38]
Chr4:159603577 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NC_000004.11:g.(?_159593609)_(159603596_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004580707] Chr4:159593609..159603596 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001965033] Chr4:158680498..158680499 [GRCh38]
Chr4:159601650..159601651 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001946884] Chr4:158706298 [GRCh38]
Chr4:159627450 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.832-5T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001890587] Chr4:158697554 [GRCh38]
Chr4:159618706 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001967974] Chr4:158697664 [GRCh38]
Chr4:159618816 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002005554] Chr4:158682368 [GRCh38]
Chr4:159603520 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1286-15T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001890509] Chr4:158706174 [GRCh38]
Chr4:159627326 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001946067] Chr4:158708393 [GRCh38]
Chr4:159629545 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001928266] Chr4:158682284 [GRCh38]
Chr4:159603436 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001964794] Chr4:158703450 [GRCh38]
Chr4:159624602 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001946803] Chr4:158708372 [GRCh38]
Chr4:159629524 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(159593643_159601618)_(159620283_159624574)dup duplication not specified [RCV001844609] Chr4:159601618..159620283 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001986385] Chr4:158690383 [GRCh38]
Chr4:159611535 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001970056] Chr4:158682288 [GRCh38]
Chr4:159603440 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002006312] Chr4:158680601 [GRCh38]
Chr4:159601753 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001912048] Chr4:158706671..158706672 [GRCh38]
Chr4:159627823..159627824 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002007423] Chr4:158706366..158706367 [GRCh38]
Chr4:159627518..159627519 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001928034] Chr4:158699023 [GRCh38]
Chr4:159620175 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln) single nucleotide variant Inborn genetic diseases [RCV004616823]|Multiple acyl-CoA dehydrogenase deficiency [RCV001889729] Chr4:158697667 [GRCh38]
Chr4:159618819 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002020626] Chr4:158708412 [GRCh38]
Chr4:159629564 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001943841] Chr4:158697679 [GRCh38]
Chr4:159618831 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001963736] Chr4:158680584 [GRCh38]
Chr4:159601736 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001944614]|not specified [RCV003487810] Chr4:158706234 [GRCh38]
Chr4:159627386 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001999050] Chr4:158706269 [GRCh38]
Chr4:159627421 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.323_324insT (p.Gln108fs) insertion Multiple acyl-CoA dehydrogenase deficiency [RCV001925115] Chr4:158682342..158682343 [GRCh38]
Chr4:159603494..159603495 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001991735] Chr4:158680586 [GRCh38]
Chr4:159601738 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001887507] Chr4:158699050 [GRCh38]
Chr4:159620202 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002000652] Chr4:158695618 [GRCh38]
Chr4:159616770 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002038367] Chr4:158690393 [GRCh38]
Chr4:159611545 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002000660] Chr4:158699113 [GRCh38]
Chr4:159620265 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001941612] Chr4:158697599 [GRCh38]
Chr4:159618751 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_159611480)_(159620302_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001963200] Chr4:159611480..159620302 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002038411] Chr4:158708501 [GRCh38]
Chr4:159629653 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002049210] Chr4:158684649 [GRCh38]
Chr4:159605801 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001976471]|not provided [RCV004774578] Chr4:158706674 [GRCh38]
Chr4:159627826 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001972651] Chr4:158680595..158680596 [GRCh38]
Chr4:159601747..159601748 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002028365] Chr4:158680583 [GRCh38]
Chr4:159601735 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002027116] Chr4:158706817 [GRCh38]
Chr4:159627969 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001971822] Chr4:158706334 [GRCh38]
Chr4:159627486 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001919576] Chr4:158680530 [GRCh38]
Chr4:159601682 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002013568]|not provided [RCV003886547] Chr4:158706746 [GRCh38]
Chr4:159627898 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001995333] Chr4:158682369 [GRCh38]
Chr4:159603521 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001901387] Chr4:158699013 [GRCh38]
Chr4:159620165 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001878326] Chr4:158685182 [GRCh38]
Chr4:159606334 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.34+5G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001994257] Chr4:158672495 [GRCh38]
Chr4:159593647 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001993214] Chr4:158706281 [GRCh38]
Chr4:159627433 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001951472] Chr4:158682363 [GRCh38]
Chr4:159603515 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001902412] Chr4:158706809..158706810 [GRCh38]
Chr4:159627961..159627962 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001972579] Chr4:158703539 [GRCh38]
Chr4:159624691 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002036726] Chr4:158708484 [GRCh38]
Chr4:159629636 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln) indel Multiple acyl-CoA dehydrogenase deficiency [RCV001997661] Chr4:158685200..158685201 [GRCh38]
Chr4:159606352..159606353 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001995782] Chr4:158699080 [GRCh38]
Chr4:159620232 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001937169] Chr4:158682290 [GRCh38]
Chr4:159603442 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001881500] Chr4:158680487 [GRCh38]
Chr4:159601639 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001980762] Chr4:158680584 [GRCh38]
Chr4:159601736 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001915605] Chr4:158684640 [GRCh38]
Chr4:159605792 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001934241] Chr4:158680571 [GRCh38]
Chr4:159601723 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002035269] Chr4:158682270 [GRCh38]
Chr4:159603422 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001994364] Chr4:158708459 [GRCh38]
Chr4:159629611 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001881829] Chr4:158706699 [GRCh38]
Chr4:159627851 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001938288] Chr4:158706826 [GRCh38]
Chr4:159627978 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.606+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002034132] Chr4:158685220 [GRCh38]
Chr4:159606372 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001975432] Chr4:158708489 [GRCh38]
Chr4:159629641 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002018369] Chr4:158708483 [GRCh38]
Chr4:159629635 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002035300] Chr4:158706336 [GRCh38]
Chr4:159627488 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001988925] Chr4:158708435 [GRCh38]
Chr4:159629587 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001951856] Chr4:158699075 [GRCh38]
Chr4:159620227 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.472G>A (p.Val158Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001990063] Chr4:158684658 [GRCh38]
Chr4:159605810 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001956573] Chr4:158706360 [GRCh38]
Chr4:159627512 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001951158] Chr4:158682399 [GRCh38]
Chr4:159603551 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu) single nucleotide variant Inborn genetic diseases [RCV003289338]|Multiple acyl-CoA dehydrogenase deficiency [RCV001974102] Chr4:158708486 [GRCh38]
Chr4:159629638 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001993763] Chr4:158699075 [GRCh38]
Chr4:159620227 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002017019] Chr4:158682315 [GRCh38]
Chr4:159603467 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NC_000004.11:g.(?_159593609)_(159629679_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001879369] Chr4:159593609..159629679 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001989535] Chr4:158699096 [GRCh38]
Chr4:159620248 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001916390] Chr4:158682371 [GRCh38]
Chr4:159603523 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001935533]|not specified [RCV003323953] Chr4:158699006 [GRCh38]
Chr4:159620158 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002012925] Chr4:158699015 [GRCh38]
Chr4:159620167 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln) single nucleotide variant Inborn genetic diseases [RCV004616985]|Multiple acyl-CoA dehydrogenase deficiency [RCV002210294]|not provided [RCV002261450] Chr4:158680554 [GRCh38]
Chr4:159601706 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002190170] Chr4:158708473 [GRCh38]
Chr4:159629625 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.606+10G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002072378] Chr4:158685229 [GRCh38]
Chr4:159606381 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1690+20C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002146863] Chr4:158706870 [GRCh38]
Chr4:159628022 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+8A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002205961] Chr4:158706379 [GRCh38]
Chr4:159627531 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002186514] Chr4:158706720 [GRCh38]
Chr4:159627872 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002106437] Chr4:158706226 [GRCh38]
Chr4:159627378 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.906T>C (p.His302=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002128998] Chr4:158697633 [GRCh38]
Chr4:159618785 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.933T>C (p.His311=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002112529] Chr4:158697660 [GRCh38]
Chr4:159618812 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-8_1691-2dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002167097] Chr4:158708354..158708355 [GRCh38]
Chr4:159629506..159629507 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.108T>G (p.Thr36=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002144948] Chr4:158680540 [GRCh38]
Chr4:159601692 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-6G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002087039] Chr4:158680461 [GRCh38]
Chr4:159601613 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.21G>A (p.Lys7=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002110211] Chr4:158672477 [GRCh38]
Chr4:159593629 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.567C>T (p.Ala189=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002090578] Chr4:158685180 [GRCh38]
Chr4:159606332 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.477A>G (p.Pro159=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002109019] Chr4:158684663 [GRCh38]
Chr4:159605815 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.975T>C (p.Val325=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002207660] Chr4:158698989 [GRCh38]
Chr4:159620141 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002086356] Chr4:158703515 [GRCh38]
Chr4:159624667 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002191128] Chr4:158699070 [GRCh38]
Chr4:159620222 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.879C>T (p.His293=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002185190] Chr4:158697606 [GRCh38]
Chr4:159618758 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002148390] Chr4:158706720 [GRCh38]
Chr4:159627872 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.966T>C (p.Gly322=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002187194] Chr4:158697693 [GRCh38]
Chr4:159618845 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.175+18T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002209932] Chr4:158680625 [GRCh38]
Chr4:159601777 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-3dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002129825] Chr4:158697543..158697544 [GRCh38]
Chr4:159618695..159618696 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.35-6G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002078295] Chr4:158680461 [GRCh38]
Chr4:159601613 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1469-19T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002094641] Chr4:158706610 [GRCh38]
Chr4:159627762 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.300G>A (p.Val100=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002208025] Chr4:158682319 [GRCh38]
Chr4:159603471 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002096346] Chr4:158706819 [GRCh38]
Chr4:159627971 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.606+14T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002175010] Chr4:158685233 [GRCh38]
Chr4:159606385 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.768A>G (p.Leu256=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002115028]|not provided [RCV003886567] Chr4:158695580 [GRCh38]
Chr4:159616732 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1815A>G (p.Val605=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002115043]|not provided [RCV004711857] Chr4:158708488 [GRCh38]
Chr4:159629640 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002134084] Chr4:158708398 [GRCh38]
Chr4:159629550 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.510C>G (p.Gly170=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002167730] Chr4:158685123 [GRCh38]
Chr4:159606275 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.924C>T (p.Phe308=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002090022] Chr4:158697651 [GRCh38]
Chr4:159618803 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002079076] Chr4:158706822 [GRCh38]
Chr4:159627974 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002090470] Chr4:158699016 [GRCh38]
Chr4:159620168 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.558A>G (p.Gln186=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002116928] Chr4:158685171 [GRCh38]
Chr4:159606323 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002078007] Chr4:158706663 [GRCh38]
Chr4:159627815 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-19T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002093840] Chr4:158697540 [GRCh38]
Chr4:159618692 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002080023] Chr4:158706229 [GRCh38]
Chr4:159627381 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002094057] Chr4:158706744 [GRCh38]
Chr4:159627896 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002167386] Chr4:158706813 [GRCh38]
Chr4:159627965 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.270G>A (p.Leu90=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002106863] Chr4:158682289 [GRCh38]
Chr4:159603441 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.175+15G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002208500] Chr4:158680622 [GRCh38]
Chr4:159601774 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.867G>A (p.Gly289=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002215573] Chr4:158697594 [GRCh38]
Chr4:159618746 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+8A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002134538] Chr4:158697707 [GRCh38]
Chr4:159618859 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.630T>C (p.Ser210=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002185508] Chr4:158690371 [GRCh38]
Chr4:159611523 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002199547] Chr4:158697639 [GRCh38]
Chr4:159618791 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+12_1468+13del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002103908] Chr4:158706383..158706384 [GRCh38]
Chr4:159627535..159627536 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003460029] Chr4:158699044..158699047 [GRCh38]
Chr4:159620196..159620199 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002202167] Chr4:158706825 [GRCh38]
Chr4:159627977 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.777G>A (p.Lys259=) single nucleotide variant ETFDH-related disorder [RCV003971084]|Multiple acyl-CoA dehydrogenase deficiency [RCV002140070] Chr4:158695589 [GRCh38]
Chr4:159616741 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002219554] Chr4:158699112 [GRCh38]
Chr4:159620264 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405+13G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002119702] Chr4:158682437 [GRCh38]
Chr4:159603589 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+8A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002218824] Chr4:158684681 [GRCh38]
Chr4:159605833 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+10A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002216918] Chr4:158697709 [GRCh38]
Chr4:159618861 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-16A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002177717] Chr4:158706173 [GRCh38]
Chr4:159627325 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002082289] Chr4:158708389 [GRCh38]
Chr4:159629541 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.738A>G (p.Glu246=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002176692] Chr4:158695550 [GRCh38]
Chr4:159616702 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.726A>G (p.Thr242=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002162771] Chr4:158695538 [GRCh38]
Chr4:159616690 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.6G>C (p.Leu2=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002144170] Chr4:158672462 [GRCh38]
Chr4:159593614 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.243C>G (p.Leu81=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002220362] Chr4:158682262 [GRCh38]
Chr4:159603414 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1293T>C (p.His431=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002099220] Chr4:158706196 [GRCh38]
Chr4:159627348 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002201025] Chr4:158706335 [GRCh38]
Chr4:159627487 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.870A>G (p.Arg290=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002159517] Chr4:158697597 [GRCh38]
Chr4:159618749 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-8T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002220644] Chr4:158680459 [GRCh38]
Chr4:159601611 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-15G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002140540] Chr4:158680452 [GRCh38]
Chr4:159601604 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002201636] Chr4:158706702 [GRCh38]
Chr4:159627854 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.488-12A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002097895] Chr4:158685089 [GRCh38]
Chr4:159606241 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002156279] Chr4:158708371 [GRCh38]
Chr4:159629523 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.411A>C (p.Pro137=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002219495] Chr4:158684597 [GRCh38]
Chr4:159605749 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002157413] Chr4:158699103 [GRCh38]
Chr4:159620255 [GRCh37]
Chr4:4q32.1		 likely benign
NC_000004.11:g.(?_159593534)_(159629689_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003113485] Chr4:159593534..159629689 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_159606119)_(159616730_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003113486] Chr4:159606119..159616730 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_159616098)_(159618829_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003113487] Chr4:159616098..159618829 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1285+17T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003114857] Chr4:158703608 [GRCh38]
Chr4:159624760 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003112264] Chr4:158697667 [GRCh38]
Chr4:159618819 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003118818] Chr4:158706786 [GRCh38]
Chr4:159627938 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003153148] Chr4:158682362 [GRCh38]
Chr4:159603514 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.832-3del deletion not provided [RCV002259481] Chr4:158697544 [GRCh38]
Chr4:159618696 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.2T>G (p.Met1Arg) single nucleotide variant See cases [RCV003233000] Chr4:158672458 [GRCh38]
Chr4:159593610 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002283773] Chr4:158684596 [GRCh38]
Chr4:159605748 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1469G>C (p.Gly490Ala) single nucleotide variant not specified [RCV002266393] Chr4:158706629 [GRCh38]
Chr4:159627781 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002289474] Chr4:158695596 [GRCh38]
Chr4:159616748 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002283899] Chr4:158699088 [GRCh38]
Chr4:159620240 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002289153] Chr4:158706368 [GRCh38]
Chr4:159627520 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002284040] Chr4:158706733 [GRCh38]
Chr4:159627885 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.626G>A (p.Gly209Asp) single nucleotide variant not provided [RCV002263365] Chr4:158690367 [GRCh38]
Chr4:159611519 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.684+1G>T single nucleotide variant not provided [RCV002281682] Chr4:158690426 [GRCh38]
Chr4:159611578 [GRCh37]
Chr4:4q32.1		 not provided
NM_004453.4(ETFDH):c.911A>G (p.Tyr304Cys) single nucleotide variant Myopathy [RCV002463857] Chr4:158697638 [GRCh38]
Chr4:159618790 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1813dup (p.Val605fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002283362] Chr4:158708484..158708485 [GRCh38]
Chr4:159629636..159629637 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002471536] Chr4:158706812 [GRCh38]
Chr4:159627964 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3 copy number gain not provided [RCV002473486] Chr4:158682606..159762612 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1550A>T (p.Asp517Val) single nucleotide variant Myopathy [RCV002463858] Chr4:158706710 [GRCh38]
Chr4:159627862 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002304941] Chr4:158697614 [GRCh38]
Chr4:159618766 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.339T>G (p.Thr113=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002815246] Chr4:158682358 [GRCh38]
Chr4:159603510 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003095440] Chr4:158703550 [GRCh38]
Chr4:159624702 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.607-12del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003013479] Chr4:158690331 [GRCh38]
Chr4:159611483 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003073558] Chr4:158706699 [GRCh38]
Chr4:159627851 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.831+2T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002750611] Chr4:158695645 [GRCh38]
Chr4:159616797 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002775712] Chr4:158680478 [GRCh38]
Chr4:159601630 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002843226] Chr4:158708507 [GRCh38]
Chr4:159629659 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.831+6C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002907981] Chr4:158695649 [GRCh38]
Chr4:159616801 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.42G>C (p.Gln14His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002618350] Chr4:158680474 [GRCh38]
Chr4:159601626 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.406-5T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002948090] Chr4:158684587 [GRCh38]
Chr4:159605739 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002947317] Chr4:158699040 [GRCh38]
Chr4:159620192 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002756120] Chr4:158706840 [GRCh38]
Chr4:159627992 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1690+2T>G single nucleotide variant ETFDH-related disorder [RCV003408283]|Multiple acyl-CoA dehydrogenase deficiency [RCV003103104]|not provided [RCV002461618] Chr4:158706852 [GRCh38]
Chr4:159628004 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002908245] Chr4:158682288 [GRCh38]
Chr4:159603440 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.973-13G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003076088] Chr4:158698974 [GRCh38]
Chr4:159620126 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002903254] Chr4:158699130 [GRCh38]
Chr4:159620282 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.54C>T (p.Ala18=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002843073] Chr4:158680486 [GRCh38]
Chr4:159601638 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.203A>C (p.Glu68Ala) single nucleotide variant Inborn genetic diseases [RCV002902624] Chr4:158682222 [GRCh38]
Chr4:159603374 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1517A>G (p.Glu506Gly) single nucleotide variant Inborn genetic diseases [RCV002859993] Chr4:158706677 [GRCh38]
Chr4:159627829 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.869G>A (p.Arg290Lys) single nucleotide variant Inborn genetic diseases [RCV002905286] Chr4:158697596 [GRCh38]
Chr4:159618748 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1690+18T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003014250] Chr4:158706868 [GRCh38]
Chr4:159628020 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-15T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002857890] Chr4:158706174 [GRCh38]
Chr4:159627326 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002730335] Chr4:158699009 [GRCh38]
Chr4:159620161 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.180G>A (p.Val60=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002907680] Chr4:158682199 [GRCh38]
Chr4:159603351 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003034718] Chr4:158706292 [GRCh38]
Chr4:159627444 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002730141] Chr4:158706788 [GRCh38]
Chr4:159627940 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.282T>C (p.His94=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003015209] Chr4:158682301 [GRCh38]
Chr4:159603453 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002750721] Chr4:158706303 [GRCh38]
Chr4:159627455 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003034796] Chr4:158706319 [GRCh38]
Chr4:159627471 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.288G>A (p.Lys96=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002735908] Chr4:158682307 [GRCh38]
Chr4:159603459 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys) single nucleotide variant Inborn genetic diseases [RCV003162083]|Multiple acyl-CoA dehydrogenase deficiency [RCV002638328] Chr4:158685166 [GRCh38]
Chr4:159606318 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.348G>A (p.Gly116=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002761673] Chr4:158682367 [GRCh38]
Chr4:159603519 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-18T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002619453] Chr4:158680449 [GRCh38]
Chr4:159601601 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.687A>G (p.Ala229=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002846485] Chr4:158695499 [GRCh38]
Chr4:159616651 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002640410] Chr4:158706814 [GRCh38]
Chr4:159627966 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002786135] Chr4:158706775 [GRCh38]
Chr4:159627927 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.684+6C>T single nucleotide variant Inborn genetic diseases [RCV002870516] Chr4:158690431 [GRCh38]
Chr4:159611583 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1469-18C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002735988] Chr4:158706611 [GRCh38]
Chr4:159627763 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.831+18T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002885135] Chr4:158695661 [GRCh38]
Chr4:159616813 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002638105] Chr4:158682339 [GRCh38]
Chr4:159603491 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1117-2A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003079056] Chr4:158703421 [GRCh38]
Chr4:159624573 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003037710] Chr4:158706717 [GRCh38]
Chr4:159627869 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs) insertion Multiple acyl-CoA dehydrogenase deficiency [RCV002760181] Chr4:158706787..158706788 [GRCh38]
Chr4:159627939..159627940 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002590696] Chr4:158706820 [GRCh38]
Chr4:159627972 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002885704] Chr4:158706212 [GRCh38]
Chr4:159627364 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.606+13T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002824520] Chr4:158685232 [GRCh38]
Chr4:159606384 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002622377] Chr4:158708446 [GRCh38]
Chr4:159629598 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+1del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002913618] Chr4:158697699 [GRCh38]
Chr4:159618851 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002824782] Chr4:158703562 [GRCh38]
Chr4:159624714 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003052968] Chr4:158708466 [GRCh38]
Chr4:159629618 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002846655] Chr4:158685124 [GRCh38]
Chr4:159606276 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002622461] Chr4:158697661 [GRCh38]
Chr4:159618813 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA indel Multiple acyl-CoA dehydrogenase deficiency [RCV002870845] Chr4:158708362..158708363 [GRCh38]
Chr4:159629514..159629515 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1116+13A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003081262] Chr4:158699143 [GRCh38]
Chr4:159620295 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002592879] Chr4:158682392 [GRCh38]
Chr4:159603544 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002662501] Chr4:158708432 [GRCh38]
Chr4:159629584 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.423T>A (p.Pro141=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003019073] Chr4:158684609 [GRCh38]
Chr4:159605761 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003019108] Chr4:158706789 [GRCh38]
Chr4:159627941 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+16A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002596162] Chr4:158697715 [GRCh38]
Chr4:159618867 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002663952] Chr4:158706644 [GRCh38]
Chr4:159627796 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002700802] Chr4:158685199 [GRCh38]
Chr4:159606351 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003043185] Chr4:158703516 [GRCh38]
Chr4:159624668 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.927C>G (p.Leu309=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002700298] Chr4:158697654 [GRCh38]
Chr4:159618806 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala) single nucleotide variant Inborn genetic diseases [RCV004621739]|Multiple acyl-CoA dehydrogenase deficiency [RCV002623852] Chr4:158699068 [GRCh38]
Chr4:159620220 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002828184] Chr4:158706238 [GRCh38]
Chr4:159627390 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002664351] Chr4:158706287 [GRCh38]
Chr4:159627439 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003041289] Chr4:158708521 [GRCh38]
Chr4:159629673 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.590G>T (p.Gly197Val) single nucleotide variant Inborn genetic diseases [RCV002742590] Chr4:158685203 [GRCh38]
Chr4:159606355 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002801684] Chr4:158703582 [GRCh38]
Chr4:159624734 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002625093] Chr4:158698997 [GRCh38]
Chr4:159620149 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.675T>C (p.Gly225=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002851008] Chr4:158690416 [GRCh38]
Chr4:159611568 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002851906] Chr4:158706645 [GRCh38]
Chr4:159627797 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002664352] Chr4:158706835 [GRCh38]
Chr4:159627987 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.468dup (p.Pro157fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002851115] Chr4:158684652..158684653 [GRCh38]
Chr4:159605804..159605805 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002664362] Chr4:158708514..158708515 [GRCh38]
Chr4:159629666..159629667 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002740574] Chr4:158706741 [GRCh38]
Chr4:159627893 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003023201] Chr4:158703450 [GRCh38]
Chr4:159624602 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002830247] Chr4:158680604 [GRCh38]
Chr4:159601756 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003023267] Chr4:158708471 [GRCh38]
Chr4:159629623 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.942A>G (p.Glu314=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003008075] Chr4:158697669 [GRCh38]
Chr4:159618821 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-4T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003057541] Chr4:158708360 [GRCh38]
Chr4:159629512 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.954A>G (p.Leu318=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002595810] Chr4:158697681 [GRCh38]
Chr4:159618833 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002928699] Chr4:158682398 [GRCh38]
Chr4:159603550 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.358G>C (p.Asp120His) single nucleotide variant Inborn genetic diseases [RCV003269443]|Multiple acyl-CoA dehydrogenase deficiency [RCV003082035] Chr4:158682377 [GRCh38]
Chr4:159603529 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1286-13T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002626014] Chr4:158706176 [GRCh38]
Chr4:159627328 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.234T>A (p.Pro78=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003059235] Chr4:158682253 [GRCh38]
Chr4:159603405 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-4G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002710921] Chr4:158680463 [GRCh38]
Chr4:159601615 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.897G>A (p.Leu299=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002786581] Chr4:158697624 [GRCh38]
Chr4:159618776 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.691T>G (p.Phe231Val) single nucleotide variant Inborn genetic diseases [RCV002742984] Chr4:158695503 [GRCh38]
Chr4:159616655 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002829695] Chr4:158706632 [GRCh38]
Chr4:159627784 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1469-7G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003040234] Chr4:158706622 [GRCh38]
Chr4:159627774 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002651861] Chr4:158703591 [GRCh38]
Chr4:159624743 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002651860] Chr4:158703587..158703588 [GRCh38]
Chr4:159624739..159624740 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002651859] Chr4:158699051 [GRCh38]
Chr4:159620203 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002632487] Chr4:158703426 [GRCh38]
Chr4:159624578 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.607-7T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002632499] Chr4:158690341 [GRCh38]
Chr4:159611493 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.34+17G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002720382] Chr4:158672507 [GRCh38]
Chr4:159593659 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.607-9C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003031998] Chr4:158690339 [GRCh38]
Chr4:159611491 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002651856] Chr4:158672459 [GRCh38]
Chr4:159593611 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu) single nucleotide variant Inborn genetic diseases [RCV004617119]|Multiple acyl-CoA dehydrogenase deficiency [RCV002941867]|not provided [RCV003320904] Chr4:158708384 [GRCh38]
Chr4:159629536 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004453.4(ETFDH):c.34+5G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002627395] Chr4:158672495 [GRCh38]
Chr4:159593647 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.405+19dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV002631543] Chr4:158682437..158682438 [GRCh38]
Chr4:159603589..159603590 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003061551]|not specified [RCV003235766] Chr4:158684598 [GRCh38]
Chr4:159605750 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003089362] Chr4:158695625 [GRCh38]
Chr4:159616777 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.685-4del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003088671] Chr4:158695490 [GRCh38]
Chr4:159616642 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002646242] Chr4:158699107 [GRCh38]
Chr4:159620259 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003028561] Chr4:158706810 [GRCh38]
Chr4:159627962 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.175+19A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002599937] Chr4:158680626 [GRCh38]
Chr4:159601778 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+7C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002899511] Chr4:158706378 [GRCh38]
Chr4:159627530 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002805939] Chr4:158680596 [GRCh38]
Chr4:159601748 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003026766] Chr4:158706747 [GRCh38]
Chr4:159627899 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.487+9T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002805952] Chr4:158684682 [GRCh38]
Chr4:159605834 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+16G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003030598] Chr4:158706387 [GRCh38]
Chr4:159627539 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.624T>C (p.Asp208=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002806780] Chr4:158690365 [GRCh38]
Chr4:159611517 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.672T>C (p.Asp224=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002672191] Chr4:158690413 [GRCh38]
Chr4:159611565 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.114T>C (p.Thr38=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002834305] Chr4:158680546 [GRCh38]
Chr4:159601698 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002938830] Chr4:158708378 [GRCh38]
Chr4:159629530 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003086052] Chr4:158680557 [GRCh38]
Chr4:159601709 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.420T>C (p.Thr140=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003063917] Chr4:158684606 [GRCh38]
Chr4:159605758 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-14_1691-9del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002716469] Chr4:158708346..158708351 [GRCh38]
Chr4:159629498..159629503 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.129T>C (p.Thr43=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003090078] Chr4:158680561 [GRCh38]
Chr4:159601713 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002877044] Chr4:158706756 [GRCh38]
Chr4:159627908 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-12T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002647711] Chr4:158706177 [GRCh38]
Chr4:159627329 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002720947] Chr4:158706742 [GRCh38]
Chr4:159627894 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.312G>A (p.Glu104=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002856365] Chr4:158682331 [GRCh38]
Chr4:159603483 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002651857] Chr4:158684595 [GRCh38]
Chr4:159605747 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002651858] Chr4:158690384 [GRCh38]
Chr4:159611536 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.783T>C (p.Asp261=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002834318] Chr4:158695595 [GRCh38]
Chr4:159616747 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.685-9G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002646730] Chr4:158695488 [GRCh38]
Chr4:159616640 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405+11T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002631294] Chr4:158682435 [GRCh38]
Chr4:159603587 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003089794] Chr4:158708507 [GRCh38]
Chr4:159629659 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003051365] Chr4:158708423 [GRCh38]
Chr4:159629575 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.471T>C (p.Pro157=) single nucleotide variant ETFDH-related disorder [RCV003898449]|Multiple acyl-CoA dehydrogenase deficiency [RCV002605146] Chr4:158684657 [GRCh38]
Chr4:159605809 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002604067] Chr4:158703484 [GRCh38]
Chr4:159624636 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003052510] Chr4:158695630 [GRCh38]
Chr4:159616782 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002604150] Chr4:158699064 [GRCh38]
Chr4:159620216 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002654934] Chr4:158706791 [GRCh38]
Chr4:159627943 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.277G>A (p.Ala93Thr) single nucleotide variant Inborn genetic diseases [RCV002814110] Chr4:158682296 [GRCh38]
Chr4:159603448 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002584042] Chr4:158703575 [GRCh38]
Chr4:159624727 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002588806] Chr4:158680475 [GRCh38]
Chr4:159601627 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002603372] Chr4:158703448 [GRCh38]
Chr4:159624600 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.540G>C (p.Val180=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002633636] Chr4:158685153 [GRCh38]
Chr4:159606305 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003073032] Chr4:158690349 [GRCh38]
Chr4:159611501 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.714T>C (p.His238=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002633312] Chr4:158695526 [GRCh38]
Chr4:159616678 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-16C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003066875] Chr4:158680451 [GRCh38]
Chr4:159601603 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002943844] Chr4:158680532 [GRCh38]
Chr4:159601684 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002585181] Chr4:158690396 [GRCh38]
Chr4:159611548 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002611312] Chr4:158695509 [GRCh38]
Chr4:159616661 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002942254] Chr4:158706765 [GRCh38]
Chr4:159627917 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+14A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002610600] Chr4:158684687 [GRCh38]
Chr4:159605839 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002582381] Chr4:158706335 [GRCh38]
Chr4:159627487 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002612761] Chr4:158706701 [GRCh38]
Chr4:159627853 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs) indel Multiple acyl-CoA dehydrogenase deficiency [RCV003145011] Chr4:158706631..158706633 [GRCh38]
Chr4:159627783..159627785 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.32T>C (p.Leu11Pro) single nucleotide variant not provided [RCV003154470] Chr4:158672488 [GRCh38]
Chr4:159593640 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.518T>C (p.Ile173Thr) single nucleotide variant not provided [RCV003227334] Chr4:158685131 [GRCh38]
Chr4:159606283 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1740G>C (p.Gln580His) single nucleotide variant Inborn genetic diseases [RCV003302590] Chr4:158708413 [GRCh38]
Chr4:159629565 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003147133] Chr4:158706768..158706773 [GRCh38]
Chr4:159627920..159627925 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003448784] Chr4:158685162 [GRCh38]
Chr4:159606314 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003340802] Chr4:158682210 [GRCh38]
Chr4:159603362 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1818T>C (p.Pro606=) single nucleotide variant not provided [RCV003334268] Chr4:158708491 [GRCh38]
Chr4:159629643 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003467945] Chr4:158708372 [GRCh38]
Chr4:159629524 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625649] Chr4:158703563 [GRCh38]
Chr4:159624715 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625653] Chr4:158706801 [GRCh38]
Chr4:159627953 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.336_345del (p.His112fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476368] Chr4:158682351..158682360 [GRCh38]
Chr4:159603503..159603512 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.607-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476370] Chr4:158690347 [GRCh38]
Chr4:159611499 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.606+1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476381] Chr4:158685220 [GRCh38]
Chr4:159606372 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512255] Chr4:158706762 [GRCh38]
Chr4:159627914 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.34+11A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624998] Chr4:158672501 [GRCh38]
Chr4:159593653 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003467946] Chr4:158706263..158706264 [GRCh38]
Chr4:159627415..159627416 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.973-19A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624539] Chr4:158698968 [GRCh38]
Chr4:159620120 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625320] Chr4:158682259..158682260 [GRCh38]
Chr4:159603411..159603412 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.243C>A (p.Leu81=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625321] Chr4:158682262 [GRCh38]
Chr4:159603414 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.383del (p.Phe128fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625322] Chr4:158682401 [GRCh38]
Chr4:159603553 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625323] Chr4:158685190 [GRCh38]
Chr4:159606342 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004574051]|not specified [RCV003479669] Chr4:158685121 [GRCh38]
Chr4:159606273 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625882] Chr4:158684615..158684616 [GRCh38]
Chr4:159605767..159605768 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623908] Chr4:158706723 [GRCh38]
Chr4:159627875 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476364] Chr4:158697647 [GRCh38]
Chr4:159618799 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476376] Chr4:158706350..158706357 [GRCh38]
Chr4:159627502..159627509 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476383] Chr4:158682412 [GRCh38]
Chr4:159603564 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.723del (p.Thr242fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476395] Chr4:158695535 [GRCh38]
Chr4:159616687 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.34+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476396] Chr4:158672491 [GRCh38]
Chr4:159593643 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003476397] Chr4:158703546..158703547 [GRCh38]
Chr4:159624698..159624699 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625357] Chr4:158706251..158706252 [GRCh38]
Chr4:159627403..159627404 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.176-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625705] Chr4:158682194 [GRCh38]
Chr4:159603346 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625067] Chr4:158682254 [GRCh38]
Chr4:159603406 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.406-13_406-11del microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003624308] Chr4:158684574..158684576 [GRCh38]
Chr4:159605726..159605728 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625083] Chr4:158690379 [GRCh38]
Chr4:159611531 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.807A>G (p.Gln269=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624008] Chr4:158695619 [GRCh38]
Chr4:159616771 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+8A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624024] Chr4:158684681 [GRCh38]
Chr4:159605833 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1469-4G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625412] Chr4:158706625 [GRCh38]
Chr4:159627777 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.24G>T (p.Leu8=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625448] Chr4:158672480 [GRCh38]
Chr4:159593632 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+15A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624141] Chr4:158684688 [GRCh38]
Chr4:159605840 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.831+8G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624143] Chr4:158695651 [GRCh38]
Chr4:159616803 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.176-20A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624076] Chr4:158682175 [GRCh38]
Chr4:159603327 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.909C>T (p.Thr303=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624173] Chr4:158697636 [GRCh38]
Chr4:159618788 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.471T>G (p.Pro157=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624214] Chr4:158684657 [GRCh38]
Chr4:159605809 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+11T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625456] Chr4:158697710 [GRCh38]
Chr4:159618862 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+20G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625458] Chr4:158706391 [GRCh38]
Chr4:159627543 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624201] Chr4:158706301 [GRCh38]
Chr4:159627453 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1285+14G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624661] Chr4:158703605 [GRCh38]
Chr4:159624757 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1332A>G (p.Val444=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624356] Chr4:158706235 [GRCh38]
Chr4:159627387 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624575] Chr4:158706331 [GRCh38]
Chr4:159627483 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625473] Chr4:158706837 [GRCh38]
Chr4:159627989 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.426A>C (p.Val142=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625683] Chr4:158684612 [GRCh38]
Chr4:159605764 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.936G>A (p.Leu312=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625733] Chr4:158697663 [GRCh38]
Chr4:159618815 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.406-19T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625736] Chr4:158684573 [GRCh38]
Chr4:159605725 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.823C>T (p.Leu275=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624247] Chr4:158695635 [GRCh38]
Chr4:159616787 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624697] Chr4:158695537 [GRCh38]
Chr4:159616689 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.40del (p.Gln14fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003624590] Chr4:158680472 [GRCh38]
Chr4:159601624 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.176-4C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624637] Chr4:158682191 [GRCh38]
Chr4:159603343 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.15A>G (p.Leu5=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625177] Chr4:158672471 [GRCh38]
Chr4:159593623 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623910] Chr4:158706759 [GRCh38]
Chr4:159627911 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-20T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624067] Chr4:158680447 [GRCh38]
Chr4:159601599 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623947] Chr4:158708432 [GRCh38]
Chr4:159629584 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1117-9T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623927] Chr4:158703414 [GRCh38]
Chr4:159624566 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1469-4dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003623948] Chr4:158706624..158706625 [GRCh38]
Chr4:159627776..159627777 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.951C>G (p.Pro317=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624319] Chr4:158697678 [GRCh38]
Chr4:159618830 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+19T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624384] Chr4:158690444 [GRCh38]
Chr4:159611596 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624807] Chr4:158708454 [GRCh38]
Chr4:159629606 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.973-17_973-16del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003874846] Chr4:158698970..158698971 [GRCh38]
Chr4:159620122..159620123 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625515] Chr4:158708475 [GRCh38]
Chr4:159629627 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624041] Chr4:158703576 [GRCh38]
Chr4:159624728 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.405+13G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624086] Chr4:158682437 [GRCh38]
Chr4:159603589 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.35-11T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624762] Chr4:158680456 [GRCh38]
Chr4:159601608 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+2T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624777] Chr4:158684675 [GRCh38]
Chr4:159605827 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1469-17C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624867] Chr4:158706612 [GRCh38]
Chr4:159627764 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.617A>C (p.His206Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624556] Chr4:158690358 [GRCh38]
Chr4:159611510 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.639A>G (p.Gly213=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625543] Chr4:158690380 [GRCh38]
Chr4:159611532 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003625544] Chr4:158706205..158706206 [GRCh38]
Chr4:159627357..159627358 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.685-8C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625824] Chr4:158695489 [GRCh38]
Chr4:159616641 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-4_832-3del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003624242] Chr4:158697544..158697545 [GRCh38]
Chr4:159618696..159618697 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.607-20_607-19del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003624532] Chr4:158690327..158690328 [GRCh38]
Chr4:159611479..159611480 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.973-14T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625566] Chr4:158698973 [GRCh38]
Chr4:159620125 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-7T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625835] Chr4:158708357 [GRCh38]
Chr4:159629509 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.78A>G (p.Leu26=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625840] Chr4:158680510 [GRCh38]
Chr4:159601662 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.175+20C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624923] Chr4:158680627 [GRCh38]
Chr4:159601779 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1117-20C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625013] Chr4:158703403 [GRCh38]
Chr4:159624555 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.426A>G (p.Val142=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625583] Chr4:158684612 [GRCh38]
Chr4:159605764 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+20G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624387] Chr4:158706391 [GRCh38]
Chr4:159627543 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+14G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625038] Chr4:158706385 [GRCh38]
Chr4:159627537 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-15A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625593] Chr4:158708349 [GRCh38]
Chr4:159629501 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511555] Chr4:158697643 [GRCh38]
Chr4:159618795 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.543C>T (p.Ser181=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511924] Chr4:158685156 [GRCh38]
Chr4:159606308 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405G>A (p.Gly135=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624962] Chr4:158682424 [GRCh38]
Chr4:159603576 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.978T>C (p.Gly326=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625291] Chr4:158698992 [GRCh38]
Chr4:159620144 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625686] Chr4:158708513 [GRCh38]
Chr4:159629665 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.487+2T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625703] Chr4:158684675 [GRCh38]
Chr4:159605827 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511757] Chr4:158706289 [GRCh38]
Chr4:159627441 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476369] Chr4:158708390 [GRCh38]
Chr4:159629542 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.685-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476373] Chr4:158695496 [GRCh38]
Chr4:159616648 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1691-3C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476384] Chr4:158708361 [GRCh38]
Chr4:159629513 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.175+2T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476389] Chr4:158680609 [GRCh38]
Chr4:159601761 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003476391] Chr4:158706814..158706815 [GRCh38]
Chr4:159627966..159627967 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs) indel Multiple acyl-CoA dehydrogenase deficiency [RCV003476392] Chr4:158680524 [GRCh38]
Chr4:159601676 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1690+9T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003872735] Chr4:158706859 [GRCh38]
Chr4:159628011 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476372] Chr4:158699012 [GRCh38]
Chr4:159620164 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1646del (p.Asn549fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476374] Chr4:158706804 [GRCh38]
Chr4:159627956 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003476386] Chr4:158706318..158706319 [GRCh38]
Chr4:159627470..159627471 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1461del (p.Lys487fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476390] Chr4:158706362 [GRCh38]
Chr4:159627514 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.831+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476394] Chr4:158695644 [GRCh38]
Chr4:159616796 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1166del (p.Pro389fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476367] Chr4:158703471 [GRCh38]
Chr4:159624623 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476380] Chr4:158682263 [GRCh38]
Chr4:159603415 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476385] Chr4:158684616 [GRCh38]
Chr4:159605768 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004453.4(ETFDH):c.577del (p.Glu193fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476388] Chr4:158685190 [GRCh38]
Chr4:159606342 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476398] Chr4:158695548 [GRCh38]
Chr4:159616700 [GRCh37]
Chr4:4q32.1		 pathogenic
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476366] Chr4:158703580 [GRCh38]
Chr4:159624732 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1019del (p.Phe340fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476377] Chr4:158699032 [GRCh38]
Chr4:159620184 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476379] Chr4:158708468 [GRCh38]
Chr4:159629620 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.603T>G (p.Ala201=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511487] Chr4:158685216 [GRCh38]
Chr4:159606368 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003476361] Chr4:158695590..158695594 [GRCh38]
Chr4:159616742..159616746 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476382] Chr4:158682318 [GRCh38]
Chr4:159603470 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003476387] Chr4:158706815..158706816 [GRCh38]
Chr4:159627967..159627968 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476393] Chr4:158680602 [GRCh38]
Chr4:159601754 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476363] Chr4:158706357 [GRCh38]
Chr4:159627509 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003476371] Chr4:158706359..158706360 [GRCh38]
Chr4:159627511..159627512 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs) indel Multiple acyl-CoA dehydrogenase deficiency [RCV003476375] Chr4:158695497..158695503 [GRCh38]
Chr4:159616649..159616655 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476378] Chr4:158680536 [GRCh38]
Chr4:159601688 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1213A>G (p.Lys405Glu) single nucleotide variant ETFDH-related disorder [RCV003400470] Chr4:158703519 [GRCh38]
Chr4:159624671 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg) single nucleotide variant ETFDH-related disorder [RCV003397028]|Multiple acyl-CoA dehydrogenase deficiency [RCV003388383] Chr4:158708504 [GRCh38]
Chr4:159629656 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.151del (p.Arg51fs) deletion ETFDH-related disorder [RCV003397362] Chr4:158680580 [GRCh38]
Chr4:159601732 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe) single nucleotide variant ETFDH-related disorder [RCV003420682]|Multiple acyl-CoA dehydrogenase deficiency [RCV003475572]|not specified [RCV003388535] Chr4:158682264 [GRCh38]
Chr4:159603416 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512646] Chr4:158706819 [GRCh38]
Chr4:159627971 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.607-2A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512748] Chr4:158690346 [GRCh38]
Chr4:159611498 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1468+9A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513049] Chr4:158706380 [GRCh38]
Chr4:159627532 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.268T>C (p.Leu90=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513566] Chr4:158682287 [GRCh38]
Chr4:159603439 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003513578] Chr4:158708498..158708500 [GRCh38]
Chr4:159629650..159629652 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.488-18T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513734] Chr4:158685083 [GRCh38]
Chr4:159606235 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1285+16G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003825617] Chr4:158703607 [GRCh38]
Chr4:159624759 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512252] Chr4:158685198 [GRCh38]
Chr4:159606350 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.838del (p.Val280fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003881875] Chr4:158697563 [GRCh38]
Chr4:159618715 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003878425] Chr4:158699106 [GRCh38]
Chr4:159620258 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-4_832-3insA insertion Multiple acyl-CoA dehydrogenase deficiency [RCV003511526] Chr4:158697555..158697556 [GRCh38]
Chr4:159618707..159618708 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003877945] Chr4:158708479 [GRCh38]
Chr4:159629631 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.411A>G (p.Pro137=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511857] Chr4:158684597 [GRCh38]
Chr4:159605749 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.360dup (p.Pro121fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003513595] Chr4:158682378..158682379 [GRCh38]
Chr4:159603530..159603531 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.150C>T (p.Pro50=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626003] Chr4:158680582 [GRCh38]
Chr4:159601734 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.973-9A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626093] Chr4:158698978 [GRCh38]
Chr4:159620130 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1468+14G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512865] Chr4:158706385 [GRCh38]
Chr4:159627537 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003512895] Chr4:158682368..158682369 [GRCh38]
Chr4:159603520..159603521 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.972+16A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003878050] Chr4:158697715 [GRCh38]
Chr4:159618867 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+13G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511702] Chr4:158684686 [GRCh38]
Chr4:159605838 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512269] Chr4:158703545 [GRCh38]
Chr4:159624697 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.789A>G (p.Arg263=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513794] Chr4:158695601 [GRCh38]
Chr4:159616753 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626036] Chr4:158706298 [GRCh38]
Chr4:159627450 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626056] Chr4:158706714 [GRCh38]
Chr4:159627866 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.488-17T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512507] Chr4:158685084 [GRCh38]
Chr4:159606236 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.487+15A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003880221] Chr4:158684688 [GRCh38]
Chr4:159605840 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+7C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512821] Chr4:158690432 [GRCh38]
Chr4:159611584 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1286-20T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003825281] Chr4:158706169 [GRCh38]
Chr4:159627321 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003512300] Chr4:158708521..158708525 [GRCh38]
Chr4:159629673..159629677 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.657A>G (p.Val219=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003881146] Chr4:158690398 [GRCh38]
Chr4:159611550 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511612] Chr4:158672459 [GRCh38]
Chr4:159593611 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.1691-18T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512432] Chr4:158708346 [GRCh38]
Chr4:159629498 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.684+11T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003878755] Chr4:158690436 [GRCh38]
Chr4:159611588 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.825G>A (p.Leu275=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626030] Chr4:158695637 [GRCh38]
Chr4:159616789 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.705G>A (p.Leu235=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003626081] Chr4:158695517 [GRCh38]
Chr4:159616669 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512665] Chr4:158703516 [GRCh38]
Chr4:159624668 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.176-19G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513012] Chr4:158682176 [GRCh38]
Chr4:159603328 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.607-12T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511885] Chr4:158690336 [GRCh38]
Chr4:159611488 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625963] Chr4:158706257..158706260 [GRCh38]
Chr4:159627409..159627412 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.607-3del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003875863] Chr4:158690341 [GRCh38]
Chr4:159611493 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.34+16C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003824739] Chr4:158672506 [GRCh38]
Chr4:159593658 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513596] Chr4:158697558 [GRCh38]
Chr4:159618710 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1117-19T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003839230] Chr4:158703404 [GRCh38]
Chr4:159624556 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003839481] Chr4:158699067 [GRCh38]
Chr4:159620219 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-13T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003839756] Chr4:158697546 [GRCh38]
Chr4:159618698 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.406-20T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003850881] Chr4:158684572 [GRCh38]
Chr4:159605724 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1690+14T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003838812] Chr4:158706864 [GRCh38]
Chr4:159628016 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.405+19del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003857873] Chr4:158682438 [GRCh38]
Chr4:159603590 [GRCh37]
Chr4:4q32.1		 benign
NM_004453.4(ETFDH):c.831+19G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003845655] Chr4:158695662 [GRCh38]
Chr4:159616814 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.488-6T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003823323] Chr4:158685095 [GRCh38]
Chr4:159606247 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.90T>C (p.Ala30=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003859263] Chr4:158680522 [GRCh38]
Chr4:159601674 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.534T>C (p.His178=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003842181] Chr4:158685147 [GRCh38]
Chr4:159606299 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_004453.4(ETFDH):c.684+12del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003871755] Chr4:158690433 [GRCh38]
Chr4:159611585 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1 copy number loss not specified [RCV003986505] Chr4:158835348..160065395 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.487+20C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003868768] Chr4:158684693 [GRCh38]
Chr4:159605845 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.51T>C (p.His17=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003819024] Chr4:158680483 [GRCh38]
Chr4:159601635 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
NM_004453.4(ETFDH):c.252T>C (p.Ala84=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003845437] Chr4:158682271 [GRCh38]
Chr4:159603423 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003853813] Chr4:158703476 [GRCh38]
Chr4:159624628 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1691-15A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003867810] Chr4:158708349 [GRCh38]
Chr4:159629501 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.832-16C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003847656] Chr4:158697543 [GRCh38]
Chr4:159618695 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.606+18T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003844389] Chr4:158685237 [GRCh38]
Chr4:159606389 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.972+11T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003862732] Chr4:158697710 [GRCh38]
Chr4:159618862 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1779del (p.Asp593fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003863546] Chr4:158708452 [GRCh38]
Chr4:159629604 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.607-15T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003863763] Chr4:158690333 [GRCh38]
Chr4:159611485 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.606+3T>G single nucleotide variant ETFDH-related disorder [RCV003899864] Chr4:158685222 [GRCh38]
Chr4:159606374 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.679C>T (p.Pro227Ser) single nucleotide variant ETFDH-related disorder [RCV004750476]|not specified [RCV004527226] Chr4:158690420 [GRCh38]
Chr4:159611572 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1469-6_1469-4del microsatellite ETFDH-related disorder [RCV003947416] Chr4:158706620..158706622 [GRCh38]
Chr4:159627772..159627774 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.1648C>T (p.Leu550=) single nucleotide variant ETFDH-related disorder [RCV003937015] Chr4:158706808 [GRCh38]
Chr4:159627960 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004453.4(ETFDH):c.155A>T (p.Asp52Val) single nucleotide variant not specified [RCV004527036] Chr4:158680587 [GRCh38]
Chr4:159601739 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_004453.4(ETFDH):c.-75A>G single nucleotide variant not specified [RCV004527227] Chr4:158672382 [GRCh38]
Chr4:159593534 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576406] Chr4:158708423 [GRCh38]
Chr4:159629575 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1210A>G (p.Met404Val) single nucleotide variant not specified [RCV004690960] Chr4:158703516 [GRCh38]
Chr4:159624668 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln) single nucleotide variant not specified [RCV004689547] Chr4:158706351 [GRCh38]
Chr4:159627503 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.226G>T (p.Ala76Ser) single nucleotide variant Inborn genetic diseases [RCV004622711] Chr4:158682245 [GRCh38]
Chr4:159603397 [GRCh37]
Chr4:4q32.1		 uncertain significance
NC_000004.11:g.(?_159593609)_(159611597_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004580708] Chr4:159593609..159611597 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_159605724)_(159611597_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004580709] Chr4:159605724..159611597 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_159601609)_(159606381_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004580710] Chr4:159601609..159606381 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576404] Chr4:158699097 [GRCh38]
Chr4:159620249 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576407] Chr4:158697617 [GRCh38]
Chr4:159618769 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1260dup (p.Glu421Ter) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004576408] Chr4:158703565..158703566 [GRCh38]
Chr4:159624717..159624718 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.606+4dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004576409] Chr4:158685220..158685221 [GRCh38]
Chr4:159606372..159606373 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.119del (p.Pro40fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004576410] Chr4:158680550 [GRCh38]
Chr4:159601702 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576411] Chr4:158685141 [GRCh38]
Chr4:159606293 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala) single nucleotide variant not specified [RCV004586261] Chr4:158685191 [GRCh38]
Chr4:159606343 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.949C>A (p.Pro317Thr) single nucleotide variant not specified [RCV004691020] Chr4:158697676 [GRCh38]
Chr4:159618828 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004576412] Chr4:158706269..158706272 [GRCh38]
Chr4:159627421..159627424 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.260del (p.Leu87fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004576413] Chr4:158682279 [GRCh38]
Chr4:159603431 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576414] Chr4:158706330 [GRCh38]
Chr4:159627482 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1471dup (p.Ser491fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004576415] Chr4:158706629..158706630 [GRCh38]
Chr4:159627781..159627782 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.521T>C (p.Val174Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576416] Chr4:158685134 [GRCh38]
Chr4:159606286 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.914dup (p.Gly306fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004576417] Chr4:158697639..158697640 [GRCh38]
Chr4:159618791..159618792 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004453.4(ETFDH):c.1327T>C (p.Trp443Arg) single nucleotide variant not specified [RCV004766560] Chr4:158706230 [GRCh38]
Chr4:159627382 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.680C>T (p.Pro227Leu) single nucleotide variant not specified [RCV004766542] Chr4:158690421 [GRCh38]
Chr4:159611573 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004453.4(ETFDH):c.1786G>C (p.Asp596His) single nucleotide variant not specified [RCV004701188] Chr4:158708459 [GRCh38]
Chr4:159629611 [GRCh37]
Chr4:4q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:861
Count of miRNA genes:613
Interacting mature miRNAs:668
Transcripts:ENST00000307738, ENST00000436096, ENST00000506422, ENST00000507475, ENST00000510353, ENST00000511912, ENST00000512251, ENST00000514148
Prediction methods: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
407287877GWAS936853_Hdodecanoylcarnitine measurement QTL GWAS936853 (human)9e-12dodecanoylcarnitine measurement4158708662158708663Human
407318594GWAS967570_Hacylcarnitine measurement QTL GWAS967570 (human)1e-21acylcarnitine measurement4158701758158701759Human
407287875GWAS936851_Hdecanoylcarnitine measurement QTL GWAS936851 (human)2e-21decanoylcarnitine measurement4158708662158708663Human
407061765GWAS710741_Hdecanoylcarnitine measurement QTL GWAS710741 (human)1e-16decanoylcarnitine measurement4158700033158700034Human
407220611GWAS869587_Hserum metabolite measurement QTL GWAS869587 (human)2e-17serum metabolite measurement4158700033158700034Human
407255616GWAS904592_Hdodecanoylcarnitine measurement QTL GWAS904592 (human)3e-15dodecanoylcarnitine measurement4158708662158708663Human
407220610GWAS869586_Hserum metabolite measurement QTL GWAS869586 (human)9e-16serum metabolite measurement4158700033158700034Human
406905160GWAS554136_Hdecanoylcarnitine measurement QTL GWAS554136 (human)1e-49decanoylcarnitine measurement4158701758158701759Human
406910921GWAS559897_Hdecanoylcarnitine measurement QTL GWAS559897 (human)1e-43decanoylcarnitine measurement4158700033158700034Human
407095050GWAS744026_Hdecanoylcarnitine measurement QTL GWAS744026 (human)5e-28decanoylcarnitine measurement4158708662158708663Human
407288203GWAS937179_Hoctanoylcarnitine measurement QTL GWAS937179 (human)1e-22octanoylcarnitine measurement4158708662158708663Human
406911569GWAS560545_Hhexanoylcarnitine measurement QTL GWAS560545 (human)2e-12hexanoylcarnitine measurement4158701758158701759Human
407325462GWAS974438_Hcis-4-decenoylcarnitine (C10:1) measurement QTL GWAS974438 (human)7e-18cis-4-decenoylcarnitine (C10:1) measurement4158701758158701759Human
407000598GWAS649574_Hblood protein measurement QTL GWAS649574 (human)2e-50blood protein measurementblood protein measurement (CMO:0000028)4158708662158708663Human
407024730GWAS673706_Hnonanoylcarnitine (C9) measurement QTL GWAS673706 (human)5e-30nonanoylcarnitine (C9) measurement4158708662158708663Human
407098074GWAS747050_HCis-4-decenoyl carnitine measurement QTL GWAS747050 (human)5e-24Cis-4-decenoyl carnitine measurement4158708662158708663Human
406905306GWAS554282_HCis-4-decenoyl carnitine measurement QTL GWAS554282 (human)6e-25Cis-4-decenoyl carnitine measurement4158701758158701759Human
407063320GWAS712296_Hoctanoylcarnitine measurement QTL GWAS712296 (human)8e-15octanoylcarnitine measurement4158700033158700034Human
407074972GWAS723948_Hlaurylcarnitine measurement QTL GWAS723948 (human)3e-15laurylcarnitine measurement4158701758158701759Human
407095836GWAS744812_Hdecanoylcarnitine measurement QTL GWAS744812 (human)2e-59decanoylcarnitine measurement4158708662158708663Human
407145120GWAS794096_Hoctanoylcarnitine-to-X-13435 ratio QTL GWAS794096 (human)2e-57octanoylcarnitine-to-X-13435 ratio4158707999158708000Human
406920100GWAS569076_Hlaurylcarnitine measurement QTL GWAS569076 (human)3e-16laurylcarnitine measurement4158700033158700034Human
407205666GWAS854642_Hblood protein measurement QTL GWAS854642 (human)5e-86blood protein measurementblood protein measurement (CMO:0000028)4158708662158708663Human
407063018GWAS711994_Hnonanoylcarnitine (C9) measurement QTL GWAS711994 (human)2e-14nonanoylcarnitine (C9) measurement4158700033158700034Human
407267308GWAS916284_Hbody height QTL GWAS916284 (human)2e-20body height (VT:0001253)body height (CMO:0000106)4158708662158708663Human
406895149GWAS544125_Hmetabolite measurement QTL GWAS544125 (human)8e-34metabolite measurement4158700033158700034Human
407255606GWAS904582_Hhexanoylcarnitine measurement QTL GWAS904582 (human)5e-11hexanoylcarnitine measurement4158698883158698884Human
407255607GWAS904583_Hhexanoylcarnitine measurement QTL GWAS904583 (human)2e-09hexanoylcarnitine measurement4158708662158708663Human
406895602GWAS544578_Hhexanoylcarnitine measurement QTL GWAS544578 (human)6e-16hexanoylcarnitine measurement4158701758158701759Human
407255605GWAS904581_Hhexanoylcarnitine measurement QTL GWAS904581 (human)2e-13hexanoylcarnitine measurement4158697585158697586Human
407255600GWAS904576_Hdecanoylcarnitine measurement QTL GWAS904576 (human)1e-12decanoylcarnitine measurement4158697585158697586Human
407156018GWAS804994_Hacylcarnitine measurement QTL GWAS804994 (human)5e-08acylcarnitine measurement4158700576158700577Human
407097653GWAS746629_Hoctanoylcarnitine measurement QTL GWAS746629 (human)8e-58octanoylcarnitine measurement4158708662158708663Human
407311921GWAS960897_H5-dodecenoylcarnitine (C12:1) measurement QTL GWAS960897 (human)3e-145-dodecenoylcarnitine (C12:1) measurement4158708662158708663Human
407095924GWAS744900_Hhexanoylcarnitine measurement QTL GWAS744900 (human)2e-16hexanoylcarnitine measurement4158701758158701759Human
407255615GWAS904591_Hdodecanoylcarnitine measurement QTL GWAS904591 (human)5e-13dodecanoylcarnitine measurement4158698883158698884Human
407255612GWAS904588_Hdecenoylcarnitine measurement QTL GWAS904588 (human)4e-10decenoylcarnitine measurement4158708662158708663Human
407255611GWAS904587_Hdecenoylcarnitine measurement QTL GWAS904587 (human)1e-09decenoylcarnitine measurement4158698883158698884Human
407255609GWAS904585_Hoctanoylcarnitine measurement QTL GWAS904585 (human)3e-14octanoylcarnitine measurement4158697585158697586Human
407069948GWAS718924_Hoctanoylcarnitine measurement QTL GWAS718924 (human)4e-53octanoylcarnitine measurement4158701758158701759Human

Markers in Region
D4S3142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,629,683 - 159,629,777UniSTSGRCh37
Build 364159,849,133 - 159,849,227RGDNCBI36
Celera4156,970,542 - 156,970,636RGD
Cytogenetic Map4q32-q35UniSTS
HuRef4155,379,523 - 155,379,617UniSTS
TNG Radiation Hybrid Map495444.0UniSTS
Stanford-G3 RH Map48737.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41615.6UniSTS
GeneMap99-G3 RH Map48662.0UniSTS
SHGC-59334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,629,669 - 159,629,793UniSTSGRCh37
Build 364159,849,119 - 159,849,243RGDNCBI36
Celera4156,970,528 - 156,970,652RGD
Cytogenetic Map4q32-q35UniSTS
HuRef4155,379,509 - 155,379,633UniSTS
GeneMap99-GB4 RH Map4644.78UniSTS
Whitehead-RH Map4698.2UniSTS
D12S1332  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p14UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map6p24.3UniSTS
Marshfield Genetic Map12119.55UniSTS
Genethon Genetic Map12120.5UniSTS
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


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