MLYCD (malonyl-CoA decarboxylase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: MLYCD (malonyl-CoA decarboxylase) Homo sapiens
Analyze
Symbol: MLYCD
Name: malonyl-CoA decarboxylase
RGD ID: 731588
HGNC Page HGNC:7150
Description: Enables identical protein binding activity and malonyl-CoA decarboxylase activity. Involved in several processes, including acyl-CoA metabolic process; fatty acid biosynthetic process; and positive regulation of fatty acid oxidation. Located in mitochondrion and peroxisome. Implicated in cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: malonyl coenzyme A decarboxylase; malonyl-CoA decarboxylase, mitochondrial; MCD; MGC59795
RGD Orthologs
Mouse
Rat
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
GRCh381683,899,115 - 83,927,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1683,899,115 - 83,951,445 (+)EnsemblGRCh38hg38GRCh38
GRCh371683,932,720 - 83,960,636 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,490,231 - 82,507,288 (+)NCBINCBI36Build 36hg18NCBI36
Build 341682,490,272 - 82,507,277NCBI
Celera1668,233,776 - 68,250,834 (+)NCBICelera
Cytogenetic Map16q23.3NCBI
HuRef1669,684,307 - 69,701,406 (+)NCBIHuRef
CHM1_11685,344,095 - 85,361,152 (+)NCBICHM1_1
T2T-CHM13v2.01689,964,788 - 89,992,706 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-beta-thujone  (EXP)
(R)-camphor  (EXP)
(R)-linalyl acetate  (EXP)
1,2-dimethylhydrazine  (ISO)
1,8-cineole  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
acrylamide  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
camphor  (EXP)
cannabidiol  (ISO)
carnitine  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corn oil  (ISO)
cyclosporin A  (EXP)
dioxygen  (ISO)
doxorubicin  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
fenthion  (ISO)
finasteride  (ISO)
fipronil  (EXP)
folic acid  (ISO)
fructose  (ISO)
glyphosate  (ISO)
imidacloprid  (ISO)
indometacin  (ISO)
ketoconazole  (ISO)
leflunomide  (EXP,ISO)
linalool  (EXP)
linalyl acetate  (EXP)
malonyl-CoA  (ISO)
methidathion  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nordihydroguaiaretic acid  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
sabinene  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
spathulenol  (EXP)
sunitinib  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (TAS)
mitochondrial matrix  (IBA,IEA,ISS)
mitochondrion  (HTP,IDA,IEA)
peroxisomal matrix  (IBA,IEA,ISS,TAS)
peroxisome  (IDA,IEA,ISO)

Molecular Function

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. Sacksteder KA, etal., J Biol Chem. 1999 Aug 27;274(35):24461-8.
10. Carnitine Supplementation Attenuates Sunitinib-Induced Inhibition of AMP-Activated Protein Kinase Downstream Signals in Cardiac Tissues. Sayed-Ahmed MM, etal., Cardiovasc Toxicol. 2019 Aug;19(4):344-356. doi: 10.1007/s12012-018-9500-0.
11. Effect of Creosote Bush-Derived NDGA on Expression of Genes Involved in Lipid Metabolism in Liver of High-Fructose Fed Rats: Relevance to NDGA Amelioration of Hypertriglyceridemia and Hepatic Steatosis. Zhang H, etal., PLoS One. 2015 Sep 22;10(9):e0138203. doi: 10.1371/journal.pone.0138203. eCollection 2015.
Additional References at PubMed
PMID:9869665   PMID:10417274   PMID:12477932   PMID:12955715   PMID:14702039   PMID:15003260   PMID:15206948   PMID:15489334   PMID:16386195   PMID:16434556   PMID:17081983   PMID:17186413  
PMID:18314420   PMID:18614968   PMID:18660489   PMID:20178365   PMID:20702857   PMID:20877624   PMID:21873635   PMID:22778304   PMID:23482565   PMID:23791943   PMID:26186194   PMID:26858006  
PMID:26948533   PMID:27499296   PMID:28380382   PMID:28514442   PMID:30021884   PMID:32296183   PMID:32707033   PMID:33111431   PMID:33961781   PMID:34800366   PMID:35509820   PMID:35831314  


Genomics

Comparative Map Data
MLYCD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381683,899,115 - 83,927,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1683,899,115 - 83,951,445 (+)EnsemblGRCh38hg38GRCh38
GRCh371683,932,720 - 83,960,636 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361682,490,231 - 82,507,288 (+)NCBINCBI36Build 36hg18NCBI36
Build 341682,490,272 - 82,507,277NCBI
Celera1668,233,776 - 68,250,834 (+)NCBICelera
Cytogenetic Map16q23.3NCBI
HuRef1669,684,307 - 69,701,406 (+)NCBIHuRef
CHM1_11685,344,095 - 85,361,152 (+)NCBICHM1_1
T2T-CHM13v2.01689,964,788 - 89,992,706 (+)NCBIT2T-CHM13v2.0
Mlycd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398120,121,591 - 120,148,577 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8120,121,617 - 120,137,841 (+)EnsemblGRCm39 Ensembl
GRCm388119,394,852 - 119,421,838 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8119,394,878 - 119,411,102 (+)EnsemblGRCm38mm10GRCm38
MGSCv378121,918,792 - 121,934,988 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368122,280,869 - 122,297,065 (+)NCBIMGSCv36mm8
MGSCv364123,800,115 - 123,816,910 (+)NCBIMGSCv36mm8
Celera8123,611,072 - 123,627,694 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map867.64NCBI
Mlycd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81964,356,582 - 64,372,447 (+)NCBIGRCr8
mRatBN7.21947,447,931 - 47,463,794 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1947,447,970 - 47,463,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1954,242,309 - 54,258,174 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01954,922,657 - 54,938,880 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01957,137,162 - 57,153,264 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01952,032,950 - 52,048,773 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1952,032,886 - 52,048,753 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01962,781,490 - 62,797,313 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41949,637,193 - 49,653,016 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11949,642,073 - 49,657,896 (+)NCBI
Celera1946,707,681 - 46,723,504 (+)NCBICelera
Cytogenetic Map19q12NCBI
MLYCD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21893,643,962 - 93,661,512 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11699,562,880 - 99,579,831 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01664,520,860 - 64,537,955 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11683,912,793 - 83,929,856 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1683,912,793 - 83,929,162 (+)Ensemblpanpan1.1panPan2
MLYCD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1568,385,058 - 68,399,965 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl568,384,618 - 68,399,965 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha568,398,888 - 68,413,778 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0568,683,230 - 68,698,120 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl568,683,230 - 68,698,120 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1568,631,023 - 68,645,876 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0568,467,455 - 68,482,348 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0568,883,325 - 68,898,237 (-)NCBIUU_Cfam_GSD_1.0
Mlycd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934928,082,871 - 28,110,598 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366413,836,418 - 3,846,485 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MLYCD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl64,681,664 - 4,698,661 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.164,683,386 - 4,698,698 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MLYCD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1569,312,978 - 69,329,346 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl569,313,062 - 69,329,102 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660476,492,522 - 6,508,731 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mlycd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247463,604,773 - 3,619,775 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247463,604,773 - 3,619,790 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MLYCD
592 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000545788] Chr16:83915088 [GRCh38]
Chr16:83948693 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.754G>A (p.Val252Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000526546] Chr16:83908238 [GRCh38]
Chr16:83941843 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.949-14A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000004271] Chr16:83914942 [GRCh38]
Chr16:83948547 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.640_641+2del deletion Deficiency of malonyl-CoA decarboxylase [RCV000004272] Chr16:83907095..83907098 [GRCh38]
Chr16:83940700..83940703 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1064_1065del (p.Phe355fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV000004273] Chr16:83915070..83915071 [GRCh38]
Chr16:83948675..83948676 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.92_116del (p.Gln31fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV000004276] Chr16:83899228..83899252 [GRCh38]
Chr16:83932833..83932857 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000551759]|Inborn genetic diseases [RCV002527741] Chr16:83912320 [GRCh38]
Chr16:83945925 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000004270]|not provided [RCV001008651] Chr16:83907018 [GRCh38]
Chr16:83940623 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000004274] Chr16:83899152 [GRCh38]
Chr16:83932757 [GRCh37]
Chr16:16q23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.119T>C (p.Met40Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000004275] Chr16:83899263 [GRCh38]
Chr16:83932868 [GRCh37]
Chr16:16q23.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1 copy number loss See cases [RCV000051122] Chr16:83878992..87223838 [GRCh38]
Chr16:83912597..87257444 [GRCh37]
Chr16:82470098..85814945 [NCBI36]
Chr16:16q23.3-24.2		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 copy number loss See cases [RCV000053359] Chr16:78704275..87819342 [GRCh38]
Chr16:78738172..87852948 [GRCh37]
Chr16:77295673..86410449 [NCBI36]
Chr16:16q23.1-24.2		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1 copy number loss See cases [RCV000053360] Chr16:81753762..85714791 [GRCh38]
Chr16:81787367..85748397 [GRCh37]
Chr16:80344868..84305898 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 copy number loss See cases [RCV000053361] Chr16:83016872..85087809 [GRCh38]
Chr16:83050477..85121415 [GRCh37]
Chr16:81607978..83678916 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3(chr16:83308441-83921719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053934]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053934]|See cases [RCV000053934] Chr16:83308441..83921719 [GRCh38]
Chr16:83342046..83955324 [GRCh37]
Chr16:81899547..82512825 [NCBI36]
Chr16:16q23.3		 uncertain significance
GRCh38/hg38 16q23.3(chr16:83602431-84024341)x3 copy number gain See cases [RCV000053935] Chr16:83602431..84024341 [GRCh38]
Chr16:83636036..84057946 [GRCh37]
Chr16:82193537..82615447 [NCBI36]
Chr16:16q23.3		 uncertain significance
GRCh38/hg38 16q23.3(chr16:83796168-84063463)x3 copy number gain See cases [RCV000053936] Chr16:83796168..84063463 [GRCh38]
Chr16:83829773..84097068 [GRCh37]
Chr16:82387274..82654569 [NCBI36]
Chr16:16q23.3		 uncertain significance
NM_012213.2(MLYCD):c.989C>T (p.Pro330Leu) single nucleotide variant Malignant melanoma [RCV000071251] Chr16:83914996 [GRCh38]
Chr16:83948601 [GRCh37]
Chr16:82506102 [NCBI36]
Chr16:16q23.3		 not provided
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000273732]|not specified [RCV000081527] Chr16:83899588 [GRCh38]
Chr16:83933193 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.528+19T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000609599]|not specified [RCV000081528] Chr16:83899691 [GRCh38]
Chr16:83933296 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.642-12A>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000290322]|not provided [RCV001618253]|not specified [RCV000081529] Chr16:83908114 [GRCh38]
Chr16:83941719 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.642-5C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000347623]|not specified [RCV000081530] Chr16:83908121 [GRCh38]
Chr16:83941726 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.680_685dup (p.Lys228_Arg229insLeuLys) duplication not provided [RCV000081531] Chr16:83908163..83908164 [GRCh38]
Chr16:83941768..83941769 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000297235]|not specified [RCV000126781] Chr16:83912269 [GRCh38]
Chr16:83945874 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000864712]|Inborn genetic diseases [RCV003162569]|not specified [RCV000126782] Chr16:83912344 [GRCh38]
Chr16:83945949 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000260027]|not provided [RCV001573206]|not specified [RCV000126783] Chr16:83899175 [GRCh38]
Chr16:83932780 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.732G>A (p.Ser244=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000406258]|not specified [RCV000126785] Chr16:83908216 [GRCh38]
Chr16:83941821 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs) duplication Intellectual disability [RCV001291094] Chr16:83915064..83915065 [GRCh38]
Chr16:83948669..83948670 [GRCh37]
Chr16:16q23.3		 likely pathogenic
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1 copy number loss See cases [RCV000133929] Chr16:83399060..84908120 [GRCh38]
Chr16:83432665..84941726 [GRCh37]
Chr16:81990166..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3 copy number gain See cases [RCV000135758] Chr16:83878992..84908120 [GRCh38]
Chr16:83912597..84941726 [GRCh37]
Chr16:82470098..83499227 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1 copy number loss See cases [RCV000136504] Chr16:83687650..86073240 [GRCh38]
Chr16:83721255..86106846 [GRCh37]
Chr16:82278756..84664347 [NCBI36]
Chr16:16q23.3-24.1		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.3(chr16:83478453-84036483)x3 copy number gain See cases [RCV000138549] Chr16:83478453..84036483 [GRCh38]
Chr16:83512058..84070088 [GRCh37]
Chr16:82069559..82627589 [NCBI36]
Chr16:16q23.3		 uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1 copy number loss See cases [RCV000139413] Chr16:83763804..84558035 [GRCh38]
Chr16:83797409..84591641 [GRCh37]
Chr16:82354910..83149142 [NCBI36]
Chr16:16q23.3-24.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3(chr16:83529919-83921660)x3 copy number gain See cases [RCV000141132] Chr16:83529919..83921660 [GRCh38]
Chr16:83563524..83955265 [GRCh37]
Chr16:82121025..82512766 [NCBI36]
Chr16:16q23.3		 uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3 copy number gain See cases [RCV000140831] Chr16:83763804..84276472 [GRCh38]
Chr16:83797409..84310078 [GRCh37]
Chr16:82354910..82867579 [NCBI36]
Chr16:16q23.3-24.1		 uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
NM_012213.3(MLYCD):c.475del (p.Ala159fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV000778481]|not provided [RCV000186010] Chr16:83899617 [GRCh38]
Chr16:83933222 [GRCh37]
Chr16:16q23.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1 copy number loss See cases [RCV000203439] Chr16:83553094..86098013 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000989644]|MLYCD-related disorder [RCV003920002]|not provided [RCV001705320]|not specified [RCV000239354] Chr16:83899350 [GRCh38]
Chr16:83932955 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.948+10A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001435822]|MLYCD-related disorder [RCV003900148] Chr16:83912377 [GRCh38]
Chr16:83945982 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1 copy number loss See cases [RCV000240561] Chr16:83496909..84695933 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000530525] Chr16:83915243 [GRCh38]
Chr16:83948848 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002525189]|not provided [RCV000522181] Chr16:83915167 [GRCh38]
Chr16:83948772 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000301043]|not specified [RCV000612127] Chr16:83915105 [GRCh38]
Chr16:83948710 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000269511] Chr16:83915351 [GRCh38]
Chr16:83948956 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000291860]|not specified [RCV000431509] Chr16:83915471 [GRCh38]
Chr16:83949076 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.1203G>A (p.Leu401=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000275147]|MLYCD-related disorder [RCV003922355] Chr16:83915210 [GRCh38]
Chr16:83948815 [GRCh37]
Chr16:16q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*460A>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000275540] Chr16:83915949 [GRCh38]
Chr16:83949554 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.505C>T (p.Leu169=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000295721] Chr16:83899649 [GRCh38]
Chr16:83933254 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*653A>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000262164] Chr16:83916142 [GRCh38]
Chr16:83949747 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*82C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000279324] Chr16:83915571 [GRCh38]
Chr16:83949176 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*27C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000321191] Chr16:83915516 [GRCh38]
Chr16:83949121 [GRCh37]
Chr16:16q23.3		 benign|uncertain significance
NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000367393] Chr16:83915167 [GRCh38]
Chr16:83948772 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*288G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000394290] Chr16:83915777 [GRCh38]
Chr16:83949382 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.529-8C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000324949]|not provided [RCV001712034] Chr16:83906979 [GRCh38]
Chr16:83940584 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.*412T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000370065] Chr16:83915901 [GRCh38]
Chr16:83949506 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.1336G>A (p.Gly446Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000371074] Chr16:83915343 [GRCh38]
Chr16:83948948 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000396285]|MLYCD-related disorder [RCV003922354]|not provided [RCV000859364] Chr16:83915051 [GRCh38]
Chr16:83948656 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000326877]|Inborn genetic diseases [RCV002521068]|not specified [RCV003226278] Chr16:83915431 [GRCh38]
Chr16:83949036 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000402761]|Inborn genetic diseases [RCV004021677] Chr16:83908271 [GRCh38]
Chr16:83941876 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.463G>T (p.Val155Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000331173] Chr16:83899607 [GRCh38]
Chr16:83933212 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*42C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000378217] Chr16:83915531 [GRCh38]
Chr16:83949136 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*504C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000311612] Chr16:83915993 [GRCh38]
Chr16:83949598 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000332744] Chr16:83915335 [GRCh38]
Chr16:83948940 [GRCh37]
Chr16:16q23.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*135A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000403920] Chr16:83915624 [GRCh38]
Chr16:83949229 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*220A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000404188] Chr16:83915709 [GRCh38]
Chr16:83949314 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*130G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000334346] Chr16:83915619 [GRCh38]
Chr16:83949224 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*618G>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000357018] Chr16:83916107 [GRCh38]
Chr16:83949712 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000381841]|Inborn genetic diseases [RCV002522892] Chr16:83907071 [GRCh38]
Chr16:83940676 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000383899] Chr16:83915440 [GRCh38]
Chr16:83949045 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*382G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000315334] Chr16:83915871 [GRCh38]
Chr16:83949476 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000361644]|MLYCD-related disorder [RCV003950090]|not specified [RCV000615615] Chr16:83899157 [GRCh38]
Chr16:83932762 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.*671C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000317381] Chr16:83916160 [GRCh38]
Chr16:83949765 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.*218C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000340016] Chr16:83915707 [GRCh38]
Chr16:83949312 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.135C>T (p.Arg45=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000318237]|not provided [RCV003422275]|not specified [RCV000614154] Chr16:83899279 [GRCh38]
Chr16:83932884 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*286G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000364342] Chr16:83915775 [GRCh38]
Chr16:83949380 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001322808]|not provided [RCV000597294] Chr16:83915427 [GRCh38]
Chr16:83949032 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.528+118T>G single nucleotide variant not provided [RCV001545032] Chr16:83899790 [GRCh38]
Chr16:83933395 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.-11T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000304773] Chr16:83899134 [GRCh38]
Chr16:83932739 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.734C>G (p.Thr245Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000284417] Chr16:83908218 [GRCh38]
Chr16:83941823 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*213G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000285129] Chr16:83915702 [GRCh38]
Chr16:83949307 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.468G>C (p.Gln156His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000388057] Chr16:83899612 [GRCh38]
Chr16:83933217 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*281G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000309706] Chr16:83915770 [GRCh38]
Chr16:83949375 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.998G>T (p.Gly333Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000354480] Chr16:83915005 [GRCh38]
Chr16:83948610 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.178A>G (p.Thr60Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000375181] Chr16:83899322 [GRCh38]
Chr16:83932927 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1383G>A (p.Thr461=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000940128]|not specified [RCV000600859] Chr16:83915390 [GRCh38]
Chr16:83948995 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-20A>G single nucleotide variant not specified [RCV000606352] Chr16:83906967 [GRCh38]
Chr16:83940572 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002489735]|Inborn genetic diseases [RCV002554844]|not provided [RCV001092200] Chr16:83899590 [GRCh38]
Chr16:83933195 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*437G>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120355] Chr16:83915926 [GRCh38]
Chr16:83949531 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.129G>A (p.Leu43=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002065284]|not specified [RCV000603227] Chr16:83899273 [GRCh38]
Chr16:83932878 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_012213.3(MLYCD):c.799-19C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002062622]|not specified [RCV000427465] Chr16:83912199 [GRCh38]
Chr16:83945804 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.375C>G (p.Ala125=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000876019]|MLYCD-related disorder [RCV003902571]|not specified [RCV000427548] Chr16:83899519 [GRCh38]
Chr16:83933124 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.1191G>A (p.Pro397=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609153]|not specified [RCV000437852] Chr16:83915198 [GRCh38]
Chr16:83948803 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.799-16C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000604055]|not provided [RCV000514730]|not specified [RCV000431454] Chr16:83912202 [GRCh38]
Chr16:83945807 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.894C>G (p.Leu298=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001861579]|not specified [RCV000438292] Chr16:83912313 [GRCh38]
Chr16:83945918 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.408C>G (p.Arg136=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002062694]|MLYCD-related disorder [RCV003922773]|not specified [RCV000418541] Chr16:83899552 [GRCh38]
Chr16:83933157 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.946C>T (p.Gln316Ter) single nucleotide variant not provided [RCV000421957] Chr16:83912365 [GRCh38]
Chr16:83945970 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.507G>A (p.Leu169=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000558761]|not provided [RCV001703463] Chr16:83899651 [GRCh38]
Chr16:83933256 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.-30G>C single nucleotide variant not specified [RCV000439529] Chr16:83899115 [GRCh38]
Chr16:83932720 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.12C>T (p.Phe4=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002519544]|not specified [RCV000432814] Chr16:83899156 [GRCh38]
Chr16:83932761 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.393C>T (p.Tyr131=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115280]|not specified [RCV000426138] Chr16:83899537 [GRCh38]
Chr16:83933142 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.799-15G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002059970]|not specified [RCV000436659] Chr16:83912203 [GRCh38]
Chr16:83945808 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1146C>T (p.Ser382=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001244622]|not specified [RCV000440414] Chr16:83915153 [GRCh38]
Chr16:83948758 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.2(MLYCD):c.-36G>T single nucleotide variant not specified [RCV000444317] Chr16:83899109 [GRCh38]
Chr16:83932714 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.2(MLYCD):c.-33G>C single nucleotide variant not provided [RCV001720088] Chr16:83899112 [GRCh38]
Chr16:83932717 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000876086]|not specified [RCV000437281] Chr16:83915081 [GRCh38]
Chr16:83948686 [GRCh37]
Chr16:16q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012213.3(MLYCD):c.-7G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121849]|MLYCD-related disorder [RCV003942370]|not specified [RCV000434031] Chr16:83899138 [GRCh38]
Chr16:83932743 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000764082]|not provided [RCV000482691] Chr16:83912348 [GRCh38]
Chr16:83945953 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.979A>C (p.Ser327Arg) single nucleotide variant not provided [RCV000487088] Chr16:83914986 [GRCh38]
Chr16:83948591 [GRCh37]
Chr16:16q23.3		 likely pathogenic
GRCh37/hg19 16q23.3(chr16:83903257-84174323)x1 copy number loss See cases [RCV000510687] Chr16:83903257..84174323 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1013T>C (p.Leu338Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001095687]|not provided [RCV000497571] Chr16:83915020 [GRCh38]
Chr16:83948625 [GRCh37]
Chr16:16q23.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1 copy number loss See cases [RCV000510184] Chr16:83926471..84215425 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.1295G>A (p.Arg432His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001865541]|not provided [RCV000493648] Chr16:83915302 [GRCh38]
Chr16:83948907 [GRCh37]
Chr16:16q23.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_012213.3(MLYCD):c.541G>A (p.Val181Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000547563] Chr16:83906999 [GRCh38]
Chr16:83940604 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.948+11C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502545]|not specified [RCV000602972] Chr16:83912378 [GRCh38]
Chr16:83945983 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000635380]|Inborn genetic diseases [RCV002533203] Chr16:83915380 [GRCh38]
Chr16:83948985 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1329C>T (p.Gly443=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000635381] Chr16:83915336 [GRCh38]
Chr16:83948941 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000635382]|Inborn genetic diseases [RCV003162836] Chr16:83912311 [GRCh38]
Chr16:83945916 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.890G>T (p.Gly297Val) single nucleotide variant Inborn genetic diseases [RCV003253050] Chr16:83912309 [GRCh38]
Chr16:83945914 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_012213.3(MLYCD):c.87C>T (p.Ser29=) single nucleotide variant not specified [RCV000616293] Chr16:83899231 [GRCh38]
Chr16:83932836 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1206C>T (p.Cys402=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001405485] Chr16:83915213 [GRCh38]
Chr16:83948818 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.267C>T (p.Gly89=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001521949]|MLYCD-related disorder [RCV003935419] Chr16:83899411 [GRCh38]
Chr16:83933016 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.643G>T (p.Ala215Ser) single nucleotide variant Inborn genetic diseases [RCV003278044] Chr16:83908127 [GRCh38]
Chr16:83941732 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.-23C>A single nucleotide variant not specified [RCV000611326] Chr16:83899122 [GRCh38]
Chr16:83932727 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+19T>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609163]|not specified [RCV000611357] Chr16:83899691 [GRCh38]
Chr16:83933296 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.-6G>C single nucleotide variant not specified [RCV000612097] Chr16:83899139 [GRCh38]
Chr16:83932744 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.553A>T (p.Met185Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000635383] Chr16:83907011 [GRCh38]
Chr16:83940616 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.9C>T (p.Gly3=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000635384] Chr16:83899153 [GRCh38]
Chr16:83932758 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q23.3(chr16:83253758-84134459)x1 copy number loss not provided [RCV000683850] Chr16:83253758..84134459 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_012213.3(MLYCD):c.1351A>G (p.Met451Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000706904] Chr16:83915358 [GRCh38]
Chr16:83948963 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000688135]|Inborn genetic diseases [RCV002544799] Chr16:83915182 [GRCh38]
Chr16:83948787 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000691901] Chr16:83899626 [GRCh38]
Chr16:83933231 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.641+3A>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000700736] Chr16:83907102 [GRCh38]
Chr16:83940707 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.10:g.(?_83899125)_(83915509_?)del deletion Deficiency of malonyl-CoA decarboxylase [RCV000708353] Chr16:83899125..83915509 [GRCh38]
Chr16:83932730..83949114 [GRCh37]
Chr16:16q23.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.3-24.1(chr16:83813294-84984350)x3 copy number gain not provided [RCV000739258] Chr16:83813294..84984350 [GRCh37]
Chr16:16q23.3-24.1		 likely benign
GRCh37/hg19 16q23.3(chr16:83935523-84057571)x1 copy number loss not provided [RCV000739260] Chr16:83935523..84057571 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.1089C>A (p.Ile363=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000918464] Chr16:83915096 [GRCh38]
Chr16:83948701 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001542293] Chr16:83915084 [GRCh38]
Chr16:83948689 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.641+28G>T single nucleotide variant not provided [RCV001725543] Chr16:83907127 [GRCh38]
Chr16:83940732 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.426C>T (p.His142=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502581] Chr16:83899570 [GRCh38]
Chr16:83933175 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+152C>T single nucleotide variant not provided [RCV001643402] Chr16:83907251 [GRCh38]
Chr16:83940856 [GRCh37]
Chr16:16q23.3		 benign
NC_000016.10:g.(?_83914936)_(83915509_?)del deletion Deficiency of malonyl-CoA decarboxylase [RCV001031607] Chr16:83948541..83949114 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.501C>G (p.Leu167=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001405579] Chr16:83899645 [GRCh38]
Chr16:83933250 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.432C>T (p.Ile144=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502565] Chr16:83899576 [GRCh38]
Chr16:83933181 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1 copy number loss not provided [RCV001006830] Chr16:83330709..84866927 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001052240] Chr16:83915080 [GRCh38]
Chr16:83948685 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.939G>A (p.Lys313=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002550570] Chr16:83912358 [GRCh38]
Chr16:83945963 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1007A>G (p.Lys336Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001446088]|not provided [RCV000864317] Chr16:83915014 [GRCh38]
Chr16:83948619 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.741G>T (p.Gly247=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001119961] Chr16:83908225 [GRCh38]
Chr16:83941830 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000809666] Chr16:83907095 [GRCh38]
Chr16:83940700 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000811758] Chr16:83915104 [GRCh38]
Chr16:83948709 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83838342-83941401)x1 copy number loss not provided [RCV000847711] Chr16:83838342..83941401 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001118438] Chr16:83907035 [GRCh38]
Chr16:83940640 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.686G>A (p.Arg229His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000864306]|MLYCD-related disorder [RCV003955615] Chr16:83908170 [GRCh38]
Chr16:83941775 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000805635]|Inborn genetic diseases [RCV002534812]|not provided [RCV004588269] Chr16:83915301 [GRCh38]
Chr16:83948906 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1255G>A (p.Val419Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000814504] Chr16:83915262 [GRCh38]
Chr16:83948867 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.641+11C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001118440] Chr16:83907110 [GRCh38]
Chr16:83940715 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q23.3(chr16:83904100-84058759)x1 copy number loss not provided [RCV000845885] Chr16:83904100..84058759 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*304C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120351] Chr16:83915793 [GRCh38]
Chr16:83949398 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.658C>T (p.Pro220Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001119960] Chr16:83908142 [GRCh38]
Chr16:83941747 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115377] Chr16:83915342 [GRCh38]
Chr16:83948947 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*671C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115461] Chr16:83916160 [GRCh38]
Chr16:83949765 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*430C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120354] Chr16:83915919 [GRCh38]
Chr16:83949524 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83838342-83941401)x1 copy number loss not provided [RCV000847712] Chr16:83838342..83941401 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83553442-83973918)x3 copy number gain not provided [RCV000847793] Chr16:83553442..83973918 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1 copy number loss not provided [RCV000849998] Chr16:79254648..84827672 [GRCh37]
Chr16:16q23.2-24.1		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83830451-83948495)x1 copy number loss not provided [RCV000849533] Chr16:83830451..83948495 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1 copy number loss not provided [RCV001006831] Chr16:83853228..84189313 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:83903257-84057905)x1 copy number loss not provided [RCV001006832] Chr16:83903257..84057905 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.637del (p.Ser213fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV001222824] Chr16:83907095 [GRCh38]
Chr16:83940700 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001223375] Chr16:83912294 [GRCh38]
Chr16:83945899 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001203666]|Inborn genetic diseases [RCV004033580] Chr16:83899499 [GRCh38]
Chr16:83933104 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001223307] Chr16:83899436 [GRCh38]
Chr16:83933041 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1424A>T (p.Lys475Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001222111] Chr16:83915431 [GRCh38]
Chr16:83949036 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.322G>A (p.Gly108Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115279] Chr16:83899466 [GRCh38]
Chr16:83933071 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121850] Chr16:83899176 [GRCh38]
Chr16:83932781 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121851] Chr16:83899185 [GRCh38]
Chr16:83932790 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.984G>T (p.Leu328=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121950] Chr16:83914991 [GRCh38]
Chr16:83948596 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.1153G>A (p.Val385Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121951] Chr16:83915160 [GRCh38]
Chr16:83948765 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.641+330G>C single nucleotide variant not provided [RCV001685824] Chr16:83907429 [GRCh38]
Chr16:83941034 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.641+290C>G single nucleotide variant not provided [RCV001685006] Chr16:83907389 [GRCh38]
Chr16:83940994 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.641+146A>G single nucleotide variant not provided [RCV001620502] Chr16:83907245 [GRCh38]
Chr16:83940850 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.641+218T>C single nucleotide variant not provided [RCV001678814] Chr16:83907317 [GRCh38]
Chr16:83940922 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.615G>A (p.Pro205=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002548249] Chr16:83907073 [GRCh38]
Chr16:83940678 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+8C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000873248] Chr16:83908290 [GRCh38]
Chr16:83941895 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1179G>A (p.Ala393=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001450762] Chr16:83915186 [GRCh38]
Chr16:83948791 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1194G>C (p.Leu398=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609176] Chr16:83915201 [GRCh38]
Chr16:83948806 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.453G>A (p.Val151=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502570] Chr16:83899597 [GRCh38]
Chr16:83933202 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1278C>T (p.Asn426=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002542838] Chr16:83915285 [GRCh38]
Chr16:83948890 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.141_142del (p.Val48fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV001207191] Chr16:83899285..83899286 [GRCh38]
Chr16:83932890..83932891 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001242190]|Inborn genetic diseases [RCV002564019] Chr16:83915181 [GRCh38]
Chr16:83948786 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.762C>T (p.His254=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001119963] Chr16:83908246 [GRCh38]
Chr16:83941851 [GRCh37]
Chr16:16q23.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.*254C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120049] Chr16:83915743 [GRCh38]
Chr16:83949348 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.495G>A (p.Gln165=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115281] Chr16:83899639 [GRCh38]
Chr16:83933244 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1158G>T (p.Gln386His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115376] Chr16:83915165 [GRCh38]
Chr16:83948770 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*391A>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120353] Chr16:83915880 [GRCh38]
Chr16:83949485 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*442C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120356] Chr16:83915931 [GRCh38]
Chr16:83949536 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001043718] Chr16:83915034 [GRCh38]
Chr16:83948639 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.529-290G>C single nucleotide variant not provided [RCV001665095] Chr16:83906697 [GRCh38]
Chr16:83940302 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.529-246_529-245insA insertion not provided [RCV001620148] Chr16:83906741..83906742 [GRCh38]
Chr16:83940346..83940347 [GRCh37]
Chr16:16q23.3		 benign
NC_000016.10:g.83898796C>A single nucleotide variant not provided [RCV001555015] Chr16:83898796 [GRCh38]
Chr16:83932401 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002470523] Chr16:83899319 [GRCh38]
Chr16:83932924 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.528+177C>T single nucleotide variant not provided [RCV001597454] Chr16:83899849 [GRCh38]
Chr16:83933454 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.529-112A>G single nucleotide variant not provided [RCV001696390] Chr16:83906875 [GRCh38]
Chr16:83940480 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.799-46del deletion not provided [RCV001565229] Chr16:83912172 [GRCh38]
Chr16:83945777 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+152C>T single nucleotide variant not provided [RCV001620375] Chr16:83908434 [GRCh38]
Chr16:83942039 [GRCh37]
Chr16:16q23.3		 benign
Single allele deletion Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001251455] Chr16:83931797..86285776 [GRCh37]
Chr16:16q23.3-24.1		 likely pathogenic
NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001118439] Chr16:83907050 [GRCh38]
Chr16:83940655 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1472G>T (p.Ser491Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001118522] Chr16:83915479 [GRCh38]
Chr16:83949084 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.913A>G (p.Thr305Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001121949] Chr16:83912332 [GRCh38]
Chr16:83945937 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.10:g.83898994C>G single nucleotide variant not provided [RCV001583042] Chr16:83898994 [GRCh38]
Chr16:83932599 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+173C>T single nucleotide variant not provided [RCV001714786] Chr16:83907272 [GRCh38]
Chr16:83940877 [GRCh37]
Chr16:16q23.3		 benign
NC_000016.10:g.83898913G>A single nucleotide variant not provided [RCV001643715] Chr16:83898913 [GRCh38]
Chr16:83932518 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.948+144A>G single nucleotide variant not provided [RCV001714292] Chr16:83912511 [GRCh38]
Chr16:83946116 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001050515] Chr16:83899145 [GRCh38]
Chr16:83932750 [GRCh37]
Chr16:16q23.3		 pathogenic|likely pathogenic
NM_012213.3(MLYCD):c.948+239C>T single nucleotide variant not provided [RCV001538526] Chr16:83912606 [GRCh38]
Chr16:83946211 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.529-98C>T single nucleotide variant not provided [RCV001690567] Chr16:83906889 [GRCh38]
Chr16:83940494 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.642-225G>A single nucleotide variant not provided [RCV001537389] Chr16:83907901 [GRCh38]
Chr16:83941506 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001056107]|Inborn genetic diseases [RCV002554393] Chr16:83899641 [GRCh38]
Chr16:83933246 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.748C>G (p.Leu250Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001119962] Chr16:83908232 [GRCh38]
Chr16:83941837 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*382G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001120352] Chr16:83915871 [GRCh38]
Chr16:83949476 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001036221] Chr16:83899538 [GRCh38]
Chr16:83933143 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.*591G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001115460] Chr16:83916080 [GRCh38]
Chr16:83949685 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.950_*693del (p.Arg317fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV001078200] Chr16:16q23.3 pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001247623] Chr16:83915038 [GRCh38]
Chr16:83948643 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001048965] Chr16:83915434 [GRCh38]
Chr16:83949039 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3 copy number gain not provided [RCV001258657] Chr16:83866931..85276940 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001350173] Chr16:83915185 [GRCh38]
Chr16:83948790 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001318217] Chr16:83899308 [GRCh38]
Chr16:83932913 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001337748]|Inborn genetic diseases [RCV002547370] Chr16:83908187 [GRCh38]
Chr16:83941792 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.642-2A>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001382913] Chr16:83908124 [GRCh38]
Chr16:83941729 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001363428] Chr16:83912299 [GRCh38]
Chr16:83945904 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001359677] Chr16:83899370 [GRCh38]
Chr16:83932975 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001303852] Chr16:83899152 [GRCh38]
Chr16:83932757 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001313531]|not provided [RCV003120546] Chr16:83912348 [GRCh38]
Chr16:83945953 [GRCh37]
Chr16:16q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012213.3(MLYCD):c.763G>A (p.Val255Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001361009] Chr16:83908247 [GRCh38]
Chr16:83941852 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001297568] Chr16:83899363 [GRCh38]
Chr16:83932968 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001314294] Chr16:83915244 [GRCh38]
Chr16:83948849 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001348172]|Inborn genetic diseases [RCV004036543]|MLYCD-related disorder [RCV003946008] Chr16:83899208 [GRCh38]
Chr16:83932813 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001299812] Chr16:83915283 [GRCh38]
Chr16:83948888 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.949-8C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001300503] Chr16:83914948 [GRCh38]
Chr16:83948553 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.620A>T (p.Glu207Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001367483] Chr16:83907078 [GRCh38]
Chr16:83940683 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001296497]|Inborn genetic diseases [RCV002538467] Chr16:83915248 [GRCh38]
Chr16:83948853 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.861C>A (p.Ile287=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001451502] Chr16:83912280 [GRCh38]
Chr16:83945885 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1284G>A (p.Ala428=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001400848] Chr16:83915291 [GRCh38]
Chr16:83948896 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002568939]|not provided [RCV001541105] Chr16:83915011 [GRCh38]
Chr16:83948616 [GRCh37]
Chr16:16q23.3		 benign|uncertain significance
NM_012213.3(MLYCD):c.360G>C (p.Ala120=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001442342] Chr16:83899504 [GRCh38]
Chr16:83933109 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1326A>G (p.Arg442=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001429753] Chr16:83915333 [GRCh38]
Chr16:83948938 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+326A>G single nucleotide variant not provided [RCV001535303] Chr16:83907425 [GRCh38]
Chr16:83941030 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.798+9G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001424741] Chr16:83908291 [GRCh38]
Chr16:83941896 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+8del deletion Deficiency of malonyl-CoA decarboxylase [RCV001427697] Chr16:83899677 [GRCh38]
Chr16:83933282 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+154A>T single nucleotide variant not provided [RCV001715031] Chr16:83908436 [GRCh38]
Chr16:83942041 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.879G>A (p.Leu293=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001495853] Chr16:83912298 [GRCh38]
Chr16:83945903 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.225C>T (p.Tyr75=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001454807] Chr16:83899369 [GRCh38]
Chr16:83932974 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-8C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001454905] Chr16:83908118 [GRCh38]
Chr16:83941723 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+192C>A single nucleotide variant not provided [RCV001651503] Chr16:83907291 [GRCh38]
Chr16:83940896 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.799-322T>G single nucleotide variant not provided [RCV001614085] Chr16:83911896 [GRCh38]
Chr16:83945501 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.18A>G (p.Pro6=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001429486] Chr16:83899162 [GRCh38]
Chr16:83932767 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1350G>A (p.Leu450=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001398937] Chr16:83915357 [GRCh38]
Chr16:83948962 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+107del deletion not provided [RCV001732364] Chr16:83908376 [GRCh38]
Chr16:83941981 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003147673] Chr16:83912347 [GRCh38]
Chr16:83945952 [GRCh37]
Chr16:16q23.3		 pathogenic|likely pathogenic
NM_012213.3(MLYCD):c.947A>G (p.Gln316Arg) single nucleotide variant Inborn genetic diseases [RCV003275689] Chr16:83912366 [GRCh38]
Chr16:83945971 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.376G>T (p.Glu126Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608982] Chr16:83899520 [GRCh38]
Chr16:83933125 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.368dup (p.Gln124fs) duplication Deficiency of malonyl-CoA decarboxylase [RCV001783642] Chr16:83899511..83899512 [GRCh38]
Chr16:83933116..83933117 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.758del (p.Leu253fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV001783643] Chr16:83908239 [GRCh38]
Chr16:83941844 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.224A>T (p.Tyr75Phe) single nucleotide variant not provided [RCV001764977] Chr16:83899368 [GRCh38]
Chr16:83932973 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.948+134G>T single nucleotide variant not provided [RCV001776655] Chr16:83912501 [GRCh38]
Chr16:83946106 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-149A>G single nucleotide variant not provided [RCV001779705] Chr16:83914807 [GRCh38]
Chr16:83948412 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.*7A>G single nucleotide variant not provided [RCV001760467] Chr16:83915496 [GRCh38]
Chr16:83949101 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_012213.3(MLYCD):c.22_34dup (p.Arg12fs) duplication Deficiency of malonyl-CoA decarboxylase [RCV001896582] Chr16:83899157..83899158 [GRCh38]
Chr16:83932762..83932763 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1347C>T (p.Gly449=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001928102] Chr16:83915354 [GRCh38]
Chr16:83948959 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.1109C>A (p.Pro370His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001929311]|Inborn genetic diseases [RCV004044311] Chr16:83915116 [GRCh38]
Chr16:83948721 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.372G>T (p.Gln124His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001949859]|Inborn genetic diseases [RCV003348640] Chr16:83899516 [GRCh38]
Chr16:83933121 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.213C>G (p.Phe71Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002005199] Chr16:83899357 [GRCh38]
Chr16:83932962 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.478_479insGGGCG (p.Asp160fs) insertion Deficiency of malonyl-CoA decarboxylase [RCV001890786] Chr16:83899620..83899621 [GRCh38]
Chr16:83933225..83933226 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002021753]|Inborn genetic diseases [RCV003348768] Chr16:83899659 [GRCh38]
Chr16:83933264 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001945474] Chr16:83912233 [GRCh38]
Chr16:83945838 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001969153] Chr16:83899620 [GRCh38]
Chr16:83933225 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1380G>C (p.Glu460Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001969535] Chr16:83915387 [GRCh38]
Chr16:83948992 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001946231] Chr16:83912306 [GRCh38]
Chr16:83945911 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026) copy number loss not specified [RCV002052553] Chr16:83313106..84608026 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.1058A>C (p.Glu353Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001946107] Chr16:83915065 [GRCh38]
Chr16:83948670 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001936493] Chr16:83899635 [GRCh38]
Chr16:83933240 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.445G>A (p.Gly149Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002048360] Chr16:83899589 [GRCh38]
Chr16:83933194 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.997G>A (p.Gly333Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001886892] Chr16:83915004 [GRCh38]
Chr16:83948609 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.190G>A (p.Ala64Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002037213] Chr16:83899334 [GRCh38]
Chr16:83932939 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.622G>A (p.Val208Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001921699] Chr16:83907080 [GRCh38]
Chr16:83940685 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001918216] Chr16:83899202 [GRCh38]
Chr16:83932807 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.60del (p.Arg21fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV001921529] Chr16:83899204 [GRCh38]
Chr16:83932809 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.961C>T (p.His321Tyr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002010015] Chr16:83914968 [GRCh38]
Chr16:83948573 [GRCh37]
Chr16:16q23.3		 likely benign|uncertain significance
NM_012213.3(MLYCD):c.226G>A (p.Gly76Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002050170] Chr16:83899370 [GRCh38]
Chr16:83932975 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.744G>C (p.Glu248Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002047857] Chr16:83908228 [GRCh38]
Chr16:83941833 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.404C>T (p.Pro135Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001980515] Chr16:83899548 [GRCh38]
Chr16:83933153 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1012C>G (p.Leu338Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001979468] Chr16:83915019 [GRCh38]
Chr16:83948624 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.691G>A (p.Val231Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001923930]|Inborn genetic diseases [RCV004044239] Chr16:83908175 [GRCh38]
Chr16:83941780 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1106G>T (p.Gly369Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002033794] Chr16:83915113 [GRCh38]
Chr16:83948718 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002017742]|not provided [RCV004591698] Chr16:83915307 [GRCh38]
Chr16:83948912 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1345G>A (p.Gly449Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001938558]|Inborn genetic diseases [RCV004043588] Chr16:83915352 [GRCh38]
Chr16:83948957 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001925937] Chr16:83912326 [GRCh38]
Chr16:83945931 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.416_417delinsTT (p.Gly139Val) indel Deficiency of malonyl-CoA decarboxylase [RCV001876838] Chr16:83899560..83899561 [GRCh38]
Chr16:83933165..83933166 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1243G>A (p.Ala415Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001940119]|Inborn genetic diseases [RCV004043293] Chr16:83915250 [GRCh38]
Chr16:83948855 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.630G>C (p.Gln210His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001938520] Chr16:83907088 [GRCh38]
Chr16:83940693 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.596G>A (p.Arg199Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001998180] Chr16:83907054 [GRCh38]
Chr16:83940659 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.9:g.(?_83932750)_(84056514_?)del deletion Deficiency of malonyl-CoA decarboxylase [RCV001956536] Chr16:83932750..84056514 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.208G>A (p.Asp70Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001866963] Chr16:83899352 [GRCh38]
Chr16:83932957 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002029737]|Inborn genetic diseases [RCV003264117] Chr16:83899670 [GRCh38]
Chr16:83933275 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.9:g.(?_83932750)_(83949094_?)dup duplication Deficiency of malonyl-CoA decarboxylase [RCV001922899] Chr16:83932750..83949094 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1277A>G (p.Asn426Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV001881915] Chr16:83915284 [GRCh38]
Chr16:83948889 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.641+12G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002084859] Chr16:83907111 [GRCh38]
Chr16:83940716 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1236C>A (p.Arg412=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002166833] Chr16:83915243 [GRCh38]
Chr16:83948848 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1428C>G (p.Ala476=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002145691] Chr16:83915435 [GRCh38]
Chr16:83949040 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.232C>T (p.Leu78=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002127512] Chr16:83899376 [GRCh38]
Chr16:83932981 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.459C>T (p.Phe153=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002164895] Chr16:83899603 [GRCh38]
Chr16:83933208 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1335C>A (p.Thr445=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002086451] Chr16:83915342 [GRCh38]
Chr16:83948947 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.282C>T (p.Gly94=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002130166] Chr16:83899426 [GRCh38]
Chr16:83933031 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.799-4C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002125883] Chr16:83912214 [GRCh38]
Chr16:83945819 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.462G>C (p.Leu154=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002108735] Chr16:83899606 [GRCh38]
Chr16:83933211 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1302C>T (p.Asn434=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002209869] Chr16:83915309 [GRCh38]
Chr16:83948914 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-16A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002173609] Chr16:83908110 [GRCh38]
Chr16:83941715 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.180A>T (p.Thr60=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002192735] Chr16:83899324 [GRCh38]
Chr16:83932929 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.576C>T (p.Ser192=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002074744] Chr16:83907034 [GRCh38]
Chr16:83940639 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.166C>T (p.Leu56=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002172920] Chr16:83899310 [GRCh38]
Chr16:83932915 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.334C>T (p.Leu112=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002171497] Chr16:83899478 [GRCh38]
Chr16:83933083 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+10C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002095664] Chr16:83899682 [GRCh38]
Chr16:83933287 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1005C>A (p.Thr335=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002150086] Chr16:83915012 [GRCh38]
Chr16:83948617 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.558C>G (p.Leu186=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002083264] Chr16:83907016 [GRCh38]
Chr16:83940621 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+9C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002119914] Chr16:83912376 [GRCh38]
Chr16:83945981 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.688C>T (p.Arg230Cys) single nucleotide variant not specified [RCV002247981] Chr16:83908172 [GRCh38]
Chr16:83941777 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.309G>A (p.Ala103=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002141675] Chr16:83899453 [GRCh38]
Chr16:83933058 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.933C>T (p.Val311=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002098765] Chr16:83912352 [GRCh38]
Chr16:83945957 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1137C>G (p.Leu379=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002144130] Chr16:83915144 [GRCh38]
Chr16:83948749 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+7G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002204504] Chr16:83912374 [GRCh38]
Chr16:83945979 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1170G>A (p.Leu390=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002160744] Chr16:83915177 [GRCh38]
Chr16:83948782 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_012213.3(MLYCD):c.948+8A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002176586] Chr16:83912375 [GRCh38]
Chr16:83945980 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.649G>A (p.Ala217Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003110432] Chr16:83908133 [GRCh38]
Chr16:83941738 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.477C>T (p.Ala159=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003116946] Chr16:83899621 [GRCh38]
Chr16:83933226 [GRCh37]
Chr16:16q23.3		 likely benign
NC_000016.9:g.(?_83932750)_(84211465_?)dup duplication Primary ciliary dyskinesia [RCV003113901] Chr16:83932750..84211465 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.417C>T (p.Gly139=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003118138] Chr16:83899561 [GRCh38]
Chr16:83933166 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003122082] Chr16:83912262 [GRCh38]
Chr16:83945867 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1394G>A (p.Ser465Asn) single nucleotide variant See cases [RCV002252397] Chr16:83915401 [GRCh38]
Chr16:83949006 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_012213.3(MLYCD):c.667A>T (p.Asn223Tyr) single nucleotide variant Inborn genetic diseases [RCV003260970] Chr16:83908151 [GRCh38]
Chr16:83941756 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3(chr16:82943629-84073053)x3 copy number gain not provided [RCV002474827] Chr16:82943629..84073053 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1289T>C (p.Leu430Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002301352] Chr16:83915296 [GRCh38]
Chr16:83948901 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002303436] Chr16:83912221 [GRCh38]
Chr16:83945826 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.948+12G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002613464] Chr16:83912379 [GRCh38]
Chr16:83945984 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1079G>T (p.Cys360Phe) single nucleotide variant Inborn genetic diseases [RCV002728367] Chr16:83915086 [GRCh38]
Chr16:83948691 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.793A>G (p.Ile265Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003025696]|Inborn genetic diseases [RCV003012240] Chr16:83908277 [GRCh38]
Chr16:83941882 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1254C>T (p.Pro418=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002780092] Chr16:83915261 [GRCh38]
Chr16:83948866 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.211T>C (p.Phe71Leu) single nucleotide variant Inborn genetic diseases [RCV002860677] Chr16:83899355 [GRCh38]
Chr16:83932960 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.327G>T (p.Val109=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002991632] Chr16:83899471 [GRCh38]
Chr16:83933076 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV002879775] Chr16:83912266 [GRCh38]
Chr16:83945871 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1311G>A (p.Ala437=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002995889] Chr16:83915318 [GRCh38]
Chr16:83948923 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.722C>G (p.Ser241Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003074534] Chr16:83908206 [GRCh38]
Chr16:83941811 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.529-9_529-8delinsGT indel Deficiency of malonyl-CoA decarboxylase [RCV002881186] Chr16:83906978..83906979 [GRCh38]
Chr16:83940583..83940584 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1133T>A (p.Leu378His) single nucleotide variant Inborn genetic diseases [RCV002683063] Chr16:83915140 [GRCh38]
Chr16:83948745 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.512del (p.Glu171fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV002726200] Chr16:83899656 [GRCh38]
Chr16:83933261 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.323G>T (p.Gly108Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003074606] Chr16:83899467 [GRCh38]
Chr16:83933072 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1334C>G (p.Thr445Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002947346] Chr16:83915341 [GRCh38]
Chr16:83948946 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002796098] Chr16:83912281 [GRCh38]
Chr16:83945886 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1038G>A (p.Thr346=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003039608] Chr16:83915045 [GRCh38]
Chr16:83948650 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002662966] Chr16:83912361 [GRCh38]
Chr16:83945966 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.726C>G (p.His242Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002927767] Chr16:83908210 [GRCh38]
Chr16:83941815 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1285G>A (p.Val429Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003081158] Chr16:83915292 [GRCh38]
Chr16:83948897 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002785573] Chr16:83899229 [GRCh38]
Chr16:83932834 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.744G>T (p.Glu248Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003080031] Chr16:83908228 [GRCh38]
Chr16:83941833 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003055477] Chr16:83899617 [GRCh38]
Chr16:83933222 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.519G>C (p.Pro173=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003003038] Chr16:83899663 [GRCh38]
Chr16:83933268 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1440C>T (p.Val480=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002998874] Chr16:83915447 [GRCh38]
Chr16:83949052 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1151G>T (p.Trp384Leu) single nucleotide variant Inborn genetic diseases [RCV002694468] Chr16:83915158 [GRCh38]
Chr16:83948763 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1207G>T (p.Ala403Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002760166] Chr16:83915214 [GRCh38]
Chr16:83948819 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.154C>G (p.Pro52Ala) single nucleotide variant Inborn genetic diseases [RCV002823191] Chr16:83899298 [GRCh38]
Chr16:83932903 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.253G>A (p.Ala85Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003053796] Chr16:83899397 [GRCh38]
Chr16:83933002 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.684G>C (p.Lys228Asn) single nucleotide variant Inborn genetic diseases [RCV002661872] Chr16:83908168 [GRCh38]
Chr16:83941773 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1400C>G (p.Ser467Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002976349] Chr16:83915407 [GRCh38]
Chr16:83949012 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.642-7G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002620820] Chr16:83908119 [GRCh38]
Chr16:83941724 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.805G>A (p.Val269Met) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002999118] Chr16:83912224 [GRCh38]
Chr16:83945829 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.813A>G (p.Glu271=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002949208] Chr16:83912232 [GRCh38]
Chr16:83945837 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1147G>C (p.Glu383Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003078170] Chr16:83915154 [GRCh38]
Chr16:83948759 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002825118] Chr16:83912278 [GRCh38]
Chr16:83945883 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.470T>C (p.Leu157Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002638540] Chr16:83899614 [GRCh38]
Chr16:83933219 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003002624] Chr16:83899248 [GRCh38]
Chr16:83932853 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1448T>C (p.Leu483Pro) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002820157] Chr16:83915455 [GRCh38]
Chr16:83949060 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1382C>G (p.Thr461Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002820970] Chr16:83915389 [GRCh38]
Chr16:83948994 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.528+18_528+19insC insertion Deficiency of malonyl-CoA decarboxylase [RCV002756880] Chr16:83899690..83899691 [GRCh38]
Chr16:83933295..83933296 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1083G>A (p.Lys361=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002596163] Chr16:83915090 [GRCh38]
Chr16:83948695 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1481dup (p.Ter494TrpextTer?) duplication Deficiency of malonyl-CoA decarboxylase [RCV002594669] Chr16:83915487..83915488 [GRCh38]
Chr16:83949092..83949093 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002766787] Chr16:83899267 [GRCh38]
Chr16:83932872 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.467A>G (p.Gln156Arg) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002805398] Chr16:83899611 [GRCh38]
Chr16:83933216 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002791593] Chr16:83899278 [GRCh38]
Chr16:83932883 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.731C>T (p.Ser244Leu) single nucleotide variant Inborn genetic diseases [RCV002767261] Chr16:83908215 [GRCh38]
Chr16:83941820 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003082092] Chr16:83912249 [GRCh38]
Chr16:83945854 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.414C>T (p.Arg138=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002876003] Chr16:83899558 [GRCh38]
Chr16:83933163 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1363C>T (p.Arg455Cys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002643947]|Inborn genetic diseases [RCV004636687] Chr16:83915370 [GRCh38]
Chr16:83948975 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.367C>T (p.Leu123=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002594633] Chr16:83899511 [GRCh38]
Chr16:83933116 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.802A>G (p.Ile268Val) single nucleotide variant Inborn genetic diseases [RCV002803189] Chr16:83912221 [GRCh38]
Chr16:83945826 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.638G>T (p.Ser213Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002801286] Chr16:83907096 [GRCh38]
Chr16:83940701 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.897A>G (p.Gln299=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003023045] Chr16:83912316 [GRCh38]
Chr16:83945921 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1146C>G (p.Ser382Arg) single nucleotide variant Inborn genetic diseases [RCV002893142] Chr16:83915153 [GRCh38]
Chr16:83948758 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.10:g.83914954AG[3] microsatellite Deficiency of malonyl-CoA decarboxylase [RCV003058509] Chr16:83914954..83914955 [GRCh38]
Chr16:83948559..83948560 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.531A>G (p.Glu177=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003039699] Chr16:83906989 [GRCh38]
Chr16:83940594 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1364G>T (p.Arg455Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003082886] Chr16:83915371 [GRCh38]
Chr16:83948976 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1147G>A (p.Glu383Lys) single nucleotide variant Inborn genetic diseases [RCV002652158] Chr16:83915154 [GRCh38]
Chr16:83948759 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002963102] Chr16:83915080 [GRCh38]
Chr16:83948685 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.197G>A (p.Gly66Asp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002627447] Chr16:83899341 [GRCh38]
Chr16:83932946 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002627455] Chr16:83899158 [GRCh38]
Chr16:83932763 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.258A>G (p.Glu86=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003044547] Chr16:83899402 [GRCh38]
Chr16:83933007 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003009144] Chr16:83915403 [GRCh38]
Chr16:83949008 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.259C>T (p.Leu87=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003061415] Chr16:83899403 [GRCh38]
Chr16:83933008 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.734C>T (p.Thr245Ile) single nucleotide variant Inborn genetic diseases [RCV002935585] Chr16:83908218 [GRCh38]
Chr16:83941823 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003026656] Chr16:83912323 [GRCh38]
Chr16:83945928 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002745927]|Inborn genetic diseases [RCV003167689] Chr16:83899151 [GRCh38]
Chr16:83932756 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003064360] Chr16:83912288 [GRCh38]
Chr16:83945893 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1092G>A (p.Ser364=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003009229] Chr16:83915099 [GRCh38]
Chr16:83948704 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1129CTC[2] (p.Leu379del) microsatellite Deficiency of malonyl-CoA decarboxylase [RCV002580941] Chr16:83915136..83915138 [GRCh38]
Chr16:83948741..83948743 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.583del (p.Phe194_Leu195insTer) deletion Deficiency of malonyl-CoA decarboxylase [RCV002834860] Chr16:83907040 [GRCh38]
Chr16:83940645 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.137G>A (p.Arg46His) single nucleotide variant Inborn genetic diseases [RCV002855142] Chr16:83899281 [GRCh38]
Chr16:83932886 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.499C>G (p.Leu167Val) single nucleotide variant Inborn genetic diseases [RCV002747124] Chr16:83899643 [GRCh38]
Chr16:83933248 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.393_400del (p.Leu133fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003064359] Chr16:83899537..83899544 [GRCh38]
Chr16:83933142..83933149 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.241A>G (p.Thr81Ala) single nucleotide variant Inborn genetic diseases [RCV002648390] Chr16:83899385 [GRCh38]
Chr16:83932990 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003065609]|Inborn genetic diseases [RCV004071634] Chr16:83912353 [GRCh38]
Chr16:83945958 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.193G>A (p.Glu65Lys) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002649321] Chr16:83899337 [GRCh38]
Chr16:83932942 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002632180] Chr16:83899304 [GRCh38]
Chr16:83932909 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.798+17A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003068447] Chr16:83908299 [GRCh38]
Chr16:83941904 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003051968] Chr16:83899220 [GRCh38]
Chr16:83932825 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.949-5T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002653967] Chr16:83914951 [GRCh38]
Chr16:83948556 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.76C>A (p.Arg26=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003092599] Chr16:83899220 [GRCh38]
Chr16:83932825 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1330A>C (p.Ile444Leu) single nucleotide variant Inborn genetic diseases [RCV002678548] Chr16:83915337 [GRCh38]
Chr16:83948942 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.69C>G (p.Pro23=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002654255] Chr16:83899213 [GRCh38]
Chr16:83932818 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1323C>T (p.Leu441=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002725686] Chr16:83915330 [GRCh38]
Chr16:83948935 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.674del (p.Met225fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV002584930] Chr16:83908158 [GRCh38]
Chr16:83941763 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.733A>G (p.Thr245Ala) single nucleotide variant Inborn genetic diseases [RCV002656220] Chr16:83908217 [GRCh38]
Chr16:83941822 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1449A>G (p.Leu483=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002585636] Chr16:83915456 [GRCh38]
Chr16:83949061 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+12C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002585978] Chr16:83899684 [GRCh38]
Chr16:83933289 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.675G>A (p.Met225Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002610121] Chr16:83908159 [GRCh38]
Chr16:83941764 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1039_1041del (p.Lys347del) deletion Deficiency of malonyl-CoA decarboxylase [RCV002606937] Chr16:83915045..83915047 [GRCh38]
Chr16:83948650..83948652 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.789C>T (p.Ser263=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002606942] Chr16:83908273 [GRCh38]
Chr16:83941878 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003066650] Chr16:83912245 [GRCh38]
Chr16:83945850 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.510G>A (p.Val170=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV002611548] Chr16:83899654 [GRCh38]
Chr16:83933259 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.315G>C (p.Gln105His) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003132654] Chr16:83899459 [GRCh38]
Chr16:83933064 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.161A>G (p.Tyr54Cys) single nucleotide variant Inborn genetic diseases [RCV003213624] Chr16:83899305 [GRCh38]
Chr16:83932910 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.187C>T (p.Pro63Ser) single nucleotide variant Inborn genetic diseases [RCV003369253] Chr16:83899331 [GRCh38]
Chr16:83932936 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1262A>T (p.Asn421Ile) single nucleotide variant Inborn genetic diseases [RCV003371289] Chr16:83915269 [GRCh38]
Chr16:83948874 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1131C>G (p.Leu377=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503159] Chr16:83915138 [GRCh38]
Chr16:83948743 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.225C>G (p.Tyr75Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503279] Chr16:83899369 [GRCh38]
Chr16:83932974 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.180A>C (p.Thr60=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003875279] Chr16:83899324 [GRCh38]
Chr16:83932929 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1143C>T (p.Ser381=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503318] Chr16:83915150 [GRCh38]
Chr16:83948755 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del) microsatellite Deficiency of malonyl-CoA decarboxylase [RCV003503924] Chr16:83912255..83912257 [GRCh38]
Chr16:83945860..83945862 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1242C>T (p.Tyr414=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503239] Chr16:83915249 [GRCh38]
Chr16:83948854 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1137C>T (p.Leu379=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503252] Chr16:83915144 [GRCh38]
Chr16:83948749 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.248_252del (p.Gln83fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003503265] Chr16:83899392..83899396 [GRCh38]
Chr16:83932997..83933001 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1107C>T (p.Gly369=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503420] Chr16:83915114 [GRCh38]
Chr16:83948719 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.27G>T (p.Thr9=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503439] Chr16:83899171 [GRCh38]
Chr16:83932776 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.786C>G (p.Ser262=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503469] Chr16:83908270 [GRCh38]
Chr16:83941875 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.132G>A (p.Leu44=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503693] Chr16:83899276 [GRCh38]
Chr16:83932881 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-7G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504270] Chr16:83908119 [GRCh38]
Chr16:83941724 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.2T>C (p.Met1Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503586] Chr16:83899146 [GRCh38]
Chr16:83932751 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.949-10T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503541] Chr16:83914946 [GRCh38]
Chr16:83948551 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.162C>A (p.Tyr54Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504031] Chr16:83899306 [GRCh38]
Chr16:83932911 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.798+20C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503639] Chr16:83908302 [GRCh38]
Chr16:83941907 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.130C>T (p.Leu44=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503761] Chr16:83899274 [GRCh38]
Chr16:83932879 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1362C>T (p.Tyr454=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003874954] Chr16:83915369 [GRCh38]
Chr16:83948974 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.921C>G (p.Leu307=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503741] Chr16:83912340 [GRCh38]
Chr16:83945945 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.750G>C (p.Leu250=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503742] Chr16:83908234 [GRCh38]
Chr16:83941839 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1062C>T (p.Leu354=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504203] Chr16:83915069 [GRCh38]
Chr16:83948674 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.366G>C (p.Leu122=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504156] Chr16:83899510 [GRCh38]
Chr16:83933115 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.351G>A (p.Arg117=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503785] Chr16:83899495 [GRCh38]
Chr16:83933100 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.237C>G (p.Ala79=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503891] Chr16:83899381 [GRCh38]
Chr16:83932986 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+17G>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503881] Chr16:83912384 [GRCh38]
Chr16:83945989 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+20C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504197] Chr16:83912387 [GRCh38]
Chr16:83945992 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-19T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504418] Chr16:83908107 [GRCh38]
Chr16:83941712 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.42C>T (p.Leu14=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504292] Chr16:83899186 [GRCh38]
Chr16:83932791 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.799-2A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503970] Chr16:83912216 [GRCh38]
Chr16:83945821 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.453G>T (p.Val151=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504010] Chr16:83899597 [GRCh38]
Chr16:83933202 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1185G>A (p.Gln395=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504218] Chr16:83915192 [GRCh38]
Chr16:83948797 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1209C>G (p.Ala403=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504290] Chr16:83915216 [GRCh38]
Chr16:83948821 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.870C>T (p.Ser290=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504289] Chr16:83912289 [GRCh38]
Chr16:83945894 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.585G>T (p.Leu195=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504302] Chr16:83907043 [GRCh38]
Chr16:83940648 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.27G>A (p.Thr9=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504381] Chr16:83899171 [GRCh38]
Chr16:83932776 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.381C>T (p.Asp127=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504190] Chr16:83899525 [GRCh38]
Chr16:83933130 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1194G>T (p.Leu398=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003504494] Chr16:83915201 [GRCh38]
Chr16:83948806 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.291G>A (p.Val97=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502921] Chr16:83899435 [GRCh38]
Chr16:83933040 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1431T>C (p.Ser477=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503025] Chr16:83915438 [GRCh38]
Chr16:83949043 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.66G>A (p.Pro22=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502971] Chr16:83899210 [GRCh38]
Chr16:83932815 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-17C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503134] Chr16:83914939 [GRCh38]
Chr16:83948544 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.447C>G (p.Gly149=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503298] Chr16:83899591 [GRCh38]
Chr16:83933196 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.640G>T (p.Glu214Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502830] Chr16:83907098 [GRCh38]
Chr16:83940703 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.642-9C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502965] Chr16:83908117 [GRCh38]
Chr16:83941722 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-15del deletion Deficiency of malonyl-CoA decarboxylase [RCV003502913] Chr16:83908111 [GRCh38]
Chr16:83941716 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.573C>G (p.Ser191=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503599] Chr16:83907031 [GRCh38]
Chr16:83940636 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.199C>T (p.Gln67Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503819] Chr16:83899343 [GRCh38]
Chr16:83932948 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.276G>T (p.Ala92=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003503393] Chr16:83899420 [GRCh38]
Chr16:83933025 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q23.3(chr16:83853229-84046593)x1 copy number loss not provided [RCV003483299] Chr16:83853229..84046593 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1233C>T (p.His411=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003880404] Chr16:83915240 [GRCh38]
Chr16:83948845 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.36T>G (p.Arg12=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609295]|not provided [RCV003419466] Chr16:83899180 [GRCh38]
Chr16:83932785 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1062C>G (p.Leu354=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502734]|not provided [RCV003426858] Chr16:83915069 [GRCh38]
Chr16:83948674 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1A>C (p.Met1Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003778276]|MLYCD-related disorder [RCV003400485] Chr16:83899145 [GRCh38]
Chr16:83932750 [GRCh37]
Chr16:16q23.3		 pathogenic|likely pathogenic
NM_012213.3(MLYCD):c.769C>T (p.Leu257=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610280] Chr16:83908253 [GRCh38]
Chr16:83941858 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.213C>T (p.Phe71=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610278] Chr16:83899357 [GRCh38]
Chr16:83932962 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1341C>T (p.Ser447=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609605] Chr16:83915348 [GRCh38]
Chr16:83948953 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.159C>T (p.Ala53=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609633] Chr16:83899303 [GRCh38]
Chr16:83932908 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.193G>T (p.Glu65Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003849029] Chr16:83899337 [GRCh38]
Chr16:83932942 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.30C>G (p.Ala10=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609510] Chr16:83899174 [GRCh38]
Chr16:83932779 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-11A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608677] Chr16:83914945 [GRCh38]
Chr16:83948550 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.906G>A (p.Glu302=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608682] Chr16:83912325 [GRCh38]
Chr16:83945930 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1104T>G (p.Gly368=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609012] Chr16:83915111 [GRCh38]
Chr16:83948716 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+10dup duplication Deficiency of malonyl-CoA decarboxylase [RCV003609498] Chr16:83907108..83907109 [GRCh38]
Chr16:83940713..83940714 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-12T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609489] Chr16:83906975 [GRCh38]
Chr16:83940580 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.699C>T (p.Pro233=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609574] Chr16:83908183 [GRCh38]
Chr16:83941788 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.399G>C (p.Leu133=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609902] Chr16:83899543 [GRCh38]
Chr16:83933148 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+9G>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609654] Chr16:83908291 [GRCh38]
Chr16:83941896 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.858G>A (p.Ala286=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609982] Chr16:83912277 [GRCh38]
Chr16:83945882 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.520_528+11del deletion Deficiency of malonyl-CoA decarboxylase [RCV003609985] Chr16:83899656..83899675 [GRCh38]
Chr16:83933261..83933280 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.873C>T (p.Ile291=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609019] Chr16:83912292 [GRCh38]
Chr16:83945897 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1239C>A (p.Gly413=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003881911] Chr16:83915246 [GRCh38]
Chr16:83948851 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.177G>A (p.Lys59=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610023] Chr16:83899321 [GRCh38]
Chr16:83932926 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.609T>C (p.His203=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003827419] Chr16:83907067 [GRCh38]
Chr16:83940672 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1065T>C (p.Phe355=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609434] Chr16:83915072 [GRCh38]
Chr16:83948677 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1254C>A (p.Pro418=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609446] Chr16:83915261 [GRCh38]
Chr16:83948866 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.408C>T (p.Arg136=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610032] Chr16:83899552 [GRCh38]
Chr16:83933157 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+19T>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610038] Chr16:83899691 [GRCh38]
Chr16:83933296 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.375C>T (p.Ala125=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609075] Chr16:83899519 [GRCh38]
Chr16:83933124 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1356C>G (p.Ala452=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609104] Chr16:83915363 [GRCh38]
Chr16:83948968 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.972G>A (p.Val324=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609583] Chr16:83914979 [GRCh38]
Chr16:83948584 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.930A>C (p.Arg310=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610040] Chr16:83912349 [GRCh38]
Chr16:83945954 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.528+17G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610041] Chr16:83899689 [GRCh38]
Chr16:83933294 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.108G>A (p.Leu36=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609689] Chr16:83899252 [GRCh38]
Chr16:83932857 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.498C>T (p.Ala166=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609901] Chr16:83899642 [GRCh38]
Chr16:83933247 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.798+17A>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610051] Chr16:83908299 [GRCh38]
Chr16:83941904 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.172_493del (p.Glu58fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003610313] Chr16:83899312..83899633 [GRCh38]
Chr16:83932917..83933238 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.96G>A (p.Ala32=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610322] Chr16:83899240 [GRCh38]
Chr16:83932845 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.237C>A (p.Ala79=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003827923] Chr16:83899381 [GRCh38]
Chr16:83932986 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.799-19C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609769] Chr16:83912199 [GRCh38]
Chr16:83945804 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+19G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609790] Chr16:83912386 [GRCh38]
Chr16:83945991 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+2T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608717] Chr16:83907101 [GRCh38]
Chr16:83940706 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.1005C>G (p.Thr335=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608689] Chr16:83915012 [GRCh38]
Chr16:83948617 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.300C>A (p.Gly100=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608766] Chr16:83899444 [GRCh38]
Chr16:83933049 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.42C>A (p.Leu14=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608839] Chr16:83899186 [GRCh38]
Chr16:83932791 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-4C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003879152] Chr16:83908122 [GRCh38]
Chr16:83941727 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.174G>A (p.Glu58=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003824718] Chr16:83899318 [GRCh38]
Chr16:83932923 [GRCh37]
Chr16:16q23.3		 likely benign
NC_000016.10:g.83914954AG[2] microsatellite Deficiency of malonyl-CoA decarboxylase [RCV003608857] Chr16:83914954..83914957 [GRCh38]
Chr16:83948559..83948562 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1032G>T (p.Ser344=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608930] Chr16:83915039 [GRCh38]
Chr16:83948644 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.342G>A (p.Gln114=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608939] Chr16:83899486 [GRCh38]
Chr16:83933091 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.343C>T (p.Gln115Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608866] Chr16:83899487 [GRCh38]
Chr16:83933092 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.72G>T (p.Gly24=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609002] Chr16:83899216 [GRCh38]
Chr16:83932821 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1215C>T (p.Tyr405=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003827924] Chr16:83915222 [GRCh38]
Chr16:83948827 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.921C>T (p.Leu307=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609460] Chr16:83912340 [GRCh38]
Chr16:83945945 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.876C>T (p.Ser292=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608747] Chr16:83912295 [GRCh38]
Chr16:83945900 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1329C>A (p.Gly443=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003608752] Chr16:83915336 [GRCh38]
Chr16:83948941 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.390C>T (p.Arg130=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609750] Chr16:83899534 [GRCh38]
Chr16:83933139 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.573C>T (p.Ser191=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609721] Chr16:83907031 [GRCh38]
Chr16:83940636 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+9T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003831103] Chr16:83907108 [GRCh38]
Chr16:83940713 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.21C>G (p.Gly7=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609522] Chr16:83899165 [GRCh38]
Chr16:83932770 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.390C>G (p.Arg130=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609539] Chr16:83899534 [GRCh38]
Chr16:83933139 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.480C>T (p.Asp160=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609497] Chr16:83899624 [GRCh38]
Chr16:83933229 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.708G>A (p.Arg236=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609541] Chr16:83908192 [GRCh38]
Chr16:83941797 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.537_538del (p.Asn179fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003608878] Chr16:83906995..83906996 [GRCh38]
Chr16:83940600..83940601 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.796dup (p.Gln266fs) duplication Deficiency of malonyl-CoA decarboxylase [RCV003608904] Chr16:83908278..83908279 [GRCh38]
Chr16:83941883..83941884 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.24G>A (p.Leu8=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609310] Chr16:83899168 [GRCh38]
Chr16:83932773 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.481C>T (p.Leu161=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609565] Chr16:83899625 [GRCh38]
Chr16:83933230 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.477C>G (p.Ala159=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609566] Chr16:83899621 [GRCh38]
Chr16:83933226 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.222C>T (p.Phe74=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609585] Chr16:83899366 [GRCh38]
Chr16:83932971 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-18_642-17del deletion Deficiency of malonyl-CoA decarboxylase [RCV003609367] Chr16:83908107..83908108 [GRCh38]
Chr16:83941712..83941713 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.456C>G (p.Arg152=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609049] Chr16:83899600 [GRCh38]
Chr16:83933205 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.383G>T (p.Arg128Leu) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609392] Chr16:83899527 [GRCh38]
Chr16:83933132 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.837G>A (p.Glu279=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609642] Chr16:83912256 [GRCh38]
Chr16:83945861 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.72G>A (p.Gly24=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609647] Chr16:83899216 [GRCh38]
Chr16:83932821 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1122C>T (p.Thr374=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609010] Chr16:83915129 [GRCh38]
Chr16:83948734 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.582C>T (p.Phe194=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609063] Chr16:83907040 [GRCh38]
Chr16:83940645 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.231G>A (p.Gly77=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609400] Chr16:83899375 [GRCh38]
Chr16:83932980 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.858G>C (p.Ala286=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609406] Chr16:83912277 [GRCh38]
Chr16:83945882 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-9G>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609655] Chr16:83914947 [GRCh38]
Chr16:83948552 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1428C>T (p.Ala476=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609667] Chr16:83915435 [GRCh38]
Chr16:83949040 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1065_1066insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGGAATGAACTCTTT (p.Phe355_Thr356insPhePhePhePhePhePheXaaXaaXaaXaaArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProArgAsnGluLeuPhe) insertion Deficiency of malonyl-CoA decarboxylase [RCV003608710] Chr16:83915056..83915057 [GRCh38]
Chr16:83948661..83948662 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.798+11T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609439] Chr16:83908293 [GRCh38]
Chr16:83941898 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.129G>T (p.Leu43=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003609681] Chr16:83899273 [GRCh38]
Chr16:83932878 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.9C>G (p.Gly3=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003825808] Chr16:83899153 [GRCh38]
Chr16:83932758 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.330C>G (p.Leu110=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003825935] Chr16:83899474 [GRCh38]
Chr16:83933079 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1365C>A (p.Arg455=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003879424] Chr16:83915372 [GRCh38]
Chr16:83948977 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003486152] Chr16:83899217 [GRCh38]
Chr16:83932822 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502085]|MLYCD-related disorder [RCV003946732] Chr16:83915303 [GRCh38]
Chr16:83948908 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1191G>C (p.Pro397=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003881646] Chr16:83915198 [GRCh38]
Chr16:83948803 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1032G>A (p.Ser344=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003877016] Chr16:83915039 [GRCh38]
Chr16:83948644 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+12G>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003880682] Chr16:83912379 [GRCh38]
Chr16:83945984 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.54G>A (p.Leu18=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610374] Chr16:83899198 [GRCh38]
Chr16:83932803 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.165G>A (p.Glu55=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003849372] Chr16:83899309 [GRCh38]
Chr16:83932914 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.717C>T (p.Phe239=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610355] Chr16:83908201 [GRCh38]
Chr16:83941806 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1398C>G (p.Thr466=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610382] Chr16:83915405 [GRCh38]
Chr16:83949010 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1320C>T (p.Ser440=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610421] Chr16:83915327 [GRCh38]
Chr16:83948932 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1356C>T (p.Ala452=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610422] Chr16:83915363 [GRCh38]
Chr16:83948968 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.657T>C (p.His219=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610472] Chr16:83908141 [GRCh38]
Chr16:83941746 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.321C>T (p.Ala107=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610463] Chr16:83899465 [GRCh38]
Chr16:83933070 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1209C>T (p.Ala403=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610553] Chr16:83915216 [GRCh38]
Chr16:83948821 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.192C>T (p.Ala64=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610566] Chr16:83899336 [GRCh38]
Chr16:83932941 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.102C>A (p.Gly34=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610580] Chr16:83899246 [GRCh38]
Chr16:83932851 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.875del (p.Ser292fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003610583] Chr16:83912294 [GRCh38]
Chr16:83945899 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.949-19C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610686] Chr16:83914937 [GRCh38]
Chr16:83948542 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1221T>C (p.Tyr407=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610637] Chr16:83915228 [GRCh38]
Chr16:83948833 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1047T>G (p.His349Gln) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610671] Chr16:83915054 [GRCh38]
Chr16:83948659 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1098C>A (p.Ile366=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610664] Chr16:83915105 [GRCh38]
Chr16:83948710 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-20A>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610667] Chr16:83906967 [GRCh38]
Chr16:83940572 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.519G>A (p.Pro173=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610790] Chr16:83899663 [GRCh38]
Chr16:83933268 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1260C>A (p.Ala420=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610824] Chr16:83915267 [GRCh38]
Chr16:83948872 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.22_34del (p.Leu8fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003610816] Chr16:83899158..83899170 [GRCh38]
Chr16:83932763..83932775 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1260C>T (p.Ala420=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610909] Chr16:83915267 [GRCh38]
Chr16:83948872 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.663A>G (p.Val221=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610873] Chr16:83908147 [GRCh38]
Chr16:83941752 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.460C>T (p.Leu154=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610971] Chr16:83899604 [GRCh38]
Chr16:83933209 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.744G>A (p.Glu248=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610900] Chr16:83908228 [GRCh38]
Chr16:83941833 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1216C>T (p.Leu406=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610991] Chr16:83915223 [GRCh38]
Chr16:83948828 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.346C>T (p.Gln116Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003811006] Chr16:83899490 [GRCh38]
Chr16:83933095 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.261G>C (p.Leu87=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003839188] Chr16:83899405 [GRCh38]
Chr16:83933010 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-9C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610843] Chr16:83908117 [GRCh38]
Chr16:83941722 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-11C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003810782] Chr16:83906976 [GRCh38]
Chr16:83940581 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1401C>T (p.Ser467=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610964] Chr16:83915408 [GRCh38]
Chr16:83949013 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.261G>A (p.Leu87=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610407] Chr16:83899405 [GRCh38]
Chr16:83933010 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.684G>A (p.Lys228=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610954] Chr16:83908168 [GRCh38]
Chr16:83941773 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1074G>T (p.Ser358=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610426] Chr16:83915081 [GRCh38]
Chr16:83948686 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.93G>A (p.Gln31=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003837037] Chr16:83899237 [GRCh38]
Chr16:83932842 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.558C>T (p.Leu186=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502273] Chr16:83907016 [GRCh38]
Chr16:83940621 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1024C>T (p.Leu342=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003850604] Chr16:83915031 [GRCh38]
Chr16:83948636 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.750G>A (p.Leu250=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502322] Chr16:83908234 [GRCh38]
Chr16:83941839 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.723T>G (p.Ser241=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003817392] Chr16:83908207 [GRCh38]
Chr16:83941812 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.141G>C (p.Ala47=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610609] Chr16:83899285 [GRCh38]
Chr16:83932890 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.589C>T (p.Leu197=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610627] Chr16:83907047 [GRCh38]
Chr16:83940652 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.525C>G (p.Val175=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610672] Chr16:83899669 [GRCh38]
Chr16:83933274 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-20C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610676] Chr16:83908106 [GRCh38]
Chr16:83941711 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.641+7A>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610714] Chr16:83907106 [GRCh38]
Chr16:83940711 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-10T>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610781] Chr16:83906977 [GRCh38]
Chr16:83940582 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610791] Chr16:83899268 [GRCh38]
Chr16:83932873 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.949-16C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610793] Chr16:83914940 [GRCh38]
Chr16:83948545 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.682A>T (p.Lys228Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610398] Chr16:83908166 [GRCh38]
Chr16:83941771 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.483G>C (p.Leu161=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003850611] Chr16:83899627 [GRCh38]
Chr16:83933232 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1290G>C (p.Leu430=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003855155] Chr16:83915297 [GRCh38]
Chr16:83948902 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1270C>T (p.Leu424=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610688] Chr16:83915277 [GRCh38]
Chr16:83948882 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.721del (p.Ser241fs) deletion Deficiency of malonyl-CoA decarboxylase [RCV003610699] Chr16:83908202 [GRCh38]
Chr16:83941807 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.775G>A (p.Gly259Ser) single nucleotide variant Inborn genetic diseases [RCV004509315] Chr16:83908259 [GRCh38]
Chr16:83941864 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.948+11C>G single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610654] Chr16:83912378 [GRCh38]
Chr16:83945983 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1479C>G (p.Leu493=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610872] Chr16:83915486 [GRCh38]
Chr16:83949091 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.84G>T (p.Ala28=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502337] Chr16:83899228 [GRCh38]
Chr16:83932833 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1161G>A (p.Ser387=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610975] Chr16:83915168 [GRCh38]
Chr16:83948773 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.690C>T (p.Arg230=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003854349] Chr16:83908174 [GRCh38]
Chr16:83941779 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1392C>T (p.Asn464=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003854375] Chr16:83915399 [GRCh38]
Chr16:83949004 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.21C>A (p.Gly7=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502063] Chr16:83899165 [GRCh38]
Chr16:83932770 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1125C>G (p.Leu375=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502324] Chr16:83915132 [GRCh38]
Chr16:83948737 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1245G>A (p.Ala415=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610722] Chr16:83915252 [GRCh38]
Chr16:83948857 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.615G>C (p.Pro205=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502389] Chr16:83907073 [GRCh38]
Chr16:83940678 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.384G>C (p.Arg128=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610394] Chr16:83899528 [GRCh38]
Chr16:83933133 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.336G>A (p.Leu112=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610577] Chr16:83899480 [GRCh38]
Chr16:83933085 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.861C>T (p.Ile287=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502086]|MLYCD-related disorder [RCV003901190] Chr16:83912280 [GRCh38]
Chr16:83945885 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.753C>T (p.Val251=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610770] Chr16:83908237 [GRCh38]
Chr16:83941842 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.529-1G>C single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502433] Chr16:83906986 [GRCh38]
Chr16:83940591 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.528+2T>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610340] Chr16:83899674 [GRCh38]
Chr16:83933279 [GRCh37]
Chr16:16q23.3		 likely pathogenic
NM_012213.3(MLYCD):c.910G>T (p.Gly304Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502466] Chr16:83912329 [GRCh38]
Chr16:83945934 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.849C>T (p.Ile283=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003837472] Chr16:83912268 [GRCh38]
Chr16:83945873 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1368C>T (p.Tyr456=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610576] Chr16:83915375 [GRCh38]
Chr16:83948980 [GRCh37]
Chr16:16q23.3		 benign
NM_012213.3(MLYCD):c.30C>T (p.Ala10=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610640] Chr16:83899174 [GRCh38]
Chr16:83932779 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1245G>C (p.Ala415=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502271] Chr16:83915252 [GRCh38]
Chr16:83948857 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1239C>T (p.Gly413=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003502272] Chr16:83915246 [GRCh38]
Chr16:83948851 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-17C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003610719] Chr16:83914939 [GRCh38]
Chr16:83948544 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.949-13C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003850796] Chr16:83914943 [GRCh38]
Chr16:83948548 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.246C>G (p.Ala82=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003865851] Chr16:83899390 [GRCh38]
Chr16:83932995 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.210C>T (p.Asp70=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003824186] Chr16:83899354 [GRCh38]
Chr16:83932959 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.306G>A (p.Val102=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003819330] Chr16:83899450 [GRCh38]
Chr16:83933055 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.743_753dup (p.Val252fs) duplication Deficiency of malonyl-CoA decarboxylase [RCV003843896] Chr16:83908226..83908227 [GRCh38]
Chr16:83941831..83941832 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.822A>C (p.Pro274=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003844582] Chr16:83912241 [GRCh38]
Chr16:83945846 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.414C>A (p.Arg138=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003869564] Chr16:83899558 [GRCh38]
Chr16:83933163 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.429C>T (p.His143=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003857147] Chr16:83899573 [GRCh38]
Chr16:83933178 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003871499] Chr16:83899637 [GRCh38]
Chr16:83933242 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.1254C>G (p.Pro418=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003871670] Chr16:83915261 [GRCh38]
Chr16:83948866 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.702C>T (p.Tyr234=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003848044] Chr16:83908186 [GRCh38]
Chr16:83941791 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.936C>T (p.Val312=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003869923] Chr16:83912355 [GRCh38]
Chr16:83945960 [GRCh37]
Chr16:16q23.3		 likely benign
GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3 copy number gain not specified [RCV003987204] Chr16:83307393..84530337 [GRCh37]
Chr16:16q23.3-24.1		 uncertain significance
NM_012213.3(MLYCD):c.264G>A (p.Leu88=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003870300] Chr16:83899408 [GRCh38]
Chr16:83933013 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.369G>A (p.Leu123=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003845668] Chr16:83899513 [GRCh38]
Chr16:83933118 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.507G>C (p.Leu169=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003870675] Chr16:83899651 [GRCh38]
Chr16:83933256 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-8C>T single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003818773] Chr16:83908118 [GRCh38]
Chr16:83941723 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.687C>T (p.Arg229=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003865094] Chr16:83908171 [GRCh38]
Chr16:83941776 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.312G>A (p.Glu104=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003818581] Chr16:83899456 [GRCh38]
Chr16:83933061 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.642-6C>A single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003822881] Chr16:83908120 [GRCh38]
Chr16:83941725 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.1116C>T (p.Asn372=) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003823076] Chr16:83915123 [GRCh38]
Chr16:83948728 [GRCh37]
Chr16:16q23.3		 likely benign
NM_012213.3(MLYCD):c.820C>G (p.Pro274Ala) single nucleotide variant Inborn genetic diseases [RCV004511557] Chr16:83912239 [GRCh38]
Chr16:83945844 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.412C>G (p.Arg138Gly) single nucleotide variant MLYCD-related disorder [RCV003944554] Chr16:83899556 [GRCh38]
Chr16:83933161 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1478T>C (p.Leu493Pro) single nucleotide variant Inborn genetic diseases [RCV004506144] Chr16:83915485 [GRCh38]
Chr16:83949090 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1108C>G (p.Pro370Ala) single nucleotide variant Inborn genetic diseases [RCV004503637] Chr16:83915115 [GRCh38]
Chr16:83948720 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.277C>T (p.Arg93Trp) single nucleotide variant Inborn genetic diseases [RCV004498883] Chr16:83899421 [GRCh38]
Chr16:83933026 [GRCh37]
Chr16:16q23.3		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_012213.3(MLYCD):c.202T>G (p.Cys68Gly) single nucleotide variant Inborn genetic diseases [RCV004506286] Chr16:83899346 [GRCh38]
Chr16:83932951 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1462C>G (p.Gln488Glu) single nucleotide variant Inborn genetic diseases [RCV004506111] Chr16:83915469 [GRCh38]
Chr16:83949074 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.400G>C (p.Val134Leu) single nucleotide variant Inborn genetic diseases [RCV004508854] Chr16:83899544 [GRCh38]
Chr16:83933149 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.274G>T (p.Ala92Ser) single nucleotide variant Inborn genetic diseases [RCV004498856] Chr16:83899418 [GRCh38]
Chr16:83933023 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.177G>C (p.Lys59Asn) single nucleotide variant Inborn genetic diseases [RCV004506217] Chr16:83899321 [GRCh38]
Chr16:83932926 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1070A>G (p.Asp357Gly) single nucleotide variant Inborn genetic diseases [RCV004503592] Chr16:83915077 [GRCh38]
Chr16:83948682 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1267C>G (p.His423Asp) single nucleotide variant Inborn genetic diseases [RCV004503887] Chr16:83915274 [GRCh38]
Chr16:83948879 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.614C>T (p.Pro205Leu) single nucleotide variant Inborn genetic diseases [RCV004641051] Chr16:83907072 [GRCh38]
Chr16:83940677 [GRCh37]
Chr16:16q23.3		 uncertain significance
NC_000016.9:g.(?_83948541)_(83949094_?)del deletion Deficiency of malonyl-CoA decarboxylase [RCV004581583] Chr16:83948541..83949094 [GRCh37]
Chr16:16q23.3		 pathogenic
NC_000016.9:g.(?_83932750)_(83941907_?)del deletion Deficiency of malonyl-CoA decarboxylase [RCV004581584] Chr16:83932750..83941907 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.899G>T (p.Gly300Val) single nucleotide variant not specified [RCV004690977] Chr16:83912318 [GRCh38]
Chr16:83945923 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.443A>G (p.Asp148Gly) single nucleotide variant Inborn genetic diseases [RCV004628984] Chr16:83899587 [GRCh38]
Chr16:83933192 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1207G>A (p.Ala403Thr) single nucleotide variant Inborn genetic diseases [RCV004641054] Chr16:83915214 [GRCh38]
Chr16:83948819 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.667_668delinsT (p.Asn223fs) indel Deficiency of malonyl-CoA decarboxylase [RCV004595000] Chr16:83908151..83908152 [GRCh38]
Chr16:83941756..83941757 [GRCh37]
Chr16:16q23.3		 pathogenic
NM_012213.3(MLYCD):c.312G>T (p.Glu104Asp) single nucleotide variant Inborn genetic diseases [RCV004641053] Chr16:83899456 [GRCh38]
Chr16:83933061 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.1246C>G (p.Leu416Val) single nucleotide variant Inborn genetic diseases [RCV004503833] Chr16:83915253 [GRCh38]
Chr16:83948858 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV000341581]|not specified [RCV000081532] Chr16:83908260 [GRCh38]
Chr16:83941865 [GRCh37]
Chr16:16q23.3		 benign|likely benign
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile) single nucleotide variant Deficiency of malonyl-CoA decarboxylase [RCV003132656] Chr16:83915146 [GRCh38]
Chr16:83948751 [GRCh37]
Chr16:16q23.3		 uncertain significance
NM_012213.3(MLYCD):c.136C>G (p.Arg46Gly) single nucleotide variant not provided [RCV003154320] Chr16:83899280 [GRCh38]
Chr16:83932885 [GRCh37]
Chr16:16q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:476
Count of miRNA genes:402
Interacting mature miRNAs:432
Transcripts:ENST00000262430, ENST00000569024
Prediction methods:Miranda, Rnahybrid
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
406947628GWAS596604_Hmalonyl-CoA decarboxylase, mitochondrial measurement QTL GWAS596604 (human)1e-31malonyl-CoA decarboxylase, mitochondrial measurement168390289183902892Human

Markers in Region
SHGC-60689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,949,663 - 83,949,788UniSTSGRCh37
Build 361682,507,164 - 82,507,289RGDNCBI36
Celera1668,250,710 - 68,250,835RGD
Cytogenetic Map16q24UniSTS
HuRef1669,701,282 - 69,701,407UniSTS
GeneMap99-GB4 RH Map16465.33UniSTS
Whitehead-RH Map16329.9UniSTS
MLYCD_3558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371683,949,093 - 83,949,827UniSTSGRCh37
Build 361682,506,594 - 82,507,328RGDNCBI36
Celera1668,250,140 - 68,250,874RGD
HuRef1669,700,712 - 69,701,446UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G38235  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24UniSTS


Sequence


Ensembl Acc Id: ENST00000262430   ⟹   ENSP00000262430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,899,115 - 83,927,031 (+)Ensembl
Ensembl Acc Id: ENST00000561562   ⟹   ENSP00000484042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,908,132 - 83,951,445 (+)Ensembl
Ensembl Acc Id: ENST00000563312   ⟹   ENSP00000477143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,908,175 - 83,951,152 (+)Ensembl
Ensembl Acc Id: ENST00000566309   ⟹   ENSP00000476300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,908,175 - 83,951,155 (+)Ensembl
Ensembl Acc Id: ENST00000569024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1683,911,683 - 83,916,171 (+)Ensembl
RefSeq Acc Id: NM_012213   ⟹   NP_036345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,899,115 - 83,927,031 (+)NCBI
GRCh371683,932,720 - 83,962,428 (+)NCBI
Build 361682,490,231 - 82,507,288 (+)NCBI Archive
HuRef1669,684,307 - 69,701,406 (+)ENTREZGENE
CHM1_11685,344,095 - 85,361,152 (+)NCBI
T2T-CHM13v2.01689,964,788 - 89,992,706 (+)NCBI
Sequence:
RefSeq Acc Id: NP_036345   ⟸   NM_012213
- UniProtKB: Q9UNU5 (UniProtKB/Swiss-Prot),   Q9Y3F2 (UniProtKB/Swiss-Prot),   O95822 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000484042   ⟸   ENST00000561562
Ensembl Acc Id: ENSP00000477143   ⟸   ENST00000563312
Ensembl Acc Id: ENSP00000262430   ⟸   ENST00000262430
Ensembl Acc Id: ENSP00000476300   ⟸   ENST00000566309
Protein Domains
Malonyl-CoA decarboxylase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95822-F1-model_v2 AlphaFold O95822 1-493 view protein structure

Promoters
RGD ID:6793275
Promoter ID:HG_KWN:24359
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012213
Position:
Human AssemblyChrPosition (strand)Source
Build 361682,489,881 - 82,490,381 (+)MPROMDB
RGD ID:7232989
Promoter ID:EPDNEW_H22239
Type:initiation region
Name:MLYCD_1
Description:malonyl-CoA decarboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22240  EPDNEW_H22242  EPDNEW_H22241  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,899,128 - 83,899,188EPDNEW
RGD ID:7232987
Promoter ID:EPDNEW_H22240
Type:multiple initiation site
Name:MLYCD_2
Description:malonyl-CoA decarboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22239  EPDNEW_H22242  EPDNEW_H22241  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,912,167 - 83,912,227EPDNEW
RGD ID:7232997
Promoter ID:EPDNEW_H22241
Type:multiple initiation site
Name:MLYCD_3
Description:malonyl-CoA decarboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22240  EPDNEW_H22239  EPDNEW_H22242  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,917,817 - 83,917,877EPDNEW
RGD ID:7232991
Promoter ID:EPDNEW_H22242
Type:multiple initiation site
Name:MLYCD_4
Description:malonyl-CoA decarboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22240  EPDNEW_H22239  EPDNEW_H22241  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381683,925,176 - 83,925,236EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7150 AgrOrtholog
COSMIC MLYCD COSMIC
Ensembl Genes ENSG00000103150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262430 ENTREZGENE
  ENST00000262430.6 UniProtKB/Swiss-Prot
  ENST00000561562.5 UniProtKB/TrEMBL
  ENST00000563312.5 UniProtKB/TrEMBL
  ENST00000566309.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.140.90 UniProtKB/Swiss-Prot
  3.40.630.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103150 GTEx
HGNC ID HGNC:7150 ENTREZGENE
Human Proteome Map MLYCD Human Proteome Map
InterPro Malonyl_CoA_deC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malonyl_CoA_deC_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Malonyl_CoA_deC_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCD_N UniProtKB/Swiss-Prot
  MCD_N_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23417 UniProtKB/Swiss-Prot
NCBI Gene 23417 ENTREZGENE
OMIM 606761 OMIM
PANTHER MALONYL-COA DECARBOXYLASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28641 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MCD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCD_N UniProtKB/Swiss-Prot
PharmGKB PA30861 PharmGKB
UniProt A0A087X1B8_HUMAN UniProtKB/TrEMBL
  DCMC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UNU5 ENTREZGENE
  Q9Y3F2 ENTREZGENE
  V9GY18_HUMAN UniProtKB/TrEMBL
  V9GYW3_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9UNU5 UniProtKB/Swiss-Prot
  Q9Y3F2 UniProtKB/Swiss-Prot