PC (pyruvate carboxylase) - Rat Genome Database

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Gene: PC (pyruvate carboxylase) Homo sapiens
Analyze
Symbol: PC
Name: pyruvate carboxylase
RGD ID: 733418
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in negative regulation of gene expression; positive regulation by host of viral release from host cell; and viral RNA genome packaging. Located in mitochondrion. Implicated in pyruvate carboxylase deficiency disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PCB; pyruvate carboxylase, mitochondrial; pyruvic carboxylase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,848,417 - 66,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh381166,848,420 - 66,958,418 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,615,891 - 66,725,854 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,372,573 - 66,482,423 (-)NCBINCBI36hg18NCBI36
Build 341166,372,572 - 66,431,998NCBI
Celera1163,944,403 - 64,054,124 (-)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,944,043 - 63,053,644 (-)NCBIHuRef
CHM1_11166,499,596 - 66,607,614 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-phenylbutyric acid  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (EXP)
bezafibrate  (ISO)
bisphenol A  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chromium atom  (ISO)
clofibrate  (ISO)
clomipramine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
duvoglustat  (ISO)
elemental selenium  (EXP)
entacapone  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
GW 4064  (ISO)
hydrogen peroxide  (ISO)
imipramine  (ISO)
iodide salt  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
methapyrilene  (EXP,ISO)
mifepristone  (EXP,ISO)
N-hexadecanoylsphingosine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
obeticholic acid  (EXP)
oleic acid  (ISO)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
resveratrol  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
selenic acid  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
tolcapone  (ISO)
triadimefon  (ISO)
tributylstannane  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA)
cytosol  (TAS)
mitochondrial matrix  (TAS)
mitochondrion  (IDA,ISO)

Molecular Function

References

Additional References at PubMed
PMID:3555348   PMID:6548474   PMID:7698008   PMID:7805591   PMID:7822739   PMID:7918683   PMID:8048912   PMID:8349677   PMID:9585002   PMID:9597748   PMID:10229653   PMID:12142734  
PMID:12437512   PMID:12477932   PMID:15146197   PMID:15489334   PMID:16325442   PMID:16344560   PMID:16729965   PMID:18297087   PMID:18676167   PMID:18678647   PMID:19296078   PMID:19306334  
PMID:19759019   PMID:20301764   PMID:20431927   PMID:20807508   PMID:20877624   PMID:21532586   PMID:21642987   PMID:21873635   PMID:21926972   PMID:22174851   PMID:22939629   PMID:23294723  
PMID:23383084   PMID:23798571   PMID:23861867   PMID:24163370   PMID:24797263   PMID:24981860   PMID:25071155   PMID:25147182   PMID:25243911   PMID:25315684   PMID:25607840   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26725010   PMID:26906558   PMID:27182664   PMID:27732858   PMID:27880917   PMID:27890529   PMID:28378594   PMID:28514442   PMID:28515276  
PMID:28718761   PMID:28902428   PMID:29229926   PMID:29509190   PMID:29509794   PMID:29540532   PMID:29564676   PMID:29872149   PMID:29955894   PMID:29961565   PMID:30005601   PMID:30349055  
PMID:30455355   PMID:30463901   PMID:30575818   PMID:30669930   PMID:30804502   PMID:30870574   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31091453   PMID:31152661   PMID:31452512  
PMID:31586073   PMID:31741433   PMID:31995728   PMID:32239614   PMID:32529326   PMID:32694731   PMID:32807901   PMID:32867711   PMID:33109566   PMID:33144569   PMID:33177242   PMID:33435350  
PMID:33845483   PMID:33880999  


Genomics

Comparative Map Data
PC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1166,848,417 - 66,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh381166,848,420 - 66,958,418 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371166,615,891 - 66,725,854 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,372,573 - 66,482,423 (-)NCBINCBI36hg18NCBI36
Build 341166,372,572 - 66,431,998NCBI
Celera1163,944,403 - 64,054,124 (-)NCBI
Cytogenetic Map11q13.2NCBI
HuRef1162,944,043 - 63,053,644 (-)NCBIHuRef
CHM1_11166,499,596 - 66,607,614 (-)NCBICHM1_1
Pcx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,560,500 - 4,671,780 (+)NCBIGRCm39mm39
GRCm39 Ensembl194,560,500 - 4,671,780 (+)Ensembl
GRCm38194,510,472 - 4,621,752 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,510,472 - 4,621,752 (+)EnsemblGRCm38mm10GRCm38
MGSCv37194,510,472 - 4,621,752 (+)NCBIGRCm37mm9NCBIm37
MGSCv36194,594,346 - 4,621,698 (+)NCBImm8
Celera194,381,239 - 4,492,934 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.07NCBI
Pc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21201,799,374 - 201,898,412 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1201,804,267 - 201,898,380 (+)Ensembl
Rnor_6.01219,759,157 - 219,859,854 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1219,759,183 - 219,859,848 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,626,831 - 226,726,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,112,853 - 207,212,737 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11207,266,305 - 207,366,189 (+)NCBI
Celera1199,343,224 - 199,439,273 (+)NCBICelera
RH 3.4 Map11554.4RGD
Cytogenetic Map1q43NCBI
Pc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,420,596 - 18,536,436 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,421,100 - 18,536,591 (+)NCBIChiLan1.0ChiLan1.0
PC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11165,527,285 - 65,639,533 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,527,662 - 65,551,396 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01162,205,644 - 62,317,917 (-)NCBIMhudiblu_PPA_v0panPan3
PC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,406,994 - 50,507,677 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1850,412,272 - 50,507,669 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,016,958 - 49,117,517 (+)NCBI
ROS_Cfam_1.01851,357,399 - 51,457,857 (+)NCBI
UMICH_Zoey_3.11850,541,749 - 50,642,299 (+)NCBI
UNSW_CanFamBas_1.01850,121,287 - 50,221,660 (+)NCBI
UU_Cfam_GSD_1.01850,910,958 - 51,011,409 (+)NCBI
Pc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,235,346 - 6,350,686 (+)NCBI
SpeTri2.0NW_0049365992,677,770 - 2,793,033 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,518,430 - 5,587,797 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,566,608 - 5,587,797 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.224,594,815 - 4,609,731 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2p17NCBI
PC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,310,738 - 7,418,357 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl17,357,246 - 7,417,998 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038104,598,850 - 104,705,939 (+)NCBIVero_WHO_p1.0
Pc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476719,481,158 - 19,601,036 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D1S1178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,196,136 - 36,196,533UniSTSGRCh37
GRCh37171,446,882 - 71,447,147UniSTSGRCh37
Build 36135,968,723 - 35,969,120RGDNCBI36
Celera169,736,108 - 69,736,357UniSTS
Celera134,470,596 - 34,470,993RGD
Cytogenetic Map11q13.4-q13.5UniSTS
Cytogenetic Map1p31.2UniSTS
HuRef169,557,506 - 69,557,755UniSTS
HuRef1162,983,543 - 62,984,788UniSTS
Marshfield Genetic Map1101.48UniSTS
Marshfield Genetic Map1101.48RGD
RH98812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,627,768 - 66,627,913UniSTSGRCh37
Build 361166,384,344 - 66,384,489RGDNCBI36
Celera1163,955,892 - 63,956,037RGD
Cytogenetic Map11q13.4-q13.5UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1162,955,615 - 62,955,760UniSTS
GeneMap99-GB4 RH Map11254.89UniSTS
D11S2683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,711,921 - 66,712,045UniSTSGRCh37
Build 361166,468,497 - 66,468,621RGDNCBI36
Celera1164,040,197 - 64,040,321RGD
Cytogenetic Map11q13.4-q13.5UniSTS
GDB:197884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,616,365 - 66,616,489UniSTSGRCh37
Build 361166,372,941 - 66,373,065RGDNCBI36
Celera1163,944,771 - 63,944,895RGD
Cytogenetic Map11q13.4-q13.5UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1162,944,411 - 62,944,535UniSTS
SHGC-144979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,705,594 - 66,705,719UniSTSGRCh37
Build 361166,462,170 - 66,462,295RGDNCBI36
Celera1164,033,870 - 64,033,995RGD
Cytogenetic Map11q13.4-q13.5UniSTS
HuRef1163,033,413 - 63,033,538UniSTS
TNG Radiation Hybrid Map1129665.0UniSTS
SHGC-30028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,616,007 - 66,616,134UniSTSGRCh37
Build 361166,372,583 - 66,372,710RGDNCBI36
Celera1163,944,413 - 63,944,540RGD
Cytogenetic Map11q13.4-q13.5UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1162,944,053 - 62,944,180UniSTS
TNG Radiation Hybrid Map1129624.0UniSTS
Stanford-G3 RH Map112908.0UniSTS
GeneMap99-GB4 RH Map11254.89UniSTS
Whitehead-RH Map11342.5UniSTS
NCBI RH Map11584.4UniSTS
GeneMap99-G3 RH Map112908.0UniSTS
PC  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,616,354 - 66,616,737UniSTSGRCh37
Build 361166,372,930 - 66,373,313RGDNCBI36
Celera1163,944,760 - 63,945,143RGD
Cytogenetic Map11q13.4-q13.5UniSTS
Cytogenetic Map11q13.2UniSTS
HuRef1162,944,400 - 62,944,783UniSTS
GeneMap99-GB4 RH Map11251.61UniSTS
NCBI RH Map11578.5UniSTS
STS-U30889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,721,719 - 66,721,865UniSTSGRCh37
Build 361166,478,295 - 66,478,441RGDNCBI36
Celera1164,049,996 - 64,050,142RGD
Cytogenetic Map11q13.4-q13.5UniSTS
HuRef1163,049,516 - 63,049,662UniSTS
GeneMap99-GB4 RH Map11251.39UniSTS
NCBI RH Map11578.5UniSTS
PC__5832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371166,615,803 - 66,616,552UniSTSGRCh37
Build 361166,372,379 - 66,373,128RGDNCBI36
Celera1163,944,209 - 63,944,958RGD
HuRef1162,943,849 - 62,944,598UniSTS
G07232  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4-q13.5UniSTS
RH92701  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q13.4-q13.5UniSTS
HuRef1162,944,076 - 62,944,198UniSTS
GeneMap99-GB4 RH Map11255.32UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4757
Count of miRNA genes:1005
Interacting mature miRNAs:1272
Transcripts:ENST00000355677, ENST00000393955, ENST00000393958, ENST00000393960, ENST00000524491, ENST00000525476, ENST00000528224, ENST00000528403, ENST00000529047, ENST00000529352, ENST00000530187, ENST00000530259, ENST00000531614, ENST00000534194
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 416 434 1320 569 125 449 2004 264 3583 216 899 586 129 1102 1033 3 2
Low 2022 2428 406 55 1569 16 2352 1894 151 201 561 1027 46 1 102 1755 3
Below cutoff 1 129 247 39 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK297705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN267865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA542083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB872407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB873667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB875538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB880048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB888783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB921592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC929816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC931076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC932947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC937457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC946192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC979001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U04641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U30891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000393955   ⟹   ENSP00000377527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,513 - 66,907,901 (-)Ensembl
RefSeq Acc Id: ENST00000393958   ⟹   ENSP00000377530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,520 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000393960   ⟹   ENSP00000377532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,420 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000524491   ⟹   ENSP00000434192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,860,430 - 66,958,376 (-)Ensembl
RefSeq Acc Id: ENST00000525476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,849,767 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000528224   ⟹   ENSP00000498317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,565 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000528403   ⟹   ENSP00000498816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,853,303 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000529047   ⟹   ENSP00000435905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,417 - 66,958,383 (-)Ensembl
RefSeq Acc Id: ENST00000530187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,857,883 - 66,860,475 (-)Ensembl
RefSeq Acc Id: ENST00000530259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,850,854 - 66,852,962 (-)Ensembl
RefSeq Acc Id: ENST00000531614   ⟹   ENSP00000498218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,871,802 - 66,958,373 (-)Ensembl
RefSeq Acc Id: ENST00000534194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,952,296 - 66,958,344 (-)Ensembl
RefSeq Acc Id: ENST00000628663   ⟹   ENSP00000486373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,860,448 - 66,872,039 (-)Ensembl
RefSeq Acc Id: ENST00000651036   ⟹   ENSP00000498406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,539 - 66,958,372 (-)Ensembl
RefSeq Acc Id: ENST00000651469   ⟹   ENSP00000498712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,545 - 66,958,373 (-)Ensembl
RefSeq Acc Id: ENST00000651831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,852,604 - 66,856,270 (-)Ensembl
RefSeq Acc Id: ENST00000651854   ⟹   ENSP00000498994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,550 - 66,958,386 (-)Ensembl
RefSeq Acc Id: ENST00000652125   ⟹   ENSP00000498302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,848,549 - 66,958,373 (-)Ensembl
RefSeq Acc Id: ENST00000652387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1166,852,778 - 66,856,269 (-)Ensembl
RefSeq Acc Id: NM_000920   ⟹   NP_000911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,420 - 66,958,383 (-)NCBI
GRCh371166,615,993 - 66,725,847 (-)NCBI
Build 361166,372,573 - 66,482,423 (-)NCBI Archive
HuRef1162,944,043 - 63,053,644 (-)ENTREZGENE
CHM1_11166,499,596 - 66,607,614 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001040716   ⟹   NP_001035806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,420 - 66,958,383 (-)NCBI
GRCh371166,615,993 - 66,725,847 (-)NCBI
Build 361166,372,573 - 66,482,423 (-)NCBI Archive
HuRef1162,944,043 - 63,053,644 (-)ENTREZGENE
CHM1_11166,499,596 - 66,607,614 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022172   ⟹   NP_071504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,420 - 66,907,953 (-)NCBI
GRCh371166,615,993 - 66,725,847 (-)NCBI
Build 361166,372,573 - 66,431,916 (-)NCBI Archive
HuRef1162,944,043 - 63,053,644 (-)ENTREZGENE
CHM1_11166,499,596 - 66,558,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274031   ⟹   XP_005274088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,879,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274032   ⟹   XP_005274089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,878,332 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718578   ⟹   XP_006718641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,958,415 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718579   ⟹   XP_006718642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,856,289 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545086   ⟹   XP_011543388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,906,297 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545087   ⟹   XP_011543389
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,856,120 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017868   ⟹   XP_016873357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,958,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017869   ⟹   XP_016873358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,958,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017870   ⟹   XP_016873359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,958,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017871   ⟹   XP_016873360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,958,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017872   ⟹   XP_016873361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,848,522 - 66,908,335 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000911 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035806 (Get FASTA)   NCBI Sequence Viewer  
  NP_071504 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274088 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274089 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718641 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718642 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543388 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543389 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873357 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873358 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873359 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873360 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873361 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36423 (Get FASTA)   NCBI Sequence Viewer  
  AAA60033 (Get FASTA)   NCBI Sequence Viewer  
  AAA82937 (Get FASTA)   NCBI Sequence Viewer  
  AAA99537 (Get FASTA)   NCBI Sequence Viewer  
  AAB31500 (Get FASTA)   NCBI Sequence Viewer  
  AAH11617 (Get FASTA)   NCBI Sequence Viewer  
  BAG60062 (Get FASTA)   NCBI Sequence Viewer  
  CBF60260 (Get FASTA)   NCBI Sequence Viewer  
  CBF61085 (Get FASTA)   NCBI Sequence Viewer  
  CBF62141 (Get FASTA)   NCBI Sequence Viewer  
  CBF64322 (Get FASTA)   NCBI Sequence Viewer  
  CBF68536 (Get FASTA)   NCBI Sequence Viewer  
  CBF95786 (Get FASTA)   NCBI Sequence Viewer  
  CBU85504 (Get FASTA)   NCBI Sequence Viewer  
  CBU86113 (Get FASTA)   NCBI Sequence Viewer  
  CBU87017 (Get FASTA)   NCBI Sequence Viewer  
  CBU89198 (Get FASTA)   NCBI Sequence Viewer  
  CBU93410 (Get FASTA)   NCBI Sequence Viewer  
  CBV09306 (Get FASTA)   NCBI Sequence Viewer  
  EAW74568 (Get FASTA)   NCBI Sequence Viewer  
  EAW74569 (Get FASTA)   NCBI Sequence Viewer  
  EAW74570 (Get FASTA)   NCBI Sequence Viewer  
  EAW74571 (Get FASTA)   NCBI Sequence Viewer  
  EAW74572 (Get FASTA)   NCBI Sequence Viewer  
  P11498 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000911   ⟸   NM_000920
- Peptide Label: precursor
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035806   ⟸   NM_001040716
- Peptide Label: precursor
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_071504   ⟸   NM_022172
- Peptide Label: precursor
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274088   ⟸   XM_005274031
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274089   ⟸   XM_005274032
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718641   ⟸   XM_006718578
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718642   ⟸   XM_006718579
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543388   ⟸   XM_011545086
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543389   ⟸   XM_011545087
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873360   ⟸   XM_017017871
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873358   ⟸   XM_017017869
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873359   ⟸   XM_017017870
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873357   ⟸   XM_017017868
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873361   ⟸   XM_017017872
- Peptide Label: isoform X1
- UniProtKB: P11498 (UniProtKB/Swiss-Prot),   A0A024R5C5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498218   ⟸   ENST00000531614
RefSeq Acc Id: ENSP00000498994   ⟸   ENST00000651854
RefSeq Acc Id: ENSP00000498712   ⟸   ENST00000651469
RefSeq Acc Id: ENSP00000498406   ⟸   ENST00000651036
RefSeq Acc Id: ENSP00000498302   ⟸   ENST00000652125
RefSeq Acc Id: ENSP00000486373   ⟸   ENST00000628663
RefSeq Acc Id: ENSP00000434192   ⟸   ENST00000524491
RefSeq Acc Id: ENSP00000377530   ⟸   ENST00000393958
RefSeq Acc Id: ENSP00000377527   ⟸   ENST00000393955
RefSeq Acc Id: ENSP00000377532   ⟸   ENST00000393960
RefSeq Acc Id: ENSP00000498816   ⟸   ENST00000528403
RefSeq Acc Id: ENSP00000498317   ⟸   ENST00000528224
RefSeq Acc Id: ENSP00000435905   ⟸   ENST00000529047
Promoters
RGD ID:6789212
Promoter ID:HG_KWN:13436
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC001OJM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361166,373,616 - 66,374,252 (-)MPROMDB
RGD ID:6789208
Promoter ID:HG_KWN:13439
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_022172
Position:
Human AssemblyChrPosition (strand)Source
Build 361166,431,556 - 66,432,056 (-)MPROMDB
RGD ID:6789207
Promoter ID:HG_KWN:13440
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000920,   NM_001040716
Position:
Human AssemblyChrPosition (strand)Source
Build 361166,482,301 - 66,482,912 (-)MPROMDB
RGD ID:7221193
Promoter ID:EPDNEW_H16342
Type:initiation region
Name:PC_3
Description:pyruvate carboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16343  EPDNEW_H16344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,907,953 - 66,908,013EPDNEW
RGD ID:7221195
Promoter ID:EPDNEW_H16343
Type:multiple initiation site
Name:PC_2
Description:pyruvate carboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16342  EPDNEW_H16344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,954,491 - 66,954,551EPDNEW
RGD ID:7221197
Promoter ID:EPDNEW_H16344
Type:initiation region
Name:PC_1
Description:pyruvate carboxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16342  EPDNEW_H16343  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381166,958,383 - 66,958,443EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001040716.2(PC):c.1054G>T (p.Ala352Ser) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020381] Chr11:66866318 [GRCh38]
Chr11:66633789 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.1705A>G (p.Thr569Ala) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020382] Chr11:66852559 [GRCh38]
Chr11:66620030 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.184C>T (p.Arg62Cys) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020383] Chr11:66871824 [GRCh38]
Chr11:66639295 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020384]|not provided [RCV000484861] Chr11:66851880 [GRCh38]
Chr11:66619351 [GRCh37]
Chr11:11q13.2
pathogenic|likely pathogenic
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020385] Chr11:66851149 [GRCh38]
Chr11:66618620 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.227A>T (p.His76Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020386] Chr11:66871781 [GRCh38]
Chr11:66639252 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2286C>G (p.Arg762=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020387] Chr11:66850861 [GRCh38]
Chr11:66618332 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2540C>T (p.Ala847Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020388] Chr11:66850398 [GRCh38]
Chr11:66617869 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2619C>T (p.Asn873=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020389]|not provided [RCV000676958] Chr11:66850319 [GRCh38]
Chr11:66617790 [GRCh37]
Chr11:11q13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2874G>T (p.Gly958=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020390] Chr11:66849961 [GRCh38]
Chr11:66617432 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) deletion Pyruvate carboxylase deficiency [RCV000020391] Chr11:66849026..66849027 [GRCh38]
Chr11:66616497..66616498 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.796T>A (p.Ser266Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV000020392] Chr11:66870409 [GRCh38]
Chr11:66637880 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.87C>A (p.Val29=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001412314] Chr11:66872073 [GRCh38]
Chr11:66639544 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.434T>C (p.Val145Ala) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002177] Chr11:66871368 [GRCh38]
Chr11:66638839 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002178] Chr11:66863791 [GRCh38]
Chr11:66631262 [GRCh37]
Chr11:11q13.2
pathogenic
PC, IVS15, 4-BP DEL, TAGG, +2-5 deletion Pyruvate carboxylase deficiency [RCV000002179] Chr11:11q13.4-q13.5 pathogenic
PC, 2-BP DEL, 2491GT deletion Pyruvate carboxylase deficiency [RCV000002180] Chr11:11q13.4-q13.5 pathogenic
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002181] Chr11:66871335 [GRCh38]
Chr11:66638806 [GRCh37]
Chr11:11q13.2
pathogenic|uncertain significance
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002182] Chr11:66852516 [GRCh38]
Chr11:66619987 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2876dup (p.Glu961fs) duplication Pyruvate carboxylase deficiency [RCV000002183] Chr11:66849958..66849959 [GRCh38]
Chr11:66617429..66617430 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002175] Chr11:66851944 [GRCh38]
Chr11:66619415 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2229G>T (p.Met743Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV000002176] Chr11:66850918 [GRCh38]
Chr11:66618389 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1517A>C (p.His506Pro) single nucleotide variant not provided [RCV000722789] Chr11:66852833 [GRCh38]
Chr11:66620304 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2949_2952dup (p.Leu985fs) microsatellite not provided [RCV000722835] Chr11:66849805..66849806 [GRCh38]
Chr11:66617276..66617277 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.98A>T (p.Glu33Val) single nucleotide variant not provided [RCV000520690] Chr11:66872062 [GRCh38]
Chr11:66639533 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 copy number loss See cases [RCV000052682] Chr11:66885910..67698250 [GRCh38]
Chr11:66653381..67465721 [GRCh37]
Chr11:66409957..67222297 [NCBI36]
Chr11:11q13.2
pathogenic
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2
pathogenic
NM_001040716.1(PC):c.1-28940G>A single nucleotide variant Lung cancer [RCV000110229] Chr11:66901099 [GRCh38]
Chr11:66668570 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1513+9C>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000367172]|not specified [RCV000117897] Chr11:66853230 [GRCh38]
Chr11:66620701 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.2224-9T>G single nucleotide variant Pyruvate carboxylase deficiency [RCV000284115]|not provided [RCV000676960]|not specified [RCV000127314] Chr11:66850932 [GRCh38]
Chr11:66618403 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) single nucleotide variant Pyruvate carboxylase deficiency [RCV000970566]|not specified [RCV000127315] Chr11:66850898 [GRCh38]
Chr11:66618369 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2550C>T (p.Cys850=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000347109]|not specified [RCV000127316] Chr11:66850388 [GRCh38]
Chr11:66617859 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2580C>T (p.Asp860=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000289851]|not provided [RCV000676959]|not specified [RCV000127317] Chr11:66850358 [GRCh38]
Chr11:66617829 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.1-35650G>A single nucleotide variant not specified [RCV000127318] Chr11:66907809 [GRCh38]
Chr11:66675280 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.216G>A (p.Thr72=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000279552]|not provided [RCV000676962]|not specified [RCV000127319] Chr11:66871792 [GRCh38]
Chr11:66639263 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.904-17C>T single nucleotide variant not specified [RCV000127320] Chr11:66868981 [GRCh38]
Chr11:66636452 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.1368+11G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001107031]|not specified [RCV000127321] Chr11:66863763 [GRCh38]
Chr11:66631234 [GRCh37]
Chr11:11q13.2
benign|uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_001040716.2(PC):c.1368+3605C>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001332612] Chr11:66860169 [GRCh38]
Chr11:66627640 [GRCh37]
Chr11:11q13.2
pathogenic
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2
pathogenic
NM_001040716.2(PC):c.1513+13del deletion Pyruvate carboxylase deficiency [RCV000300746]|not specified [RCV000186099] Chr11:66853226 [GRCh38]
Chr11:66620697 [GRCh37]
Chr11:11q13.2
benign|uncertain significance
NM_001040716.2(PC):c.1519G>A (p.Val507Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV000953657]|not specified [RCV000186100] Chr11:66852831 [GRCh38]
Chr11:66620302 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1551C>T (p.Pro517=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000936993]|not specified [RCV000186101] Chr11:66852799 [GRCh38]
Chr11:66620270 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.1608G>A (p.Pro536=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000354388]|not specified [RCV000186102] Chr11:66852656 [GRCh38]
Chr11:66620127 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) single nucleotide variant not specified [RCV000186103] Chr11:66852497 [GRCh38]
Chr11:66619968 [GRCh37]
Chr11:11q13.2
likely benign
NM_000920.3(PC):c.2182G>A (p.Glu728Lys) single nucleotide variant not specified [RCV000186104] Chr11:66851081 [GRCh38]
Chr11:66618552 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) single nucleotide variant not specified [RCV000186105] Chr11:66851068 [GRCh38]
Chr11:66618539 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2577G>A (p.Ser859=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000941043]|not specified [RCV000186106] Chr11:66850361 [GRCh38]
Chr11:66617832 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.2657A>G (p.Lys886Arg) single nucleotide variant not specified [RCV000186107] Chr11:66850281 [GRCh38]
Chr11:66617752 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000974758]|not specified [RCV000186108] Chr11:66850256 [GRCh38]
Chr11:66617727 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000902578]|not specified [RCV000186109] Chr11:66849260 [GRCh38]
Chr11:66616731 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.14G>A (p.Arg5Gln) single nucleotide variant not specified [RCV000186110] Chr11:66872146 [GRCh38]
Chr11:66639617 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.50G>A (p.Arg17His) single nucleotide variant Pyruvate carboxylase deficiency [RCV001239120]|not specified [RCV000186111] Chr11:66872110 [GRCh38]
Chr11:66639581 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.85G>A (p.Val29Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV001001986]|not specified [RCV000186112] Chr11:66872075 [GRCh38]
Chr11:66639546 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104367]|not specified [RCV000186113] Chr11:66872071 [GRCh38]
Chr11:66639542 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.571A>G (p.Ile191Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001496670]|not specified [RCV000186114] Chr11:66871114 [GRCh38]
Chr11:66638585 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1344G>A (p.Ala448=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000326730]|not specified [RCV000186115] Chr11:66863798 [GRCh38]
Chr11:66631269 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000920.3(PC):c.1489G>A (p.Ala497Thr) single nucleotide variant not specified [RCV000186116] Chr11:66853263 [GRCh38]
Chr11:66620734 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln) single nucleotide variant not provided [RCV000186117] Chr11:66852624 [GRCh38]
Chr11:66620095 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000387311]|not provided [RCV000994671] Chr11:66850031 [GRCh38]
Chr11:66617502 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) single nucleotide variant Pyruvate carboxylase deficiency [RCV000765003]|not provided [RCV000437686] Chr11:66849651 [GRCh38]
Chr11:66617122 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.321+5G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000935621]|not specified [RCV000186124] Chr11:66871682 [GRCh38]
Chr11:66639153 [GRCh37]
Chr11:11q13.2
benign|uncertain significance
NM_001040716.2(PC):c.496G>A (p.Val166Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV000765004]|not provided [RCV000186125] Chr11:66871189 [GRCh38]
Chr11:66638660 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.616G>T (p.Val206Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV001083901]|not provided [RCV000676961]|not specified [RCV000186126] Chr11:66871069 [GRCh38]
Chr11:66638540 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1292C>G (p.Ala431Gly) single nucleotide variant not provided [RCV000186129] Chr11:66863850 [GRCh38]
Chr11:66631321 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) single nucleotide variant not provided [RCV000186118] Chr11:66852547 [GRCh38]
Chr11:66620018 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_000920.3(PC):c.2024G>A (p.Arg675His) single nucleotide variant not provided [RCV000186119] Chr11:66851239 [GRCh38]
Chr11:66618710 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_000920.3(PC):c.2525G>A (p.Arg842Gln) single nucleotide variant not provided [RCV000186120] Chr11:66850413 [GRCh38]
Chr11:66617884 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV000664794]|not provided [RCV000186122] Chr11:66870419 [GRCh38]
Chr11:66637890 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV000632922]|not provided [RCV000186127] Chr11:66870417 [GRCh38]
Chr11:66637888 [GRCh37]
Chr11:11q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.797C>A (p.Ser266Tyr) single nucleotide variant not provided [RCV000186128] Chr11:66870408 [GRCh38]
Chr11:66637879 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) single nucleotide variant Pyruvate carboxylase deficiency [RCV000675135]|not provided [RCV000186130] Chr11:66850112 [GRCh38]
Chr11:66617583 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_001040716.2(PC):c.39C>G (p.Leu13=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001494869] Chr11:66872121 [GRCh38]
Chr11:66639592 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) deletion Pyruvate carboxylase deficiency [RCV000669634] Chr11:66849782..66849784 [GRCh38]
Chr11:66617253..66617255 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2489G>A (p.Arg830His) single nucleotide variant not provided [RCV000756461] Chr11:66850449 [GRCh38]
Chr11:66617920 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2469C>T (p.Asp823=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001083582]|not provided [RCV000756462] Chr11:66850678 [GRCh38]
Chr11:66618149 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3520A>C (p.Ile1174Leu) single nucleotide variant not specified [RCV000238631] Chr11:66848916 [GRCh38]
Chr11:66616387 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) deletion Pyruvate carboxylase deficiency [RCV000670010] Chr11:66863915..66863917 [GRCh38]
Chr11:66631386..66631388 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) single nucleotide variant Pyruvate carboxylase deficiency [RCV000669751] Chr11:66872108 [GRCh38]
Chr11:66639579 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV000670028] Chr11:66850332 [GRCh38]
Chr11:66617803 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.-274A>C single nucleotide variant Pyruvate carboxylase deficiency [RCV000285200] Chr11:66958368 [GRCh38]
Chr11:66725839 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.*373C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000345621] Chr11:66848526 [GRCh38]
Chr11:66615997 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.543C>T (p.His181=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000374071] Chr11:66871142 [GRCh38]
Chr11:66638613 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1401C>T (p.Asn467=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000271718] Chr11:66853351 [GRCh38]
Chr11:66620822 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.879C>T (p.Ser293=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000292711] Chr11:66870326 [GRCh38]
Chr11:66637797 [GRCh37]
Chr11:11q13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.*353A>G single nucleotide variant Pyruvate carboxylase deficiency [RCV000404528] Chr11:66848546 [GRCh38]
Chr11:66616017 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1514-6C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000406206]|not provided [RCV000928209] Chr11:66852842 [GRCh38]
Chr11:66620313 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2719-5_2719-3del microsatellite Pyruvate carboxylase deficiency [RCV000295448] Chr11:66850119..66850121 [GRCh38]
Chr11:66617590..66617592 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.*15G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000260329]|not specified [RCV000429446] Chr11:66848884 [GRCh38]
Chr11:66616355 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.1167G>A (p.Pro389=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000277502]|not specified [RCV000425550] Chr11:66866205 [GRCh38]
Chr11:66633676 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) single nucleotide variant Pyruvate carboxylase deficiency [RCV000317908] Chr11:66848963 [GRCh38]
Chr11:66616434 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2292C>G (p.Pro764=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000392379] Chr11:66850855 [GRCh38]
Chr11:66618326 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.715A>G (p.Ile239Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000319569] Chr11:66870811 [GRCh38]
Chr11:66638282 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.52C>A (p.Arg18=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000393481]|not specified [RCV000616361] Chr11:66872108 [GRCh38]
Chr11:66639579 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000263852] Chr11:66849095 [GRCh38]
Chr11:66616566 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000330539]|not specified [RCV000441993] Chr11:66849320 [GRCh38]
Chr11:66616791 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) single nucleotide variant Pyruvate carboxylase deficiency [RCV000402939] Chr11:66852562 [GRCh38]
Chr11:66620033 [GRCh37]
Chr11:11q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1023-14C>G single nucleotide variant Pyruvate carboxylase deficiency [RCV000332434] Chr11:66866363 [GRCh38]
Chr11:66633834 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV000356215] Chr11:66849001 [GRCh38]
Chr11:66616472 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.*164dup duplication Pyruvate carboxylase deficiency [RCV000396175] Chr11:66848734..66848735 [GRCh38]
Chr11:66616205..66616206 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*185G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000358544] Chr11:66848714 [GRCh38]
Chr11:66616185 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*43C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000361559] Chr11:66848856 [GRCh38]
Chr11:66616327 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.927C>T (p.Thr309=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000387000]|not specified [RCV000612724] Chr11:66868941 [GRCh38]
Chr11:66636412 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1233C>T (p.Ser411=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000362739] Chr11:66863909 [GRCh38]
Chr11:66631380 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2224-31TC[8] microsatellite Pyruvate carboxylase deficiency [RCV000341533]|not provided [RCV001548073] Chr11:66850937..66850938 [GRCh38]
Chr11:66618408..66618409 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.1185+5_1185+8del deletion Pyruvate carboxylase deficiency [RCV000675082]|not provided [RCV000489540] Chr11:66866179..66866182 [GRCh38]
Chr11:66633650..66633653 [GRCh37]
Chr11:11q13.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn) single nucleotide variant not provided [RCV000489791] Chr11:66848922 [GRCh38]
Chr11:66616393 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.752-153C>T single nucleotide variant not provided [RCV001575085] Chr11:66870606 [GRCh38]
Chr11:66638077 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1173C>T (p.Thr391=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001485716]|not provided [RCV000935124]|not specified [RCV000602836] Chr11:66866199 [GRCh38]
Chr11:66633670 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.*161C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000304540] Chr11:66848738 [GRCh38]
Chr11:66616209 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV000334127] Chr11:66850233 [GRCh38]
Chr11:66617704 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.75C>T (p.Ala25=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000334649] Chr11:66872085 [GRCh38]
Chr11:66639556 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) single nucleotide variant Pyruvate carboxylase deficiency [RCV000297072] Chr11:66852618 [GRCh38]
Chr11:66620089 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*203T>C single nucleotide variant Pyruvate carboxylase deficiency [RCV000310710] Chr11:66848696 [GRCh38]
Chr11:66616167 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.-282G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000340170] Chr11:66958376 [GRCh38]
Chr11:66725847 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1368+1G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000516896] Chr11:66863773 [GRCh38]
Chr11:66631244 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.1604-17G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001511494]|not specified [RCV000605239] Chr11:66852677 [GRCh38]
Chr11:66620148 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.920C>T (p.Ala307Val) single nucleotide variant not provided [RCV000722400] Chr11:66868948 [GRCh38]
Chr11:66636419 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met) single nucleotide variant not provided [RCV000522598] Chr11:66849750 [GRCh38]
Chr11:66617221 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2748C>T (p.Asp916=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000885476]|not specified [RCV000430940] Chr11:66850087 [GRCh38]
Chr11:66617558 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.840C>T (p.Ala280=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000937002]|not specified [RCV000428226] Chr11:66870365 [GRCh38]
Chr11:66637836 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.904-16G>A single nucleotide variant not specified [RCV000442235] Chr11:66868980 [GRCh38]
Chr11:66636451 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1023-14C>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001107690]|not specified [RCV000442436] Chr11:66866363 [GRCh38]
Chr11:66633834 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.1354G>A (p.Val452Ile) single nucleotide variant not provided [RCV000423383] Chr11:66863788 [GRCh38]
Chr11:66631259 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2304G>C (p.Leu768=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000970738]|not specified [RCV000432354] Chr11:66850843 [GRCh38]
Chr11:66618314 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2325G>A (p.Thr775=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000896487]|not specified [RCV000439550] Chr11:66850822 [GRCh38]
Chr11:66618293 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.634-4G>A single nucleotide variant not specified [RCV000429242] Chr11:66870896 [GRCh38]
Chr11:66638367 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2223+19C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001519642]|not specified [RCV000439781] Chr11:66851021 [GRCh38]
Chr11:66618492 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.1267G>A (p.Asp423Asn) single nucleotide variant not provided [RCV000429009] Chr11:66863875 [GRCh38]
Chr11:66631346 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.3288+20C>T single nucleotide variant not specified [RCV000422319] Chr11:66849210 [GRCh38]
Chr11:66616681 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) single nucleotide variant Pyruvate carboxylase deficiency [RCV000675077]|not provided [RCV000431389] Chr11:66870409 [GRCh38]
Chr11:66637880 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_001040716.2(PC):c.2224-18C>A single nucleotide variant not specified [RCV000422544] Chr11:66850941 [GRCh38]
Chr11:66618412 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3429G>T (p.Met1143Ile) single nucleotide variant not provided [RCV000431784] Chr11:66849007 [GRCh38]
Chr11:66616478 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV000675086]|not provided [RCV000433773] Chr11:66866191 [GRCh38]
Chr11:66633662 [GRCh37]
Chr11:11q13.2
likely pathogenic|uncertain significance
NM_001040716.2(PC):c.2706C>T (p.Gly902=) single nucleotide variant not provided [RCV000676957]|not specified [RCV000423203] Chr11:66850232 [GRCh38]
Chr11:66617703 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000974800]|not specified [RCV000433864] Chr11:66849094 [GRCh38]
Chr11:66616565 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.96G>A (p.Leu32=) single nucleotide variant not specified [RCV000420384] Chr11:66872064 [GRCh38]
Chr11:66639535 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.159C>T (p.Phe53=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001418101]|not specified [RCV000430683] Chr11:66871849 [GRCh38]
Chr11:66639320 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1603+4G>T single nucleotide variant not specified [RCV000433984] Chr11:66852743 [GRCh38]
Chr11:66620214 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3171G>A (p.Thr1057=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000954459]|not specified [RCV000444764] Chr11:66849347 [GRCh38]
Chr11:66616818 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1043del (p.Gln348fs) deletion not provided [RCV000483564] Chr11:66866329 [GRCh38]
Chr11:66633800 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) single nucleotide variant Pyruvate carboxylase deficiency [RCV000504155] Chr11:66863785 [GRCh38]
Chr11:66631256 [GRCh37]
Chr11:11q13.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg) single nucleotide variant not provided [RCV000493902] Chr11:66852580 [GRCh38]
Chr11:66620051 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) single nucleotide variant Pyruvate carboxylase deficiency [RCV000576201] Chr11:66850270 [GRCh38]
Chr11:66617741 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.3289-10G>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001420078]|not specified [RCV000609550] Chr11:66849157 [GRCh38]
Chr11:66616628 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1-37A>C single nucleotide variant not specified [RCV000612126] Chr11:66872196 [GRCh38]
Chr11:66639667 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2880C>T (p.Pro960=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001398913]|not provided [RCV000932556]|not specified [RCV000609733] Chr11:66849955 [GRCh38]
Chr11:66617426 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2118C>T (p.Tyr706=) single nucleotide variant not specified [RCV000612606] Chr11:66851145 [GRCh38]
Chr11:66618616 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.486G>A (p.Ala162=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104063]|not specified [RCV000612642] Chr11:66871316 [GRCh38]
Chr11:66638787 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.-228+9C>T single nucleotide variant not specified [RCV000615572] Chr11:66958313 [GRCh38]
Chr11:66725784 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1446C>T (p.Asp482=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001000777]|not specified [RCV000610943] Chr11:66853306 [GRCh38]
Chr11:66620777 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.3033T>C (p.Ala1011=) single nucleotide variant not specified [RCV000611069] Chr11:66849725 [GRCh38]
Chr11:66617196 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1140C>A (p.Thr380=) single nucleotide variant not specified [RCV000608596] Chr11:66866232 [GRCh38]
Chr11:66633703 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1683G>A (p.Pro561=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000905377]|not specified [RCV000611626] Chr11:66852581 [GRCh38]
Chr11:66620052 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000921060]|not specified [RCV000605002] Chr11:66849100 [GRCh38]
Chr11:66616571 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.331G>A (p.Val111Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV000632921] Chr11:66871471 [GRCh38]
Chr11:66638942 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1022+1G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000672699] Chr11:66868845 [GRCh38]
Chr11:66636316 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) indel Pyruvate carboxylase deficiency [RCV000670716] Chr11:66849616..66849617 [GRCh38]
Chr11:66617087..66617088 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) duplication Pyruvate carboxylase deficiency [RCV000670832] Chr11:66849073..66849074 [GRCh38]
Chr11:66616544..66616545 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) single nucleotide variant Pyruvate carboxylase deficiency [RCV000707608]|not provided [RCV000676956] Chr11:66849045 [GRCh38]
Chr11:66616516 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1-35661G>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000671091] Chr11:66907820 [GRCh38]
Chr11:66675291 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) microsatellite Pyruvate carboxylase deficiency [RCV000665453] Chr11:66849285..66849287 [GRCh38]
Chr11:66616756..66616758 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.584C>T (p.Ala195Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000667975] Chr11:66871101 [GRCh38]
Chr11:66638572 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) duplication Pyruvate carboxylase deficiency [RCV000671691] Chr11:66850327..66850328 [GRCh38]
Chr11:66617798..66617799 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.633+38_633+58del deletion Pyruvate carboxylase deficiency [RCV000672056] Chr11:66870994..66871014 [GRCh38]
Chr11:66638465..66638485 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV000665403] Chr11:66870399 [GRCh38]
Chr11:66637870 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer) microsatellite Pyruvate carboxylase deficiency [RCV000672343] Chr11:66850444..66850445 [GRCh38]
Chr11:66617915..66617916 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.633+2T>C single nucleotide variant Pyruvate carboxylase deficiency [RCV000666561] Chr11:66871050 [GRCh38]
Chr11:66638521 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) microsatellite Pyruvate carboxylase deficiency [RCV000673523] Chr11:66850222..66850224 [GRCh38]
Chr11:66617693..66617695 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.2(chr11:66662614-66975223)x3 copy number gain not provided [RCV000683330] Chr11:66662614..66975223 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.372_375del (p.Ala125fs) microsatellite Pyruvate carboxylase deficiency [RCV000698019] Chr11:66871427..66871430 [GRCh38]
Chr11:66638898..66638901 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV000691801] Chr11:66848974 [GRCh38]
Chr11:66616445 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) single nucleotide variant Pyruvate carboxylase deficiency [RCV000714682] Chr11:66851940 [GRCh38]
Chr11:66619411 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2231C>T (p.Ala744Val) single nucleotide variant not provided [RCV000722468] Chr11:66850916 [GRCh38]
Chr11:66618387 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000938670] Chr11:66850403 [GRCh38]
Chr11:66617874 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2151G>A (p.Lys717=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001445370]|not provided [RCV000940975] Chr11:66851112 [GRCh38]
Chr11:66618583 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1932G>C (p.Arg644=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001466351]|not provided [RCV000980517] Chr11:66851840 [GRCh38]
Chr11:66619311 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1683G>T (p.Pro561=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001489789]|not provided [RCV000980743] Chr11:66852581 [GRCh38]
Chr11:66620052 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2268C>T (p.Val756=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001425251]|not provided [RCV000939957] Chr11:66850879 [GRCh38]
Chr11:66618350 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1-245G>C single nucleotide variant not provided [RCV001549769] Chr11:66872404 [GRCh38]
Chr11:66639875 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.264C>T (p.Arg88=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000975684] Chr11:66871744 [GRCh38]
Chr11:66639215 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1110C>T (p.Asn370=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000899361] Chr11:66866262 [GRCh38]
Chr11:66633733 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1513+10G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000925139] Chr11:66853229 [GRCh38]
Chr11:66620700 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3012G>A (p.Pro1004=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001406904]|not provided [RCV000893513] Chr11:66849746 [GRCh38]
Chr11:66617217 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2154C>T (p.Tyr718=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000944465] Chr11:66851109 [GRCh38]
Chr11:66618580 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1825+1G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000779075] Chr11:66852438 [GRCh38]
Chr11:66619909 [GRCh37]
Chr11:11q13.2
uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2
pathogenic
NM_001040716.2(PC):c.354C>T (p.Tyr118=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001400617]|not provided [RCV000901110] Chr11:66871448 [GRCh38]
Chr11:66638919 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3148-10C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000942469] Chr11:66849380 [GRCh38]
Chr11:66616851 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3069C>T (p.Phe1023=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000926493] Chr11:66849689 [GRCh38]
Chr11:66617160 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1494A>G (p.Gln498=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000906857] Chr11:66853258 [GRCh38]
Chr11:66620729 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2766G>A (p.Val922=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000942832] Chr11:66850069 [GRCh38]
Chr11:66617540 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1560C>A (p.Ala520=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001425295]|not provided [RCV000980483] Chr11:66852790 [GRCh38]
Chr11:66620261 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2899-9G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000950205] Chr11:66849868 [GRCh38]
Chr11:66617339 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.60C>T (p.Ser20=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000916791] Chr11:66872100 [GRCh38]
Chr11:66639571 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2739C>T (p.Ile913=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000941550] Chr11:66850096 [GRCh38]
Chr11:66617567 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3483T>C (p.His1161=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000979106] Chr11:66848953 [GRCh38]
Chr11:66616424 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.1896G>A (p.Glu632=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000981986] Chr11:66851876 [GRCh38]
Chr11:66619347 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.855G>A (p.Pro285=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000902749] Chr11:66870350 [GRCh38]
Chr11:66637821 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2592T>C (p.Asn864=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000892109] Chr11:66850346 [GRCh38]
Chr11:66617817 [GRCh37]
Chr11:11q13.2
benign|likely benign
NM_001040716.2(PC):c.1581C>T (p.Pro527=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000925623] Chr11:66852769 [GRCh38]
Chr11:66620240 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2829C>T (p.Ser943=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000896267] Chr11:66850006 [GRCh38]
Chr11:66617477 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2224-4C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000975875] Chr11:66850927 [GRCh38]
Chr11:66618398 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2473+8G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000979303] Chr11:66850666 [GRCh38]
Chr11:66618137 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1503G>A (p.Leu501=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001397202]|not provided [RCV000981070] Chr11:66853249 [GRCh38]
Chr11:66620720 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3387C>G (p.Ala1129=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001454317]|not provided [RCV000981134] Chr11:66849049 [GRCh38]
Chr11:66616520 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3009G>A (p.Thr1003=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000944418] Chr11:66849749 [GRCh38]
Chr11:66617220 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2214G>A (p.Leu738=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000939253] Chr11:66851049 [GRCh38]
Chr11:66618520 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3240C>T (p.Leu1080=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001489293]|not provided [RCV000945187] Chr11:66849278 [GRCh38]
Chr11:66616749 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3513C>T (p.Asp1171=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000932553] Chr11:66848923 [GRCh38]
Chr11:66616394 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2232C>T (p.Ala744=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000897326] Chr11:66850915 [GRCh38]
Chr11:66618386 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.440G>A (p.Arg147His) single nucleotide variant Pyruvate carboxylase deficiency [RCV000818978] Chr11:66871362 [GRCh38]
Chr11:66638833 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.485C>T (p.Ala162Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000822890] Chr11:66871317 [GRCh38]
Chr11:66638788 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2423C>A (p.Pro808His) single nucleotide variant Pyruvate carboxylase deficiency [RCV000816002] Chr11:66850724 [GRCh38]
Chr11:66618195 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.951C>T (p.His317=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000891530] Chr11:66868917 [GRCh38]
Chr11:66636388 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) single nucleotide variant Pyruvate carboxylase deficiency [RCV000804917]|not provided [RCV001556189] Chr11:66866297 [GRCh38]
Chr11:66633768 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1833G>A (p.Thr611=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000893374] Chr11:66851939 [GRCh38]
Chr11:66619410 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2127C>T (p.Asp709=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001406018]|not provided [RCV000840222] Chr11:66851136 [GRCh38]
Chr11:66618607 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1512C>T (p.Leu504=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000815111] Chr11:66853240 [GRCh38]
Chr11:66620711 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV000799656] Chr11:66866222 [GRCh38]
Chr11:66633693 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3288+16G>C single nucleotide variant not provided [RCV000839214] Chr11:66849214 [GRCh38]
Chr11:66616685 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.-228+18T>C single nucleotide variant not provided [RCV000841905] Chr11:66958304 [GRCh38]
Chr11:66725775 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2227A>G (p.Met743Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV000815369] Chr11:66850920 [GRCh38]
Chr11:66618391 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV000785069] Chr11:66852657 [GRCh38]
Chr11:66620128 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1020C>G (p.Thr340=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000942448] Chr11:66868848 [GRCh38]
Chr11:66636319 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1296C>T (p.His432=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000940599] Chr11:66863846 [GRCh38]
Chr11:66631317 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1022+154C>A single nucleotide variant not provided [RCV000836136] Chr11:66868692 [GRCh38]
Chr11:66636163 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.752-5C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001081074]|not provided [RCV000842630] Chr11:66870458 [GRCh38]
Chr11:66637929 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) single nucleotide variant Pyruvate carboxylase deficiency [RCV000988582] Chr11:66870390 [GRCh38]
Chr11:66637861 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.1514-2A>G single nucleotide variant Pyruvate carboxylase deficiency [RCV001208930] Chr11:66852838 [GRCh38]
Chr11:66620309 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.374C>T (p.Ala125Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001242184] Chr11:66871428 [GRCh38]
Chr11:66638899 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg) single nucleotide variant Pyruvate carboxylase deficiency [RCV001242214] Chr11:66853343 [GRCh38]
Chr11:66620814 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*89G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001103866]|not provided [RCV001564456] Chr11:66848810 [GRCh38]
Chr11:66616281 [GRCh37]
Chr11:11q13.2
likely benign|uncertain significance
NM_001040716.2(PC):c.3004G>A (p.Val1002Met) single nucleotide variant Pyruvate carboxylase deficiency [RCV001106926] Chr11:66849754 [GRCh38]
Chr11:66617225 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*188G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001107495] Chr11:66848711 [GRCh38]
Chr11:66616182 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1022+283G>A single nucleotide variant not provided [RCV001574288] Chr11:66868563 [GRCh38]
Chr11:66636034 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs) microsatellite Pyruvate carboxylase deficiency [RCV001542480] Chr11:66866217..66866218 [GRCh38]
Chr11:66633688..66633689 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.1185+172G>A single nucleotide variant not provided [RCV001568778] Chr11:66866015 [GRCh38]
Chr11:66633486 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1023-231A>G single nucleotide variant not provided [RCV001550547] Chr11:66866580 [GRCh38]
Chr11:66634051 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1023-57C>T single nucleotide variant not provided [RCV001550947] Chr11:66866406 [GRCh38]
Chr11:66633877 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1368+294G>A single nucleotide variant not provided [RCV001564277] Chr11:66863480 [GRCh38]
Chr11:66630951 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1983-92A>T single nucleotide variant not provided [RCV001563240] Chr11:66851372 [GRCh38]
Chr11:66618843 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1368+142T>C single nucleotide variant not provided [RCV001541263] Chr11:66863632 [GRCh38]
Chr11:66631103 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2724G>A (p.Thr908=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001407884]|not provided [RCV000977996] Chr11:66850111 [GRCh38]
Chr11:66617582 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3030A>G (p.Ala1010=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001452114]|not provided [RCV000931573] Chr11:66849728 [GRCh38]
Chr11:66617199 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.552C>T (p.Ser184=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001399809]|not provided [RCV000975340] Chr11:66871133 [GRCh38]
Chr11:66638604 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1353C>T (p.Arg451=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000895801] Chr11:66863789 [GRCh38]
Chr11:66631260 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1050C>T (p.His350=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000931619] Chr11:66866322 [GRCh38]
Chr11:66633793 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1299C>G (p.Gly433=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001419364]|not provided [RCV000931649] Chr11:66863843 [GRCh38]
Chr11:66631314 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1614G>A (p.Pro538=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000940528] Chr11:66852650 [GRCh38]
Chr11:66620121 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1221G>A (p.Leu407=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000979561] Chr11:66863921 [GRCh38]
Chr11:66631392 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.975C>G (p.Val325=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000909973] Chr11:66868893 [GRCh38]
Chr11:66636364 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.136+9C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000909984] Chr11:66872015 [GRCh38]
Chr11:66639486 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly) single nucleotide variant Pyruvate carboxylase deficiency [RCV000974766] Chr11:66849306 [GRCh38]
Chr11:66616777 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1842C>T (p.Val614=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000925744] Chr11:66851930 [GRCh38]
Chr11:66619401 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2856C>T (p.Ile952=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000908634] Chr11:66849979 [GRCh38]
Chr11:66617450 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.322-10C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV000886225] Chr11:66871490 [GRCh38]
Chr11:66638961 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.1701C>T (p.Asp567=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000897040] Chr11:66852563 [GRCh38]
Chr11:66620034 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.918C>T (p.Asn306=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000941602] Chr11:66868950 [GRCh38]
Chr11:66636421 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1257G>A (p.Ser419=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001496324]|not provided [RCV000978963] Chr11:66863885 [GRCh38]
Chr11:66631356 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV000976136] Chr11:66852761 [GRCh38]
Chr11:66620232 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.2019C>T (p.Val673=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000978273] Chr11:66851244 [GRCh38]
Chr11:66618715 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1530C>T (p.Asn510=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000919746] Chr11:66852820 [GRCh38]
Chr11:66620291 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.474C>T (p.Ile158=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000938352] Chr11:66871328 [GRCh38]
Chr11:66638799 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2886C>T (p.Pro962=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001430041]|not provided [RCV000886996] Chr11:66849949 [GRCh38]
Chr11:66617420 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1431C>T (p.Asp477=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000978766] Chr11:66853321 [GRCh38]
Chr11:66620792 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1704G>A (p.Thr568=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000931462] Chr11:66852560 [GRCh38]
Chr11:66620031 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1974G>C (p.Val658=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000931479] Chr11:66851798 [GRCh38]
Chr11:66619269 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000921391] Chr11:66848905 [GRCh38]
Chr11:66616376 [GRCh37]
Chr11:11q13.2
likely benign|conflicting interpretations of pathogenicity
NM_001040716.2(PC):c.2355C>T (p.Ala785=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001415411]|not provided [RCV000983278] Chr11:66850792 [GRCh38]
Chr11:66618263 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1443C>T (p.Ile481=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000904605] Chr11:66853309 [GRCh38]
Chr11:66620780 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2718+9G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV000917009] Chr11:66850211 [GRCh38]
Chr11:66617682 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1168dup (p.Asp390fs) duplication Pyruvate carboxylase deficiency [RCV001222498] Chr11:66866203..66866204 [GRCh38]
Chr11:66633674..66633675 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser) single nucleotide variant Pyruvate carboxylase deficiency [RCV001244641] Chr11:66849304 [GRCh38]
Chr11:66616775 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001239246] Chr11:66852493 [GRCh38]
Chr11:66619964 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3288+5T>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001106923] Chr11:66849225 [GRCh38]
Chr11:66616696 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1513+6G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001107029] Chr11:66853233 [GRCh38]
Chr11:66620704 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2224-14C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001103976] Chr11:66850937 [GRCh38]
Chr11:66618408 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1513+14C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001104270] Chr11:66853225 [GRCh38]
Chr11:66620696 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.64G>A (p.Ala22Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104369] Chr11:66872096 [GRCh38]
Chr11:66639567 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.-272G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001104370] Chr11:66958366 [GRCh38]
Chr11:66725837 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2076G>A (p.Ala692=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000911733] Chr11:66851187 [GRCh38]
Chr11:66618658 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.843C>T (p.Ala281=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000889693] Chr11:66870362 [GRCh38]
Chr11:66637833 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2124C>T (p.Gly708=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000912731] Chr11:66851139 [GRCh38]
Chr11:66618610 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.561C>T (p.Tyr187=) single nucleotide variant Pyruvate carboxylase deficiency [RCV000912732] Chr11:66871124 [GRCh38]
Chr11:66638595 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1471C>T (p.Arg491Trp) single nucleotide variant not provided [RCV001562463] Chr11:66853281 [GRCh38]
Chr11:66620752 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.190G>A (p.Val64Ile) single nucleotide variant not provided [RCV001567595] Chr11:66871818 [GRCh38]
Chr11:66639289 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1513+28CCTCC[2] microsatellite not provided [RCV001559648] Chr11:66853197..66853201 [GRCh38]
Chr11:66620668..66620672 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser) single nucleotide variant not provided [RCV001561390] Chr11:66849276 [GRCh38]
Chr11:66616747 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1514-13G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001104269] Chr11:66852849 [GRCh38]
Chr11:66620320 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.904-11C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001107691] Chr11:66868975 [GRCh38]
Chr11:66636446 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*106G>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001103864] Chr11:66848793 [GRCh38]
Chr11:66616264 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.*101G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001103865] Chr11:66848798 [GRCh38]
Chr11:66616269 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys) single nucleotide variant Pyruvate carboxylase deficiency [RCV001103977] Chr11:66851120 [GRCh38]
Chr11:66618591 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2019C>A (p.Val673=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001103978] Chr11:66851244 [GRCh38]
Chr11:66618715 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.751+13G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001104061] Chr11:66870762 [GRCh38]
Chr11:66638233 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu) single nucleotide variant Pyruvate carboxylase deficiency [RCV001105813] Chr11:66848994 [GRCh38]
Chr11:66616465 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3399G>A (p.Lys1133=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001105814] Chr11:66849037 [GRCh38]
Chr11:66616508 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3364G>C (p.Asp1122His) single nucleotide variant Pyruvate carboxylase deficiency [RCV001105815] Chr11:66849072 [GRCh38]
Chr11:66616543 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3148-14C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001106925] Chr11:66849384 [GRCh38]
Chr11:66616855 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1377C>T (p.Ile459=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001107030] Chr11:66853375 [GRCh38]
Chr11:66620846 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001107032] Chr11:66863876 [GRCh38]
Chr11:66631347 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV001107591] Chr11:66850052 [GRCh38]
Chr11:66617523 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.*88G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001103867] Chr11:66848811 [GRCh38]
Chr11:66616282 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1983-91G>T single nucleotide variant not provided [RCV001547928] Chr11:66851371 [GRCh38]
Chr11:66618842 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2306A>T (p.His769Leu) single nucleotide variant Congenital lactic acidosis [RCV001003597] Chr11:66850841 [GRCh38]
Chr11:66618312 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.3306dup (p.Lys1103fs) duplication Pyruvate carboxylase deficiency [RCV001196289] Chr11:66849129..66849130 [GRCh38]
Chr11:66616600..66616601 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly) single nucleotide variant Pyruvate carboxylase deficiency [RCV001206275] Chr11:66850049 [GRCh38]
Chr11:66617520 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.229C>T (p.Arg77Trp) single nucleotide variant Congenital lactic acidosis [RCV001003598] Chr11:66871779 [GRCh38]
Chr11:66639250 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.563G>T (p.Gly188Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104062] Chr11:66871122 [GRCh38]
Chr11:66638593 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala) single nucleotide variant Pyruvate carboxylase deficiency [RCV001206844] Chr11:66849053 [GRCh38]
Chr11:66616524 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV001196290] Chr11:66851895 [GRCh38]
Chr11:66619366 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001106924] Chr11:66849305 [GRCh38]
Chr11:66616776 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) single nucleotide variant Pyruvate carboxylase deficiency [RCV001103979] Chr11:66852508 [GRCh38]
Chr11:66619979 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.841G>A (p.Ala281Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001107692] Chr11:66870364 [GRCh38]
Chr11:66637835 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1048C>G (p.His350Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV001245711] Chr11:66866324 [GRCh38]
Chr11:66633795 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.903+2T>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001214966] Chr11:66870300 [GRCh38]
Chr11:66637771 [GRCh37]
Chr11:11q13.2
likely pathogenic
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn) single nucleotide variant Pyruvate carboxylase deficiency [RCV001103975] Chr11:66850866 [GRCh38]
Chr11:66618337 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104268] Chr11:66852600 [GRCh38]
Chr11:66620071 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.78C>A (p.Ser26=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001104368] Chr11:66872082 [GRCh38]
Chr11:66639553 [GRCh37]
Chr11:11q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001040716.2(PC):c.449_451dup (p.Gly150dup) duplication Pyruvate carboxylase deficiency [RCV001254095] Chr11:66871350..66871351 [GRCh38]
Chr11:66638821..66638822 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1408C>T (p.Gln470Ter) single nucleotide variant Global developmental delay [RCV001255416] Chr11:66853344 [GRCh38]
Chr11:66620815 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter) single nucleotide variant Pyruvate carboxylase deficiency [RCV001261600] Chr11:66853272 [GRCh38]
Chr11:66620743 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1524G>A (p.Met508Ile) single nucleotide variant Pyruvate carboxylase deficiency [RCV001320605] Chr11:66852826 [GRCh38]
Chr11:66620297 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.838G>A (p.Ala280Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001298604] Chr11:66870367 [GRCh38]
Chr11:66637838 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3496A>G (p.Met1166Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001332614] Chr11:66848940 [GRCh38]
Chr11:66616411 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1-4C>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001334604] Chr11:66872163 [GRCh38]
Chr11:66639634 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1023-33C>T single nucleotide variant not provided [RCV001537201] Chr11:66866382 [GRCh38]
Chr11:66633853 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1395G>T (p.Val465=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001434060] Chr11:66853357 [GRCh38]
Chr11:66620828 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2574C>T (p.Asn858=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001412362] Chr11:66850364 [GRCh38]
Chr11:66617835 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.634-10G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001422974] Chr11:66870902 [GRCh38]
Chr11:66638373 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.969C>T (p.Ile323=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001396719] Chr11:66868899 [GRCh38]
Chr11:66636370 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.987G>A (p.Leu329=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001414525] Chr11:66868881 [GRCh38]
Chr11:66636352 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2898+10G>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001396950] Chr11:66849927 [GRCh38]
Chr11:66617398 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1185+7G>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001395178] Chr11:66866180 [GRCh38]
Chr11:66633651 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3357G>A (p.Lys1119=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001422612] Chr11:66849079 [GRCh38]
Chr11:66616550 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1690C>T (p.Leu564=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001396716] Chr11:66852574 [GRCh38]
Chr11:66620045 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3501A>G (p.Thr1167=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001433402] Chr11:66848935 [GRCh38]
Chr11:66616406 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2997G>A (p.Gly999=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001414563] Chr11:66849761 [GRCh38]
Chr11:66617232 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3321C>T (p.Asp1107=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001414973] Chr11:66849115 [GRCh38]
Chr11:66616586 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001327605] Chr11:66849724 [GRCh38]
Chr11:66617195 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.3414T>C (p.Cys1138=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001414497] Chr11:66849022 [GRCh38]
Chr11:66616493 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1668T>G (p.Ala556=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001395913] Chr11:66852596 [GRCh38]
Chr11:66620067 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1146C>T (p.Asp382=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001413754] Chr11:66866226 [GRCh38]
Chr11:66633697 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.634-4G>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001433476] Chr11:66870896 [GRCh38]
Chr11:66638367 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1825+3A>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001332613] Chr11:66852436 [GRCh38]
Chr11:66619907 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1074C>T (p.Pro358=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001433300] Chr11:66866298 [GRCh38]
Chr11:66633769 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter) single nucleotide variant Pyruvate carboxylase deficiency [RCV001383248] Chr11:66852601 [GRCh38]
Chr11:66620072 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg) single nucleotide variant Pyruvate carboxylase deficiency [RCV001303116] Chr11:66851121 [GRCh38]
Chr11:66618592 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2031T>C (p.Phe677=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001414087] Chr11:66851232 [GRCh38]
Chr11:66618703 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3384G>A (p.Gly1128=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001397548] Chr11:66849052 [GRCh38]
Chr11:66616523 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.286del (p.Tyr96fs) deletion Pyruvate carboxylase deficiency [RCV001334605] Chr11:66871722 [GRCh38]
Chr11:66639193 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.1248C>T (p.Ala416=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001397633] Chr11:66863894 [GRCh38]
Chr11:66631365 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp) single nucleotide variant Pyruvate carboxylase deficiency [RCV001373698] Chr11:66850271 [GRCh38]
Chr11:66617742 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.256A>G (p.Ile86Val) single nucleotide variant Pyruvate carboxylase deficiency [RCV001324192] Chr11:66871752 [GRCh38]
Chr11:66639223 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001299753] Chr11:66851263 [GRCh38]
Chr11:66618734 [GRCh37]
Chr11:11q13.2
uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Epilepsy, familial temporal lobe, 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3
uncertain significance
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001315111] Chr11:66850700 [GRCh38]
Chr11:66618171 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.1851C>T (p.Arg617=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001421877] Chr11:66851921 [GRCh38]
Chr11:66619392 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2868T>C (p.His956=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001394792] Chr11:66849967 [GRCh38]
Chr11:66617438 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2160G>A (p.Leu720=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001395896] Chr11:66851103 [GRCh38]
Chr11:66618574 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1425T>C (p.Thr475=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001395149] Chr11:66853327 [GRCh38]
Chr11:66620798 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3405G>A (p.Gln1135=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001395173] Chr11:66849031 [GRCh38]
Chr11:66616502 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3117G>A (p.Leu1039=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001395562] Chr11:66849641 [GRCh38]
Chr11:66617112 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr) single nucleotide variant Pyruvate carboxylase deficiency [RCV001327139] Chr11:66863908 [GRCh38]
Chr11:66631379 [GRCh37]
Chr11:11q13.2
uncertain significance
NM_001040716.2(PC):c.2298C>A (p.Leu766=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001506914] Chr11:66850849 [GRCh38]
Chr11:66618320 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.136+8C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001457562] Chr11:66872016 [GRCh38]
Chr11:66639487 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2505T>C (p.Ser835=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001435559] Chr11:66850433 [GRCh38]
Chr11:66617904 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs) deletion Pyruvate carboxylase deficiency [RCV001380178] Chr11:66850818..66850819 [GRCh38]
Chr11:66618289..66618290 [GRCh37]
Chr11:11q13.2
pathogenic
NM_001040716.2(PC):c.2679C>T (p.Ala893=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001478027] Chr11:66850259 [GRCh38]
Chr11:66617730 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2133C>T (p.Ala711=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001461827] Chr11:66851130 [GRCh38]
Chr11:66618601 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2793C>T (p.Ala931=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001492381] Chr11:66850042 [GRCh38]
Chr11:66617513 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1140C>T (p.Thr380=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001457983] Chr11:66866232 [GRCh38]
Chr11:66633703 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2899-9G>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001482559] Chr11:66849868 [GRCh38]
Chr11:66617339 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1311C>G (p.Pro437=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001502926] Chr11:66863831 [GRCh38]
Chr11:66631302 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.894C>T (p.Leu298=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001461384] Chr11:66870311 [GRCh38]
Chr11:66637782 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1650T>C (p.Pro550=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001417186] Chr11:66852614 [GRCh38]
Chr11:66620085 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3072T>C (p.Thr1024=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001490982] Chr11:66849686 [GRCh38]
Chr11:66617157 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1513+9C>T single nucleotide variant Pyruvate carboxylase deficiency [RCV001491128] Chr11:66853230 [GRCh38]
Chr11:66620701 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3288+9T>A single nucleotide variant Pyruvate carboxylase deficiency [RCV001465782] Chr11:66849221 [GRCh38]
Chr11:66616692 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2586T>C (p.Tyr862=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001510715] Chr11:66850352 [GRCh38]
Chr11:66617823 [GRCh37]
Chr11:11q13.2
benign
NM_001040716.2(PC):c.2718+9G>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001402634] Chr11:66850211 [GRCh38]
Chr11:66617682 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.171G>A (p.Thr57=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001505067] Chr11:66871837 [GRCh38]
Chr11:66639308 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.465C>G (p.Ala155=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001473969] Chr11:66871337 [GRCh38]
Chr11:66638808 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1458G>A (p.Glu486=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001496564] Chr11:66853294 [GRCh38]
Chr11:66620765 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.615G>A (p.Arg205=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001417817] Chr11:66871070 [GRCh38]
Chr11:66638541 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3078C>T (p.Thr1026=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001502742] Chr11:66849680 [GRCh38]
Chr11:66617151 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2652C>T (p.Gly884=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001452316] Chr11:66850286 [GRCh38]
Chr11:66617757 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.642G>A (p.Glu214=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001466083] Chr11:66870884 [GRCh38]
Chr11:66638355 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2844G>A (p.Leu948=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001402966] Chr11:66849991 [GRCh38]
Chr11:66617462 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2211C>T (p.Ile737=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001439289] Chr11:66851052 [GRCh38]
Chr11:66618523 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2274C>A (p.Ser758=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001439323] Chr11:66850873 [GRCh38]
Chr11:66618344 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.1944T>C (p.Ala648=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001502914] Chr11:66851828 [GRCh38]
Chr11:66619299 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.921A>C (p.Ala307=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001502962] Chr11:66868947 [GRCh38]
Chr11:66636418 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.3147+7G>C single nucleotide variant Pyruvate carboxylase deficiency [RCV001431244] Chr11:66849604 [GRCh38]
Chr11:66617075 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.465C>T (p.Ala155=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001462356] Chr11:66871337 [GRCh38]
Chr11:66638808 [GRCh37]
Chr11:11q13.2
likely benign
NM_001040716.2(PC):c.2265G>T (p.Leu755=) single nucleotide variant Pyruvate carboxylase deficiency [RCV001474383] Chr11:66850882 [GRCh38]
Chr11:66618353 [GRCh37]
Chr11:11q13.2
likely benign