PRKDC (protein kinase, DNA-activated, catalytic subunit) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PRKDC (protein kinase, DNA-activated, catalytic subunit) Homo sapiens
Analyze
Symbol: PRKDC
Name: protein kinase, DNA-activated, catalytic subunit
RGD ID: 1319072
HGNC Page HGNC:9413
Description: Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; nucleic acid binding activity; and protein serine/threonine kinase activity. Involved in several processes, including nucleic acid metabolic process; positive regulation of nucleobase-containing compound metabolic process; and regulation of innate immune response. Located in DNA-dependent protein kinase complex; nucleolus; and nucleoplasm. Part of several cellular components, including DNA-dependent protein kinase-DNA ligase 4 complex; chromatin; and small-subunit processome. Implicated in immunodeficiency 26.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA-dependent protein kinase catalytic subunit; DNA-PK catalytic subunit; DNA-PKC; DNA-PKcs; DNAPK; DNAPKc; DNPK1; hyper-radiosensitivity of murine scid mutation, complementing 1; HYRC; HYRC1; IMD26; p350; p460; XRCC7
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
GRCh38847,773,111 - 47,960,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl847,773,111 - 47,960,178 (-)EnsemblGRCh38hg38GRCh38
GRCh37848,685,672 - 48,872,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36848,848,222 - 49,035,296 (-)NCBINCBI36Build 36hg18NCBI36
Build 34848,848,221 - 49,035,296NCBI
Celera844,671,051 - 44,858,151 (-)NCBICelera
Cytogenetic Map8q11.21NCBI
HuRef844,148,581 - 44,335,706 (-)NCBIHuRef
CHM1_1848,738,053 - 48,925,105 (-)NCBICHM1_1
T2T-CHM13v2.0848,149,356 - 48,336,384 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-nitropyrene  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-aminobenzamide  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrofluoranthene  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-1,8-naphthalimide  (ISO)
4-hydroxynon-2-enal  (EXP)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (ISO)
alpha-pinene  (EXP)
amphetamine  (ISO)
aphidicolin  (EXP)
arecoline  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzene  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
biphenyl-4-amine  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
bromoacetate  (EXP)
butanal  (EXP)
caffeine  (EXP,ISO)
capsaicin  (EXP)
casticin  (EXP)
chlorpyrifos  (ISO)
chromium atom  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
curcumin  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
etoposide  (EXP)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gallic acid  (EXP)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP,ISO)
indometacin  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
josamycin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
lycopene  (EXP)
methapyrilene  (EXP)
monocrotaline  (ISO)
motexafin gadolinium  (EXP)
myristicin  (EXP)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP,ISO)
ochratoxin A  (ISO)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenol  (EXP)
phenytoin  (ISO)
phosphoramide mustard  (ISO)
pifithrin-?  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
SB 431542  (EXP)
serpentine asbestos  (ISO)
sodium arsenite  (EXP,ISO)
tamibarotene  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
usnic acid  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
wortmannin  (ISO)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of innate immune response  (IDA)
B cell lineage commitment  (IEA,ISO)
brain development  (IEA,ISO)
cellular response to insulin stimulus  (IMP)
chromatin remodeling  (IEA)
DNA damage response  (IDA,IEA)
DNA recombination  (IEA)
DNA repair  (IEA)
double-strand break repair  (IBA,IEA,IMP,ISO)
double-strand break repair via alternative nonhomologous end joining  (TAS)
double-strand break repair via nonhomologous end joining  (IEA,ISO,NAS,TAS)
ectopic germ cell programmed cell death  (IEA,ISO)
heart development  (IEA,ISO)
immature B cell differentiation  (IEA,ISO)
immune system process  (IEA)
immunoglobulin production  (ISO)
immunoglobulin V(D)J recombination  (IBA,IEA,ISO)
innate immune response  (IEA)
intrinsic apoptotic signaling pathway in response to DNA damage  (IBA,IEA,ISO)
lymphocyte differentiation  (IEA,ISO)
maturation of 5.8S rRNA  (IDA)
mitotic G1 DNA damage checkpoint signaling  (IMP)
negative regulation of apoptotic process  (IMP)
negative regulation of cellular senescence  (ISO)
negative regulation of cGAS/STING signaling pathway  (IDA)
negative regulation of immunoglobulin production  (ISO)
negative regulation of protein phosphorylation  (IEA,ISS)
negative regulation of response to gamma radiation  (ISO)
obsolete regulation of nitrogen compound metabolic process  (IEA)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of developmental growth  (ISO)
positive regulation of double-strand break repair via nonhomologous end joining  (IDA)
positive regulation of erythrocyte differentiation  (IEA,ISS)
positive regulation of fibroblast proliferation  (ISO)
positive regulation of immune system process  (ISO)
positive regulation of lymphocyte differentiation  (IEA,ISS)
positive regulation of platelet formation  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IMP)
positive regulation of translation  (IEA,ISS)
pro-B cell differentiation  (IEA,ISO)
protein destabilization  (IEA,ISO)
protein modification process  (TAS)
regulation of cellular response to stress  (IEA)
regulation of circadian rhythm  (IEA,ISS)
regulation of epithelial cell proliferation  (IMP)
regulation of hematopoietic stem cell differentiation  (IEA,ISS)
regulation of macromolecule metabolic process  (IEA)
regulation of primary metabolic process  (IEA)
regulation of smooth muscle cell proliferation  (IMP)
response to activity  (ISO)
response to gamma radiation  (IEA,ISO)
response to ionizing radiation  (IEA,ISO)
rhythmic process  (IEA)
ribosome biogenesis  (IEA)
small-subunit processome assembly  (IDA)
somitogenesis  (IEA,ISO)
spleen development  (ISO)
T cell differentiation in thymus  (IEA,ISO)
T cell lineage commitment  (IEA,ISO)
T cell receptor V(D)J recombination  (IEA,ISO)
telomere capping  (IMP)
telomere maintenance  (IBA,IEA,ISO)
thymus development  (ISO)
V(D)J recombination  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. Araki R, etal., Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2438-43.
2. Severe-combined immunodeficient rats can be used to generate a model of perinatal hypoxic-ischemic brain injury to facilitate studies of engrafted human neural stem cells. Beldick SR, etal., PLoS One. 2018 Nov 28;13(11):e0208105. doi: 10.1371/journal.pone.0208105. eCollection 2018.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Lieber MR Annu Rev Biochem. 2010;79:181-211. doi: 10.1146/annurev.biochem.052308.093131.
5. Generation and characterization of severe combined immunodeficiency rats. Mashimo T, etal., Cell Rep. 2012 Sep 27;2(3):685-94. doi: 10.1016/j.celrep.2012.08.009. Epub 2012 Sep 13.
6. Identification of DNA-dependent protein kinase as a cofactor for the forkhead transcription factor FoxA2. Nock A, etal., J Biol Chem. 2009 Jul 24;284(30):19915-26. Epub 2009 May 28.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1597196   PMID:2247066   PMID:2507541   PMID:7594449   PMID:7638222   PMID:7671312   PMID:8364539   PMID:8407951   PMID:8422676   PMID:8464713   PMID:8642305   PMID:8760815  
PMID:8760901   PMID:8804412   PMID:8917110   PMID:8940078   PMID:8943020   PMID:9035691   PMID:9038175   PMID:9139719   PMID:9259561   PMID:9284934   PMID:9295339   PMID:9312071  
PMID:9325337   PMID:9362500   PMID:9363941   PMID:9372844   PMID:9398855   PMID:9430729   PMID:9435225   PMID:9442054   PMID:9488450   PMID:9525578   PMID:9586635   PMID:9632806  
PMID:9679063   PMID:9722660   PMID:9744860   PMID:9748231   PMID:9765199   PMID:9766667   PMID:9774685   PMID:9914162   PMID:10026262   PMID:10064605   PMID:10207052   PMID:10207111  
PMID:10213687   PMID:10441130   PMID:10446239   PMID:10464290   PMID:10467406   PMID:10470151   PMID:10547363   PMID:10567342   PMID:10601022   PMID:10608806   PMID:10673501   PMID:10713094  
PMID:10747897   PMID:10750018   PMID:10823961   PMID:10951572   PMID:11000264   PMID:11030616   PMID:11070027   PMID:11101529   PMID:11158303   PMID:11160753   PMID:11279128   PMID:11406603  
PMID:11418067   PMID:11551930   PMID:11709713   PMID:11731442   PMID:11739746   PMID:11749722   PMID:11751391   PMID:11790298   PMID:11801738   PMID:11867762   PMID:11883897   PMID:11889123  
PMID:11904432   PMID:11955432   PMID:12023295   PMID:12065055   PMID:12065431   PMID:12171929   PMID:12186630   PMID:12231622   PMID:12379113   PMID:12393188   PMID:12477932   PMID:12509254  
PMID:12519782   PMID:12547193   PMID:12641457   PMID:12672807   PMID:12750264   PMID:12756247   PMID:12897153   PMID:14556663   PMID:14612514   PMID:14627815   PMID:14654699   PMID:14704337  
PMID:14734805   PMID:14744996   PMID:14766968   PMID:14966265   PMID:15071507   PMID:15123719   PMID:15140983   PMID:15147269   PMID:15161933   PMID:15163725   PMID:15190070   PMID:15194694  
PMID:15258142   PMID:15262962   PMID:15272235   PMID:15279776   PMID:15286704   PMID:15302935   PMID:15313891   PMID:15324660   PMID:15353130   PMID:15377652   PMID:15381073   PMID:15385968  
PMID:15389585   PMID:15456891   PMID:15493013   PMID:15509799   PMID:15520013   PMID:15574326   PMID:15592499   PMID:15613478   PMID:15634916   PMID:15635413   PMID:15640154   PMID:15664519  
PMID:15668230   PMID:15668400   PMID:15671175   PMID:15677476   PMID:15678105   PMID:15698568   PMID:15723802   PMID:15758953   PMID:15811628   PMID:15875659   PMID:15936993   PMID:15941674  
PMID:16000298   PMID:16000400   PMID:16001975   PMID:16046194   PMID:16075307   PMID:16166097   PMID:16221682   PMID:16226712   PMID:16263121   PMID:16314509   PMID:16397295   PMID:16449650  
PMID:16510122   PMID:16520097   PMID:16540648   PMID:16541024   PMID:16565220   PMID:16566590   PMID:16600297   PMID:16603769   PMID:16713581   PMID:16751065   PMID:16759233   PMID:16785234  
PMID:16794079   PMID:16857680   PMID:16874298   PMID:16982765   PMID:17081983   PMID:17110338   PMID:17148452   PMID:17171639   PMID:17189255   PMID:17196815   PMID:17213819   PMID:17241822  
PMID:17242407   PMID:17287830   PMID:17308091   PMID:17314511   PMID:17389609   PMID:17389650   PMID:17400507   PMID:17441731   PMID:17526517   PMID:17593081   PMID:17626748   PMID:17764108  
PMID:17786318   PMID:17786349   PMID:17932067   PMID:17963495   PMID:17991316   PMID:18026119   PMID:18158334   PMID:18160036   PMID:18172300   PMID:18246802   PMID:18258596   PMID:18270197  
PMID:18303054   PMID:18406329   PMID:18415044   PMID:18422577   PMID:18426604   PMID:18449888   PMID:18451257   PMID:18505846   PMID:18508926   PMID:18550272   PMID:18644470   PMID:18644989  
PMID:18678286   PMID:18710952   PMID:18728186   PMID:18785202   PMID:18789131   PMID:18799040   PMID:18922151   PMID:18950845   PMID:18952587   PMID:18957425   PMID:19021771   PMID:19071136  
PMID:19074885   PMID:19075392   PMID:19092295   PMID:19135898   PMID:19144640   PMID:19181665   PMID:19198648   PMID:19224683   PMID:19237606   PMID:19270065   PMID:19303849   PMID:19322201  
PMID:19341095   PMID:19351595   PMID:19380743   PMID:19394292   PMID:19444312   PMID:19451221   PMID:19467273   PMID:19573080   PMID:19589246   PMID:19596686   PMID:19602484   PMID:19624897  
PMID:19661379   PMID:19666485   PMID:19672258   PMID:19697154   PMID:19738201   PMID:19773279   PMID:19781633   PMID:19805454   PMID:19815090   PMID:19826009   PMID:19833092   PMID:19851285  
PMID:19918261   PMID:19946888   PMID:20003485   PMID:20023628   PMID:20065038   PMID:20080577   PMID:20085707   PMID:20111054   PMID:20157594   PMID:20204287   PMID:20205745   PMID:20219974  
PMID:20305393   PMID:20356835   PMID:20360068   PMID:20371770   PMID:20379614   PMID:20383123   PMID:20394854   PMID:20427287   PMID:20467437   PMID:20479123   PMID:20496165   PMID:20504901  
PMID:20522537   PMID:20562859   PMID:20590474   PMID:20610542   PMID:20618440   PMID:20668194   PMID:20711232   PMID:20801936   PMID:20808282   PMID:20810650   PMID:20813000   PMID:20878914  
PMID:20936779   PMID:20966071   PMID:20972425   PMID:21037379   PMID:21042724   PMID:21075794   PMID:21081503   PMID:21081666   PMID:21108935   PMID:21145461   PMID:21151955   PMID:21175350  
PMID:21182205   PMID:21188139   PMID:21209461   PMID:21214942   PMID:21300785   PMID:21319273   PMID:21330363   PMID:21346760   PMID:21415862   PMID:21450944   PMID:21487018   PMID:21504906  
PMID:21549307   PMID:21559021   PMID:21565611   PMID:21575865   PMID:21576354   PMID:21671477   PMID:21679440   PMID:21723633   PMID:21731742   PMID:21750982   PMID:21773671   PMID:21775006  
PMID:21852011   PMID:21873635   PMID:21875946   PMID:21905307   PMID:21907836   PMID:21941773   PMID:21969602   PMID:21979916   PMID:22009179   PMID:22027841   PMID:22040967   PMID:22119785  
PMID:22131882   PMID:22139836   PMID:22145905   PMID:22174317   PMID:22184063   PMID:22190034   PMID:22198295   PMID:22242598   PMID:22268729   PMID:22298787   PMID:22310661   PMID:22332739  
PMID:22337587   PMID:22343725   PMID:22366412   PMID:22404984   PMID:22499342   PMID:22504172   PMID:22504299   PMID:22529269   PMID:22586326   PMID:22623428   PMID:22634101   PMID:22658674  
PMID:22681889   PMID:22751105   PMID:22753480   PMID:22815474   PMID:22825692   PMID:22863883   PMID:22865885   PMID:22923485   PMID:22939629   PMID:22952844   PMID:22977523   PMID:23001845  
PMID:23022380   PMID:23098447   PMID:23098854   PMID:23108991   PMID:23125841   PMID:23178489   PMID:23183621   PMID:23184344   PMID:23204796   PMID:23322783   PMID:23325550   PMID:23325849  
PMID:23329831   PMID:23392706   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23449453   PMID:23455922   PMID:23464991   PMID:23505488   PMID:23603433   PMID:23678292   PMID:23722905  
PMID:23739328   PMID:23739334   PMID:23752268   PMID:23775790   PMID:23798571   PMID:23824909   PMID:23858473   PMID:23897887   PMID:23956138   PMID:23979707   PMID:24013362   PMID:24036544  
PMID:24085291   PMID:24136149   PMID:24166892   PMID:24169447   PMID:24187467   PMID:24220101   PMID:24255178   PMID:24278015   PMID:24321528   PMID:24321564   PMID:24332808   PMID:24337577  
PMID:24365180   PMID:24429382   PMID:24457600   PMID:24485452   PMID:24530422   PMID:24535266   PMID:24591637   PMID:24639526   PMID:24657168   PMID:24662822   PMID:24680878   PMID:24711643  
PMID:24819595   PMID:24844881   PMID:24927568   PMID:24979766   PMID:25046228   PMID:25078033   PMID:25205036   PMID:25210793   PMID:25223785   PMID:25294801   PMID:25303530   PMID:25315684  
PMID:25331947   PMID:25332688   PMID:25348361   PMID:25362358   PMID:25437307   PMID:25480831   PMID:25495526   PMID:25503126   PMID:25550082   PMID:25631074   PMID:25670202   PMID:25749521  
PMID:25756210   PMID:25756610   PMID:25771720   PMID:25798074   PMID:25815686   PMID:25823795   PMID:25842288   PMID:25852083   PMID:25852190   PMID:25875766   PMID:25921289   PMID:25925375  
PMID:25941166   PMID:25944161   PMID:25963833   PMID:26017556   PMID:26049366   PMID:26057167   PMID:26065416   PMID:26095369   PMID:26108997   PMID:26166223   PMID:26167880   PMID:26175416  
PMID:26209609   PMID:26221070   PMID:26237645   PMID:26291670   PMID:26344197   PMID:26365377   PMID:26446488   PMID:26464705   PMID:26471122   PMID:26485645   PMID:26496610   PMID:26514267  
PMID:26527279   PMID:26546606   PMID:26578593   PMID:26603896   PMID:26618866   PMID:26652902   PMID:26666690   PMID:26687479   PMID:26772202   PMID:26774662   PMID:26816005   PMID:26949739  
PMID:26972000   PMID:26990988   PMID:26992638   PMID:27025967   PMID:27235137   PMID:27248496   PMID:27255972   PMID:27297111   PMID:27320910   PMID:27342126   PMID:27377895   PMID:27412013  
PMID:27442243   PMID:27462432   PMID:27468692   PMID:27499034   PMID:27535835   PMID:27542412   PMID:27591049   PMID:27629740   PMID:27637333   PMID:27684187   PMID:27693638   PMID:27733644  
PMID:27765904   PMID:27811370   PMID:27829214   PMID:27856181   PMID:27939942   PMID:27988337   PMID:28070830   PMID:28109743   PMID:28154079   PMID:28177883   PMID:28192407   PMID:28300555  
PMID:28302793   PMID:28319085   PMID:28319113   PMID:28330616   PMID:28345663   PMID:28378594   PMID:28399576   PMID:28415827   PMID:28416769   PMID:28448822   PMID:28450160   PMID:28498431  
PMID:28514442   PMID:28515276   PMID:28652322   PMID:28668119   PMID:28675297   PMID:28685749   PMID:28712728   PMID:28750002   PMID:28840859   PMID:28846114   PMID:28902428   PMID:28923836  
PMID:28927264   PMID:28970727   PMID:28977666   PMID:29084207   PMID:29101015   PMID:29117863   PMID:29121065   PMID:29150048   PMID:29162697   PMID:29180619   PMID:29229926   PMID:29285303  
PMID:29309644   PMID:29331416   PMID:29344644   PMID:29397516   PMID:29415883   PMID:29467282   PMID:29478807   PMID:29478914   PMID:29507755   PMID:29564676   PMID:29568061   PMID:29635000  
PMID:29676528   PMID:29777862   PMID:29844126   PMID:29845934   PMID:29911972   PMID:29954236   PMID:29955894   PMID:29991511   PMID:30010942   PMID:30017584   PMID:30021884   PMID:30110629  
PMID:30171075   PMID:30224064   PMID:30247612   PMID:30258100   PMID:30262880   PMID:30274258   PMID:30301934   PMID:30349055   PMID:30352685   PMID:30389599   PMID:30404004   PMID:30409670  
PMID:30425250   PMID:30442662   PMID:30455355   PMID:30459231   PMID:30462309   PMID:30463901   PMID:30476230   PMID:30559450   PMID:30575818   PMID:30585729   PMID:30669930   PMID:30725116  
PMID:30737378   PMID:30804502   PMID:30833792   PMID:30865227   PMID:30940648   PMID:30948266   PMID:30987826   PMID:30995489   PMID:31010829   PMID:31048545   PMID:31059266   PMID:31073040  
PMID:31076518   PMID:31091453   PMID:31111444   PMID:31164689   PMID:31180492   PMID:31189537   PMID:31239290   PMID:31255330   PMID:31300519   PMID:31350979   PMID:31353912   PMID:31365120  
PMID:31392986   PMID:31409639   PMID:31417184   PMID:31464599   PMID:31485633   PMID:31501420   PMID:31513357   PMID:31586073   PMID:31601897   PMID:31620119   PMID:31636387   PMID:31679687  
PMID:31685992   PMID:31715134   PMID:31732153   PMID:31839203   PMID:31871319   PMID:31900314   PMID:31932854   PMID:31934630   PMID:31980649   PMID:31983282   PMID:32041737   PMID:32103174  
PMID:32129710   PMID:32176739   PMID:32209447   PMID:32239614   PMID:32347575   PMID:32416067   PMID:32457294   PMID:32502294   PMID:32521226   PMID:32567663   PMID:32661323   PMID:32665550  
PMID:32674014   PMID:32686190   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32732911   PMID:32780723   PMID:32786267   PMID:32805318   PMID:32807901   PMID:32832608   PMID:32867711  
PMID:32890395   PMID:32929329   PMID:32944396   PMID:33005030   PMID:33022573   PMID:33024031   PMID:33077952   PMID:33111431   PMID:33194618   PMID:33239621   PMID:33273464   PMID:33385326  
PMID:33397691   PMID:33403043   PMID:33404279   PMID:33404607   PMID:33417871   PMID:33545068   PMID:33567341   PMID:33615686   PMID:33644029   PMID:33658012   PMID:33742100   PMID:33759399  
PMID:33766124   PMID:33845483   PMID:33916271   PMID:33961781   PMID:34017080   PMID:34056803   PMID:34111398   PMID:34188037   PMID:34237211   PMID:34244791   PMID:34316707   PMID:34352203  
PMID:34462429   PMID:34551306   PMID:34562454   PMID:34638853   PMID:34687317   PMID:34709727   PMID:34728620   PMID:34763650   PMID:34792128   PMID:34852960   PMID:34936881   PMID:34983926  
PMID:35013218   PMID:35031058   PMID:35031618   PMID:35032548   PMID:35054819   PMID:35102251   PMID:35152003   PMID:35182466   PMID:35227662   PMID:35256949   PMID:35271311   PMID:35290083  
PMID:35338135   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35449157   PMID:35460603   PMID:35468873   PMID:35474131   PMID:35509820   PMID:35546148   PMID:35563538   PMID:35681168  
PMID:35748872   PMID:35777956   PMID:35785414   PMID:35801800   PMID:35801871   PMID:35819319   PMID:35831314   PMID:35844135   PMID:35850772   PMID:35914814   PMID:35944360   PMID:36030824  
PMID:36042349   PMID:36055981   PMID:36057605   PMID:36114006   PMID:36180527   PMID:36180891   PMID:36215168   PMID:36261009   PMID:36266428   PMID:36273042   PMID:36282215   PMID:36373674  
PMID:36376293   PMID:36424410   PMID:36494579   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36574362   PMID:36597993   PMID:36707503   PMID:36727301   PMID:36779763   PMID:36912080  
PMID:37002788   PMID:37120454   PMID:37149747   PMID:37536630   PMID:37827155   PMID:38113892   PMID:38216092   PMID:38280479  


Genomics

Comparative Map Data
PRKDC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38847,773,111 - 47,960,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl847,773,111 - 47,960,178 (-)EnsemblGRCh38hg38GRCh38
GRCh37848,685,672 - 48,872,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36848,848,222 - 49,035,296 (-)NCBINCBI36Build 36hg18NCBI36
Build 34848,848,221 - 49,035,296NCBI
Celera844,671,051 - 44,858,151 (-)NCBICelera
Cytogenetic Map8q11.21NCBI
HuRef844,148,581 - 44,335,706 (-)NCBIHuRef
CHM1_1848,738,053 - 48,925,105 (-)NCBICHM1_1
T2T-CHM13v2.0848,149,356 - 48,336,384 (-)NCBIT2T-CHM13v2.0
Prkdc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391615,455,698 - 15,660,103 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1615,455,730 - 15,660,099 (+)EnsemblGRCm39 Ensembl
GRCm381615,637,444 - 15,842,239 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1615,637,866 - 15,842,235 (+)EnsemblGRCm38mm10GRCm38
MGSCv371615,637,959 - 15,842,332 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361615,551,467 - 15,755,813 (+)NCBIMGSCv36mm8
Celera1616,214,291 - 16,413,213 (+)NCBICelera
Cytogenetic Map16A2NCBI
cM Map1610.09NCBI
Prkdc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81198,544,952 - 98,762,499 (-)NCBIGRCr8
mRatBN7.21185,040,790 - 85,258,357 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1185,040,792 - 85,257,952 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1193,767,902 - 93,984,974 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01186,429,067 - 86,646,132 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01185,482,663 - 85,699,739 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01189,293,547 - 89,510,948 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1189,293,696 - 89,510,871 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01192,347,175 - 92,565,022 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,951,420 - 87,169,229 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,992,362 - 87,209,825 (-)NCBI
Celera1183,781,535 - 83,998,574 (-)NCBICelera
Cytogenetic Map11q23NCBI
Prkdc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554547,733,978 - 7,890,867 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554547,733,697 - 7,890,896 (-)NCBIChiLan1.0ChiLan1.0
PRKDC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2763,407,112 - 63,593,508 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1839,100,871 - 39,287,251 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0844,201,391 - 44,386,803 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1841,593,022 - 41,778,299 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl841,593,029 - 41,778,299 (-)Ensemblpanpan1.1panPan2
PRKDC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12924,904 - 243,926 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2935,007 - 243,895 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha29449,958 - 669,362 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02920,665 - 241,975 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2922,025 - 241,944 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12920,944 - 240,298 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.029218,160 - 435,150 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.029285,564 - 503,393 (-)NCBIUU_Cfam_GSD_1.0
Prkdc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530379,533,069 - 79,697,823 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365904,722,873 - 4,890,156 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365904,722,914 - 4,887,615 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKDC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl479,687,375 - 79,846,656 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1479,687,375 - 79,850,146 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2487,185,946 - 87,343,690 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRKDC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1843,915,226 - 44,119,547 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl843,914,636 - 44,119,541 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603997,968,963 - 98,158,648 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkdc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247357,534,506 - 7,700,305 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247357,534,483 - 7,702,079 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKDC
3845 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006904.7(PRKDC):c.5235+10T>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000554758] Chr8:47879481 [GRCh38]
Chr8:48792042 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001858017]|not provided [RCV000519047] Chr8:47862087 [GRCh38]
Chr8:48774648 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1389G>A (p.Lys463=) single nucleotide variant Inborn genetic diseases [RCV002395474]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000527238] Chr8:47935790 [GRCh38]
Chr8:48848350 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4907A>G (p.Asp1636Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000549993] Chr8:47881967 [GRCh38]
Chr8:48794528 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4594C>T (p.Leu1532Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000551214]|not provided [RCV001577749] Chr8:47886126 [GRCh38]
Chr8:48798687 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12043-230del deletion not provided [RCV001564110] Chr8:47777213 [GRCh38]
Chr8:48689774 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11027C>A (p.Pro3676His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001889186] Chr8:47785193 [GRCh38]
Chr8:48697754 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000530242]|not provided [RCV001573478] Chr8:47852742 [GRCh38]
Chr8:48765303 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.1338C>A (p.Phe446Leu) single nucleotide variant Inborn genetic diseases [RCV002384248]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000548561] Chr8:47935841 [GRCh38]
Chr8:48848401 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.8857A>T (p.Thr2953Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000549280]|not provided [RCV001755901] Chr8:47823923 [GRCh38]
Chr8:48736484 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000546330]|not provided [RCV003431114] Chr8:47858540 [GRCh38]
Chr8:48771101 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.11754C>T (p.Leu3918=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000549775] Chr8:47778558 [GRCh38]
Chr8:48691119 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1114-1G>A single nucleotide variant not provided [RCV000522809] Chr8:47936518 [GRCh38]
Chr8:48849078 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5750+7T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000554120] Chr8:47863392 [GRCh38]
Chr8:48775953 [GRCh37]
Chr8:8q11.21
likely benign
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21
pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21
pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.6(PRKDC):c.3477T>G (p.Pro1159=) single nucleotide variant Malignant melanoma [RCV000068329] Chr8:47897282 [GRCh38]
Chr8:48809842 [GRCh37]
Chr8:48972395 [NCBI36]
Chr8:8q11.21
not provided
NM_006904.7(PRKDC):c.5532G>A (p.Val1844=) single nucleotide variant Inborn genetic diseases [RCV002351842] Chr8:47864595 [GRCh38]
Chr8:48777156 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000662054] Chr8:47852726 [GRCh38]
Chr8:48765287 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6280A>G (p.Met2094Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001367713] Chr8:47858914 [GRCh38]
Chr8:48771475 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9865C>T (p.Arg3289Trp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001367719] Chr8:47803363 [GRCh38]
Chr8:48715924 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2500C>A (p.Leu834Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001348115] Chr8:47918303 [GRCh38]
Chr8:48830863 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_006904.7(PRKDC):c.9227C>T (p.Ala3076Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001312647] Chr8:47820828 [GRCh38]
Chr8:48733389 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11590C>T (p.Arg3864Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001302762] Chr8:47778789 [GRCh38]
Chr8:48691350 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6346-105A>G single nucleotide variant not provided [RCV001545352]|not specified [RCV003487474] Chr8:47858740 [GRCh38]
Chr8:48771301 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg) single nucleotide variant Immunodeficiency 26 without neurologic abnormalities [RCV000142389]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002514770] Chr8:47820870 [GRCh38]
Chr8:48733431 [GRCh37]
Chr8:8q11.21
pathogenic
NM_006904.7(PRKDC):c.10721C>T (p.Ala3574Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000142390] Chr8:47789188 [GRCh38]
Chr8:48701749 [GRCh37]
Chr8:8q11.21
pathogenic
NM_006904.7(PRKDC):c.1777-710dup duplication PRKDC-related condition [RCV003917434]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000142391] Chr8:47931496..47931497 [GRCh38]
Chr8:48844056..48844057 [GRCh37]
Chr8:8q11.21
pathogenic|likely benign
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.21(chr8:47831768-48178799)x1 copy number loss See cases [RCV000139892] Chr8:47831768..48178799 [GRCh38]
Chr8:48744329..49091359 [GRCh37]
Chr8:48906882..49253912 [NCBI36]
Chr8:8q11.21
uncertain significance
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8q11.21(chr8:47701537-47918282)x3 copy number gain See cases [RCV000140641] Chr8:47701537..47918282 [GRCh38]
Chr8:48614099..48830842 [GRCh37]
Chr8:48776652..48993395 [NCBI36]
Chr8:8q11.21
uncertain significance
GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3 copy number gain See cases [RCV000141920] Chr8:47338394..52753188 [GRCh38]
Chr8:48250960..53665748 [GRCh37]
Chr8:48413513..53828301 [NCBI36]
Chr8:8q11.21-11.23
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.7405T>C (p.Cys2469Arg) single nucleotide variant PRKDC-related condition [RCV003962597]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000545146] Chr8:47840065 [GRCh38]
Chr8:48752626 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2220C>T (p.Ile740=) single nucleotide variant Inborn genetic diseases [RCV002420521]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000545682] Chr8:47927810 [GRCh38]
Chr8:48840370 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3042+18C>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001522940]|not specified [RCV000604680] Chr8:47904851 [GRCh38]
Chr8:48817411 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.4776+144C>T single nucleotide variant not provided [RCV001564056] Chr8:47885800 [GRCh38]
Chr8:48798361 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5253A>G (p.Glu1751=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000528632] Chr8:47877834 [GRCh38]
Chr8:48790395 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9337-24dup duplication not provided [RCV001571232] Chr8:47819513..47819514 [GRCh38]
Chr8:48732074..48732075 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3744C>T (p.Phe1248=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001477285]|not provided [RCV000276672] Chr8:47893242 [GRCh38]
Chr8:48805803 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.5559C>T (p.Ser1853=) single nucleotide variant not provided [RCV000324894] Chr8:47864568 [GRCh38]
Chr8:48777129 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1028A>G (p.Glu343Gly) single nucleotide variant Inborn genetic diseases [RCV003311021] Chr8:47939636 [GRCh38]
Chr8:48852196 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4951A>G (p.Lys1651Glu) single nucleotide variant Inborn genetic diseases [RCV003311035] Chr8:47881923 [GRCh38]
Chr8:48794484 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1121A>T (p.Lys374Met) single nucleotide variant Inborn genetic diseases [RCV003311041] Chr8:47936510 [GRCh38]
Chr8:48849070 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2246T>C (p.Val749Ala) single nucleotide variant Inborn genetic diseases [RCV003311042] Chr8:47927784 [GRCh38]
Chr8:48840344 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2100G>A (p.Lys700=) single nucleotide variant Inborn genetic diseases [RCV003311045] Chr8:47929131 [GRCh38]
Chr8:48841691 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5613G>A (p.Met1871Ile) single nucleotide variant Inborn genetic diseases [RCV003311047] Chr8:47863536 [GRCh38]
Chr8:48776097 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.37C>A (p.Leu13Met) single nucleotide variant Inborn genetic diseases [RCV003311048] Chr8:47960090 [GRCh38]
Chr8:48872650 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12183-93G>C single nucleotide variant not provided [RCV001547224] Chr8:47774470 [GRCh38]
Chr8:48687031 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000530591]|not specified [RCV000602832] Chr8:47930750 [GRCh38]
Chr8:48843310 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5252A>C (p.Glu1751Ala) single nucleotide variant Inborn genetic diseases [RCV003311002] Chr8:47877835 [GRCh38]
Chr8:48790396 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.394A>G (p.Ile132Val) single nucleotide variant Inborn genetic diseases [RCV003311013] Chr8:47955879 [GRCh38]
Chr8:48868439 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.793T>G (p.Tyr265Asp) single nucleotide variant Inborn genetic diseases [RCV003311014] Chr8:47943868 [GRCh38]
Chr8:48856428 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2785G>A (p.Ala929Thr) single nucleotide variant Inborn genetic diseases [RCV003311040] Chr8:47912559 [GRCh38]
Chr8:48825119 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1277C>G (p.Thr426Arg) single nucleotide variant Inborn genetic diseases [RCV003311046] Chr8:47936354 [GRCh38]
Chr8:48848914 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2408C>T (p.Ser803Leu) single nucleotide variant Inborn genetic diseases [RCV003311049] Chr8:47927205 [GRCh38]
Chr8:48839765 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10774G>T (p.Val3592Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001868037]|not specified [RCV000604868] Chr8:47789034 [GRCh38]
Chr8:48701595 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.7833C>T (p.Ala2611=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001086416]|not provided [RCV000591742] Chr8:47836456 [GRCh38]
Chr8:48749017 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.5711G>A (p.Cys1904Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000806214] Chr8:47863438 [GRCh38]
Chr8:48775999 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10013C>T (p.Ala3338Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064882] Chr8:47800896 [GRCh38]
Chr8:48713457 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) single nucleotide variant Inborn genetic diseases [RCV002325090]|PRKDC-related condition [RCV003952867]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000559635]|not provided [RCV001702806] Chr8:47900422 [GRCh38]
Chr8:48812982 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp) single nucleotide variant Malignant tumor of breast [RCV001269484]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000537686]|not specified [RCV000609326] Chr8:47817561 [GRCh38]
Chr8:48730122 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.7750T>C (p.Cys2584Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000560215] Chr8:47837223 [GRCh38]
Chr8:48749784 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.21(chr8:48587984-48780185)x1 copy number loss See cases [RCV000449313] Chr8:48587984..48780185 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801)x3 copy number gain See cases [RCV000447547] Chr8:46912309..50818801 [GRCh37]
Chr8:8q11.1-11.21
uncertain significance
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000526739]|not provided [RCV001796039]|not specified [RCV000423803] Chr8:47939665 [GRCh38]
Chr8:48852225 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.5571+5C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000703564]|not provided [RCV001703555] Chr8:47864551 [GRCh38]
Chr8:48777112 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000548341]|not provided [RCV001703568]|not specified [RCV000445133] Chr8:47807283 [GRCh38]
Chr8:48719844 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000552167]|not specified [RCV000434602] Chr8:47960111 [GRCh38]
Chr8:48872671 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1623+6A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001518421]|not provided [RCV001824760]|not specified [RCV000434781] Chr8:47933959 [GRCh38]
Chr8:48846519 [GRCh37]
Chr8:8q11.21
benign|not provided
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001521104]|not specified [RCV000434971] Chr8:47798394 [GRCh38]
Chr8:48710955 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000530810]|not specified [RCV000442161] Chr8:47929148 [GRCh38]
Chr8:48841708 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) single nucleotide variant PRKDC-related condition [RCV003902496]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001000257]|not provided [RCV001706626]|not specified [RCV000424684] Chr8:47887684 [GRCh38]
Chr8:48800245 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.8578-18G>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001515650]|not specified [RCV000424788] Chr8:47826879 [GRCh38]
Chr8:48739440 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3848-14A>T single nucleotide variant not specified [RCV000432159] Chr8:47890494 [GRCh38]
Chr8:48803055 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.6(PRKDC):c.-29G>A single nucleotide variant not specified [RCV000435990] Chr8:47960155 [GRCh38]
Chr8:48872715 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001079575]|not provided [RCV000425835]|not specified [RCV000608883] Chr8:47798319 [GRCh38]
Chr8:48710880 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001082081]|not provided [RCV000426828] Chr8:47929865 [GRCh38]
Chr8:48842425 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.10759-11T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002058957]|not specified [RCV000425578] Chr8:47789060 [GRCh38]
Chr8:48701621 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000882339]|not specified [RCV000425668] Chr8:47889157 [GRCh38]
Chr8:48801718 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000558116]|not specified [RCV000432764] Chr8:47799296 [GRCh38]
Chr8:48711857 [GRCh37]
Chr8:8q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000527389]|not provided [RCV003430985]|not specified [RCV000443361] Chr8:47820910 [GRCh38]
Chr8:48733471 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.9557+8G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000884825]|not specified [RCV000443384] Chr8:47817442 [GRCh38]
Chr8:48730003 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000534345]|not specified [RCV000422490] Chr8:47826744 [GRCh38]
Chr8:48739305 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000544776]|not specified [RCV000432855] Chr8:47902626 [GRCh38]
Chr8:48815186 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7114C>T (p.Pro2372Ser) single nucleotide variant not provided [RCV000422590] Chr8:47849395 [GRCh38]
Chr8:48761956 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2934+5G>C single nucleotide variant PRKDC-related condition [RCV003972586]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000530165]|not specified [RCV000433078] Chr8:47912405 [GRCh38]
Chr8:48824965 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.42G>A (p.Arg14=) single nucleotide variant Inborn genetic diseases [RCV002328984]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000949740]|not provided [RCV001702778]|not specified [RCV000433185] Chr8:47960085 [GRCh38]
Chr8:48872645 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4809G>T (p.Gln1603His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000525089]|not specified [RCV000440266] Chr8:47882065 [GRCh38]
Chr8:48794626 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3462G>A (p.Pro1154=) single nucleotide variant Inborn genetic diseases [RCV002450999]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002062704]|not specified [RCV000422741] Chr8:47898472 [GRCh38]
Chr8:48811032 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000543026]|not specified [RCV000433233] Chr8:47893227 [GRCh38]
Chr8:48805788 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) single nucleotide variant PRKDC-related condition [RCV003922727]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001083304]|not provided [RCV000788153] Chr8:47893277 [GRCh38]
Chr8:48805837 [GRCh37]
Chr8:8q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.6480C>T (p.Tyr2160=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000552080]|not provided [RCV003422395]|not specified [RCV000437032] Chr8:47857285 [GRCh38]
Chr8:48769846 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000551744]|not provided [RCV001712213] Chr8:47794334 [GRCh38]
Chr8:48706895 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.9922+13C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001518586]|not specified [RCV000444198] Chr8:47803293 [GRCh38]
Chr8:48715854 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.11967G>A (p.Arg3989=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003748229]|not specified [RCV000437224] Chr8:47777761 [GRCh38]
Chr8:48690322 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000525306]|not specified [RCV000423384] Chr8:47879638 [GRCh38]
Chr8:48792199 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000528197]|not provided [RCV001532143]|not specified [RCV000434056] Chr8:47778507 [GRCh38]
Chr8:48691068 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.3256T>C (p.Tyr1086His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001851238]|not provided [RCV000480126] Chr8:47902582 [GRCh38]
Chr8:48815142 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11713G>T (p.Ala3905Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652350]|not provided [RCV000486298] Chr8:47778599 [GRCh38]
Chr8:48691160 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.6067T>C (p.Ser2023Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000532280] Chr8:47859751 [GRCh38]
Chr8:48772312 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.8819G>A (p.Arg2940His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001360540]|not provided [RCV000493879] Chr8:47823961 [GRCh38]
Chr8:48736522 [GRCh37]
Chr8:8q11.21
likely pathogenic|uncertain significance
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000557472]|not provided [RCV001613335] Chr8:47789225 [GRCh38]
Chr8:48701786 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) single nucleotide variant PRKDC-related condition [RCV003915347]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001000256]|not provided [RCV000492829] Chr8:47879606 [GRCh38]
Chr8:48792167 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000685076]|not provided [RCV003456407]|not specified [RCV000507408] Chr8:47849230 [GRCh38]
Chr8:48761791 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) single nucleotide variant Inborn genetic diseases [RCV002413631]|PRKDC-related condition [RCV003935532]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001082135]|not provided [RCV000839324] Chr8:47929994 [GRCh38]
Chr8:48842554 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.8229T>C (p.Tyr2743=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000544201] Chr8:47831850 [GRCh38]
Chr8:48744411 [GRCh37]
Chr8:8q11.21
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.1640A>G (p.Asp547Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000542118] Chr8:47933156 [GRCh38]
Chr8:48845716 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8004C>T (p.Val2668=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000534138]|not provided [RCV003431115] Chr8:47834344 [GRCh38]
Chr8:48746905 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4867C>A (p.Leu1623Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000535121] Chr8:47882007 [GRCh38]
Chr8:48794568 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11048G>A (p.Cys3683Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000535728] Chr8:47785172 [GRCh38]
Chr8:48697733 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2674C>T (p.Leu892=) single nucleotide variant Inborn genetic diseases [RCV003296246] Chr8:47914008 [GRCh38]
Chr8:48826568 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4801T>C (p.Leu1601=) single nucleotide variant Inborn genetic diseases [RCV003296247] Chr8:47882073 [GRCh38]
Chr8:48794634 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.235C>T (p.Arg79Cys) single nucleotide variant Inborn genetic diseases [RCV003296248] Chr8:47957260 [GRCh38]
Chr8:48869820 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2808C>G (p.Ser936Arg) single nucleotide variant Inborn genetic diseases [RCV003296249] Chr8:47912536 [GRCh38]
Chr8:48825096 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2037A>G (p.Lys679=) single nucleotide variant Inborn genetic diseases [RCV003296255] Chr8:47929868 [GRCh38]
Chr8:48842428 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1209T>C (p.Gly403=) single nucleotide variant Inborn genetic diseases [RCV003296258] Chr8:47936422 [GRCh38]
Chr8:48848982 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3194G>A (p.Ser1065Asn) single nucleotide variant Inborn genetic diseases [RCV003296261] Chr8:47902644 [GRCh38]
Chr8:48815204 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8163C>G (p.Gly2721=) single nucleotide variant Inborn genetic diseases [RCV003296264] Chr8:47831916 [GRCh38]
Chr8:48744477 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2606A>G (p.Asn869Ser) single nucleotide variant Inborn genetic diseases [RCV003296265] Chr8:47915339 [GRCh38]
Chr8:48827899 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8484A>G (p.Glu2828=) single nucleotide variant Inborn genetic diseases [RCV003296993] Chr8:47828261 [GRCh38]
Chr8:48740822 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8720C>T (p.Ala2907Val) single nucleotide variant Inborn genetic diseases [RCV003296999] Chr8:47826719 [GRCh38]
Chr8:48739280 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7506A>G (p.Ala2502=) single nucleotide variant Inborn genetic diseases [RCV003297000] Chr8:47839195 [GRCh38]
Chr8:48751756 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1576G>T (p.Asp526Tyr) single nucleotide variant Inborn genetic diseases [RCV003297001] Chr8:47934012 [GRCh38]
Chr8:48846572 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3240T>G (p.Leu1080=) single nucleotide variant Inborn genetic diseases [RCV003297007] Chr8:47902598 [GRCh38]
Chr8:48815158 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5572-4G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000768056] Chr8:47863581 [GRCh38]
Chr8:48776142 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.594C>T (p.Arg198=) single nucleotide variant Inborn genetic diseases [RCV002358718]|PRKDC-related condition [RCV003980168]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001412732]|not specified [RCV000606729] Chr8:47953834 [GRCh38]
Chr8:48866394 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11978C>T (p.Ser3993Leu) single nucleotide variant not provided [RCV000594209] Chr8:47777750 [GRCh38]
Chr8:48690311 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3677G>T (p.Gly1226Val) single nucleotide variant Inborn genetic diseases [RCV003305789] Chr8:47893309 [GRCh38]
Chr8:48805869 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2122G>A (p.Val708Met) single nucleotide variant Inborn genetic diseases [RCV003305794] Chr8:47929109 [GRCh38]
Chr8:48841669 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8814C>T (p.Val2938=) single nucleotide variant Inborn genetic diseases [RCV003305795] Chr8:47823966 [GRCh38]
Chr8:48736527 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2635A>T (p.Met879Leu) single nucleotide variant Inborn genetic diseases [RCV003305796] Chr8:47914047 [GRCh38]
Chr8:48826607 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2637G>T (p.Met879Ile) single nucleotide variant Inborn genetic diseases [RCV003305797] Chr8:47914045 [GRCh38]
Chr8:48826605 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.282A>G (p.Glu94=) single nucleotide variant Inborn genetic diseases [RCV003305798] Chr8:47957213 [GRCh38]
Chr8:48869773 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8319A>G (p.Arg2773=) single nucleotide variant Inborn genetic diseases [RCV003305799] Chr8:47830683 [GRCh38]
Chr8:48743244 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12C>T (p.Ser4=) single nucleotide variant Inborn genetic diseases [RCV003305800]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003586401] Chr8:47960115 [GRCh38]
Chr8:48872675 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12066A>G (p.Lys4022=) single nucleotide variant Inborn genetic diseases [RCV003305801] Chr8:47776960 [GRCh38]
Chr8:48689521 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4850A>G (p.Lys1617Arg) single nucleotide variant Inborn genetic diseases [RCV003305803] Chr8:47882024 [GRCh38]
Chr8:48794585 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7014G>A (p.Glu2338=) single nucleotide variant Inborn genetic diseases [RCV003305804] Chr8:47849495 [GRCh38]
Chr8:48762056 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1209T>A (p.Gly403=) single nucleotide variant Inborn genetic diseases [RCV003305805] Chr8:47936422 [GRCh38]
Chr8:48848982 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3155G>C (p.Ser1052Thr) single nucleotide variant Inborn genetic diseases [RCV003305806] Chr8:47902683 [GRCh38]
Chr8:48815243 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.816G>T (p.Leu272Phe) single nucleotide variant Inborn genetic diseases [RCV003305807] Chr8:47943359 [GRCh38]
Chr8:48855919 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.147G>C (p.Ala49=) single nucleotide variant Inborn genetic diseases [RCV003305826]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003748476] Chr8:47959980 [GRCh38]
Chr8:48872540 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2140-13_2140-11del microsatellite Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001513037]|not specified [RCV000602265] Chr8:47927901..47927903 [GRCh38]
Chr8:48840461..48840463 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.4014G>A (p.Val1338=) single nucleotide variant Inborn genetic diseases [RCV002358723]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002064224]|not specified [RCV000602550] Chr8:47890314 [GRCh38]
Chr8:48802875 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12064A>C (p.Lys4022Gln) single nucleotide variant Inborn genetic diseases [RCV003296995] Chr8:47776962 [GRCh38]
Chr8:48689523 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5015T>G (p.Phe1672Cys) single nucleotide variant Inborn genetic diseases [RCV003297005] Chr8:47881468 [GRCh38]
Chr8:48794029 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1294A>G (p.Thr432Ala) single nucleotide variant Inborn genetic diseases [RCV003297006] Chr8:47935885 [GRCh38]
Chr8:48848445 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652383]|not provided [RCV003424175]|not specified [RCV000609499] Chr8:47800976 [GRCh38]
Chr8:48713537 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652385]|not provided [RCV001722590] Chr8:47820838 [GRCh38]
Chr8:48733399 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.1337T>A (p.Phe446Tyr) single nucleotide variant Inborn genetic diseases [RCV002525318]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000538205] Chr8:47935842 [GRCh38]
Chr8:48848402 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2629G>C (p.Asp877His) single nucleotide variant Inborn genetic diseases [RCV003159930]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000560775] Chr8:47914053 [GRCh38]
Chr8:48826613 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9923-17dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001513036]|not specified [RCV000610559] Chr8:47800996..47800997 [GRCh38]
Chr8:48713557..48713558 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.2947C>T (p.Leu983=) single nucleotide variant Inborn genetic diseases [RCV003296243] Chr8:47904964 [GRCh38]
Chr8:48817524 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3677G>C (p.Gly1226Ala) single nucleotide variant Inborn genetic diseases [RCV003296244] Chr8:47893309 [GRCh38]
Chr8:48805869 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2924A>T (p.Asp975Val) single nucleotide variant Inborn genetic diseases [RCV003296245] Chr8:47912420 [GRCh38]
Chr8:48824980 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9464T>C (p.Val3155Ala) single nucleotide variant Inborn genetic diseases [RCV003296251] Chr8:47817543 [GRCh38]
Chr8:48730104 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7161A>C (p.Pro2387=) single nucleotide variant Inborn genetic diseases [RCV003296252] Chr8:47849273 [GRCh38]
Chr8:48761834 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1761T>G (p.Thr587=) single nucleotide variant Inborn genetic diseases [RCV003296262] Chr8:47933035 [GRCh38]
Chr8:48845595 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3435A>G (p.Leu1145=) single nucleotide variant Inborn genetic diseases [RCV003296266] Chr8:47898499 [GRCh38]
Chr8:48811059 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4375C>T (p.His1459Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000557566]|not provided [RCV003457723] Chr8:47888556 [GRCh38]
Chr8:48801117 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5466C>T (p.Arg1822=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001506651] Chr8:47864661 [GRCh38]
Chr8:48777222 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6268C>T (p.Arg2090Trp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652346] Chr8:47858926 [GRCh38]
Chr8:48771487 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3101G>A (p.Arg1034Gln) single nucleotide variant Inborn genetic diseases [RCV002325310]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652347] Chr8:47902737 [GRCh38]
Chr8:48815297 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu) single nucleotide variant Inborn genetic diseases [RCV003163002]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652348]|not provided [RCV001766417] Chr8:47930702 [GRCh38]
Chr8:48843262 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12292C>A (p.Leu4098Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652352] Chr8:47774268 [GRCh38]
Chr8:48686829 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2112T>A (p.Phe704Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652353] Chr8:47929119 [GRCh38]
Chr8:48841679 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4630G>A (p.Gly1544Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652354] Chr8:47886090 [GRCh38]
Chr8:48798651 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4159G>A (p.Gly1387Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652355] Chr8:47889135 [GRCh38]
Chr8:48801696 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11222G>T (p.Arg3741Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652356] Chr8:47782552 [GRCh38]
Chr8:48695113 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4178C>A (p.Ala1393Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652357] Chr8:47889116 [GRCh38]
Chr8:48801677 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4271C>T (p.Thr1424Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652358] Chr8:47889023 [GRCh38]
Chr8:48801584 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4774A>G (p.Met1592Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652359] Chr8:47885946 [GRCh38]
Chr8:48798507 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4059G>A (p.Pro1353=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652360] Chr8:47890269 [GRCh38]
Chr8:48802830 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9783G>T (p.Glu3261Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652361] Chr8:47803445 [GRCh38]
Chr8:48716006 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5845A>G (p.Ile1949Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652362] Chr8:47862447 [GRCh38]
Chr8:48775008 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.37C>G (p.Leu13Val) single nucleotide variant Inborn genetic diseases [RCV002360658]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652363] Chr8:47960090 [GRCh38]
Chr8:48872650 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652364] Chr8:47852777 [GRCh38]
Chr8:48765338 [GRCh37]
Chr8:8q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_006904.7(PRKDC):c.10322C>T (p.Ala3441Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652365]|not provided [RCV003442002] Chr8:47798373 [GRCh38]
Chr8:48710934 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9557+4A>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652366] Chr8:47817446 [GRCh38]
Chr8:48730007 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.4413+7A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652367] Chr8:47888511 [GRCh38]
Chr8:48801072 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652368]|not provided [RCV000788250] Chr8:47890319 [GRCh38]
Chr8:48802880 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.7331C>T (p.Pro2444Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652369] Chr8:47840139 [GRCh38]
Chr8:48752700 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1535G>T (p.Gly512Val) single nucleotide variant Inborn genetic diseases [RCV002397313]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652370] Chr8:47934053 [GRCh38]
Chr8:48846613 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1676G>C (p.Ser559Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652371] Chr8:47933120 [GRCh38]
Chr8:48845680 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11490-1G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652372] Chr8:47779094 [GRCh38]
Chr8:48691655 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6466-9C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652373] Chr8:47857308 [GRCh38]
Chr8:48769869 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.7010T>C (p.Leu2337Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652351] Chr8:47849499 [GRCh38]
Chr8:48762060 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9810C>T (p.Asp3270=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001409502] Chr8:47803418 [GRCh38]
Chr8:48715979 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12216T>A (p.Pro4072=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652375] Chr8:47774344 [GRCh38]
Chr8:48686905 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9693C>A (p.Ile3231=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652376] Chr8:47807191 [GRCh38]
Chr8:48719752 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8685G>A (p.Glu2895=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652377] Chr8:47826754 [GRCh38]
Chr8:48739315 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.10750C>T (p.Leu3584Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652378] Chr8:47789159 [GRCh38]
Chr8:48701720 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.9030A>T (p.Ser3010=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652379] Chr8:47821685 [GRCh38]
Chr8:48734246 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.871G>A (p.Val291Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652381] Chr8:47943304 [GRCh38]
Chr8:48855864 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.967-10G>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652382] Chr8:47939707 [GRCh38]
Chr8:48852267 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1818A>G (p.Ser606=) single nucleotide variant Inborn genetic diseases [RCV002406471]|PRKDC-related condition [RCV003937983]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652384] Chr8:47930746 [GRCh38]
Chr8:48843306 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2757C>G (p.Leu919=) single nucleotide variant Inborn genetic diseases [RCV003310990] Chr8:47913925 [GRCh38]
Chr8:48826485 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.813C>T (p.Gly271=) single nucleotide variant Inborn genetic diseases [RCV003310992] Chr8:47943362 [GRCh38]
Chr8:48855922 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7221A>G (p.Gly2407=) single nucleotide variant Inborn genetic diseases [RCV003310999] Chr8:47849213 [GRCh38]
Chr8:48761774 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2882T>A (p.Leu961His) single nucleotide variant Inborn genetic diseases [RCV003311010] Chr8:47912462 [GRCh38]
Chr8:48825022 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2554A>C (p.Arg852=) single nucleotide variant Inborn genetic diseases [RCV003311022] Chr8:47915391 [GRCh38]
Chr8:48827951 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1285G>C (p.Glu429Gln) single nucleotide variant Inborn genetic diseases [RCV003311025] Chr8:47935894 [GRCh38]
Chr8:48848454 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8745C>A (p.Arg2915=) single nucleotide variant Inborn genetic diseases [RCV003311029] Chr8:47826694 [GRCh38]
Chr8:48739255 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6081C>T (p.Ser2027=) single nucleotide variant Inborn genetic diseases [RCV003311043]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003748482] Chr8:47859737 [GRCh38]
Chr8:48772298 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7647G>A (p.Lys2549=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652386] Chr8:47837326 [GRCh38]
Chr8:48749887 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7761+10T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652387] Chr8:47837202 [GRCh38]
Chr8:48749763 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9558-8T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652388] Chr8:47807334 [GRCh38]
Chr8:48719895 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys) single nucleotide variant Inborn genetic diseases [RCV002331263]|PRKDC-related condition [RCV003945670]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652389] Chr8:47954424 [GRCh38]
Chr8:48866984 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity
NM_006904.7(PRKDC):c.4072-12_4072-9del deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652390] Chr8:47889231..47889234 [GRCh38]
Chr8:48801792..48801795 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652391]|not provided [RCV003432703] Chr8:47776888 [GRCh38]
Chr8:48689449 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.11814C>T (p.Ile3938=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652392] Chr8:47778498 [GRCh38]
Chr8:48691059 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4936C>T (p.Leu1646=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652393] Chr8:47881938 [GRCh38]
Chr8:48794499 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6338_6340del (p.Gly2113del) deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652394] Chr8:47858854..47858856 [GRCh38]
Chr8:48771415..48771417 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.4962+8A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652395] Chr8:47881904 [GRCh38]
Chr8:48794465 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5760C>T (p.Tyr1920=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652396] Chr8:47862532 [GRCh38]
Chr8:48775093 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1896G>A (p.Glu632=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001453774] Chr8:47930009 [GRCh38]
Chr8:48842569 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11379T>C (p.Val3793=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652398] Chr8:47782395 [GRCh38]
Chr8:48694956 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652399]|not provided [RCV003432704] Chr8:47858852 [GRCh38]
Chr8:48771413 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.129C>T (p.Val43=) single nucleotide variant Inborn genetic diseases [RCV002386113]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652400] Chr8:47959998 [GRCh38]
Chr8:48872558 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6348T>C (p.Asp2116=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652401]|not provided [RCV003432705] Chr8:47858633 [GRCh38]
Chr8:48771194 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3222G>A (p.Lys1074=) single nucleotide variant Inborn genetic diseases [RCV002442355]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652380] Chr8:47902616 [GRCh38]
Chr8:48815176 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.3397C>T (p.His1133Tyr) single nucleotide variant Inborn genetic diseases [RCV003310991] Chr8:47898537 [GRCh38]
Chr8:48811097 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.809C>G (p.Ala270Gly) single nucleotide variant Inborn genetic diseases [RCV003310998] Chr8:47943366 [GRCh38]
Chr8:48855926 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3211A>T (p.Asn1071Tyr) single nucleotide variant Inborn genetic diseases [RCV003311001] Chr8:47902627 [GRCh38]
Chr8:48815187 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1288G>T (p.Val430Leu) single nucleotide variant Inborn genetic diseases [RCV003311003] Chr8:47935891 [GRCh38]
Chr8:48848451 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7484C>T (p.Ser2495Phe) single nucleotide variant Inborn genetic diseases [RCV003311009] Chr8:47839217 [GRCh38]
Chr8:48751778 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8892T>G (p.Asp2964Glu) single nucleotide variant Inborn genetic diseases [RCV003311015] Chr8:47823888 [GRCh38]
Chr8:48736449 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.869A>C (p.Tyr290Ser) single nucleotide variant Inborn genetic diseases [RCV003311016] Chr8:47943306 [GRCh38]
Chr8:48855866 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8017C>T (p.Pro2673Ser) single nucleotide variant Inborn genetic diseases [RCV003311019] Chr8:47834331 [GRCh38]
Chr8:48746892 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8491A>T (p.Asn2831Tyr) single nucleotide variant Inborn genetic diseases [RCV003311023] Chr8:47828254 [GRCh38]
Chr8:48740815 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4717A>G (p.Lys1573Glu) single nucleotide variant Inborn genetic diseases [RCV003311024] Chr8:47886003 [GRCh38]
Chr8:48798564 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2334T>G (p.Ile778Met) single nucleotide variant Inborn genetic diseases [RCV003311027] Chr8:47927279 [GRCh38]
Chr8:48839839 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5336A>T (p.Gln1779Leu) single nucleotide variant Inborn genetic diseases [RCV003311032] Chr8:47877751 [GRCh38]
Chr8:48790312 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3286G>A (p.Val1096Met) single nucleotide variant Inborn genetic diseases [RCV003311033] Chr8:47900451 [GRCh38]
Chr8:48813011 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.869A>G (p.Tyr290Cys) single nucleotide variant Inborn genetic diseases [RCV003311036] Chr8:47943306 [GRCh38]
Chr8:48855866 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1586A>C (p.Asp529Ala) single nucleotide variant Inborn genetic diseases [RCV003311044] Chr8:47934002 [GRCh38]
Chr8:48846562 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.107G>A (p.Arg36His) single nucleotide variant Inborn genetic diseases [RCV003310993] Chr8:47960020 [GRCh38]
Chr8:48872580 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4405C>G (p.Pro1469Ala) single nucleotide variant Inborn genetic diseases [RCV003310994] Chr8:47888526 [GRCh38]
Chr8:48801087 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8443G>A (p.Gly2815Arg) single nucleotide variant Inborn genetic diseases [RCV003310996] Chr8:47828302 [GRCh38]
Chr8:48740863 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10882T>G (p.Phe3628Val) single nucleotide variant Inborn genetic diseases [RCV003311007] Chr8:47788926 [GRCh38]
Chr8:48701487 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5911C>G (p.Pro1971Ala) single nucleotide variant Inborn genetic diseases [RCV003311020] Chr8:47862381 [GRCh38]
Chr8:48774942 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.452A>G (p.Glu151Gly) single nucleotide variant Inborn genetic diseases [RCV003311026] Chr8:47954394 [GRCh38]
Chr8:48866954 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2394A>G (p.Gly798=) single nucleotide variant Inborn genetic diseases [RCV003311037] Chr8:47927219 [GRCh38]
Chr8:48839779 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8661C>T (p.Pro2887=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000559009]|not specified [RCV000610762] Chr8:47826778 [GRCh38]
Chr8:48739339 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.1971T>C (p.Ser657=) single nucleotide variant Inborn genetic diseases [RCV002420294]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001445120]|not provided [RCV000512912] Chr8:47929934 [GRCh38]
Chr8:48842494 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000652349]|not provided [RCV000513572] Chr8:47785191 [GRCh38]
Chr8:48697752 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4226C>T (p.Ser1409Phe) single nucleotide variant Inborn genetic diseases [RCV003163088]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000684871] Chr8:47889068 [GRCh38]
Chr8:48801629 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1525C>T (p.Arg509Cys) single nucleotide variant Inborn genetic diseases [RCV002388285]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000698053] Chr8:47934063 [GRCh38]
Chr8:48846623 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6397C>G (p.Leu2133Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000698800] Chr8:47858584 [GRCh38]
Chr8:48771145 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11920A>G (p.Met3974Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000698801] Chr8:47777808 [GRCh38]
Chr8:48690369 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8692C>T (p.Leu2898Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000685246] Chr8:47826747 [GRCh38]
Chr8:48739308 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1526G>A (p.Arg509His) single nucleotide variant Inborn genetic diseases [RCV003163245]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000700101] Chr8:47934062 [GRCh38]
Chr8:48846622 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3 copy number gain not provided [RCV000683033] Chr8:46863521..55218838 [GRCh37]
Chr8:8q11.1-11.23
uncertain significance
GRCh37/hg19 8q11.21(chr8:48609394-48892709)x3 copy number gain not provided [RCV000682964] Chr8:48609394..48892709 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2717T>C (p.Phe906Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000702178] Chr8:47913965 [GRCh38]
Chr8:48826525 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1017G>T (p.Gln339His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000702706] Chr8:47939647 [GRCh38]
Chr8:48852207 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp) single nucleotide variant Inborn genetic diseases [RCV002424675]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000698177]|not provided [RCV000788197] Chr8:47914015 [GRCh38]
Chr8:48826575 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10979A>G (p.Asn3660Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000684921] Chr8:47785241 [GRCh38]
Chr8:48697802 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3368C>T (p.Thr1123Ile) single nucleotide variant Inborn genetic diseases [RCV003344011]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000699941] Chr8:47898566 [GRCh38]
Chr8:48811126 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3698C>T (p.Ser1233Leu) single nucleotide variant Inborn genetic diseases [RCV003163188]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000694768] Chr8:47893288 [GRCh38]
Chr8:48805848 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11806G>A (p.Gly3936Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000704653] Chr8:47778506 [GRCh38]
Chr8:48691067 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.17C>T (p.Ala6Val) single nucleotide variant Inborn genetic diseases [RCV002406583]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000693271] Chr8:47960110 [GRCh38]
Chr8:48872670 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4883A>T (p.Lys1628Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000695102] Chr8:47881991 [GRCh38]
Chr8:48794552 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8061G>T (p.Arg2687Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000702189] Chr8:47834287 [GRCh38]
Chr8:48746848 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000704894]|not provided [RCV002512125]|not specified [RCV003155291] Chr8:47778614 [GRCh38]
Chr8:48691175 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.3574T>C (p.Tyr1192His) single nucleotide variant Inborn genetic diseases [RCV002458308]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000704997] Chr8:47897185 [GRCh38]
Chr8:48809745 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5363+2T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000690886] Chr8:47877722 [GRCh38]
Chr8:48790283 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10178AGG[2] (p.Glu3395del) microsatellite Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000707734] Chr8:47799321..47799323 [GRCh38]
Chr8:48711882..48711884 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5703T>A (p.His1901Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000694075] Chr8:47863446 [GRCh38]
Chr8:48776007 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2245G>A (p.Val749Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000703392] Chr8:47927785 [GRCh38]
Chr8:48840345 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5818T>C (p.Tyr1940His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000706125] Chr8:47862474 [GRCh38]
Chr8:48775035 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9845G>A (p.Arg3282His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000706278] Chr8:47803383 [GRCh38]
Chr8:48715944 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9558A>T (p.Arg3186=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000706559] Chr8:47807326 [GRCh38]
Chr8:48719887 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10700T>A (p.Val3567Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000698843] Chr8:47789209 [GRCh38]
Chr8:48701770 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2801T>C (p.Leu934Ser) single nucleotide variant Inborn genetic diseases [RCV003165873]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000701662] Chr8:47912543 [GRCh38]
Chr8:48825103 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1003A>C (p.Lys335Gln) single nucleotide variant Inborn genetic diseases [RCV003165897]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000703845] Chr8:47939661 [GRCh38]
Chr8:48852221 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4651A>G (p.Ile1551Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000689625] Chr8:47886069 [GRCh38]
Chr8:48798630 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3148_3150del (p.Glu1050del) deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000706623] Chr8:47902688..47902690 [GRCh38]
Chr8:48815248..48815250 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11606C>T (p.Thr3869Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000692758] Chr8:47778773 [GRCh38]
Chr8:48691334 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6215G>A (p.Arg2072Gln) single nucleotide variant Inborn genetic diseases [RCV003163139]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000689987] Chr8:47858979 [GRCh38]
Chr8:48771540 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.2551A>C (p.Ile851Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000704246] Chr8:47915394 [GRCh38]
Chr8:48827954 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2599A>C (p.Asn867His) single nucleotide variant Inborn genetic diseases [RCV002424635]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000692951] Chr8:47915346 [GRCh38]
Chr8:48827906 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2249C>T (p.Pro750Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000690180] Chr8:47927781 [GRCh38]
Chr8:48840341 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11561C>T (p.Ala3854Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000690497] Chr8:47779022 [GRCh38]
Chr8:48691583 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4124C>T (p.Thr1375Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000695503] Chr8:47889170 [GRCh38]
Chr8:48801731 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9071C>T (p.Pro3024Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000704881] Chr8:47821644 [GRCh38]
Chr8:48734205 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8326C>T (p.Arg2776Trp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000695791] Chr8:47830676 [GRCh38]
Chr8:48743237 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000688488] Chr8:47858869 [GRCh38]
Chr8:48771430 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9292A>G (p.Arg3098Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000707722] Chr8:47820763 [GRCh38]
Chr8:48733324 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7997C>T (p.Pro2666Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000696178] Chr8:47834351 [GRCh38]
Chr8:48746912 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2143G>A (p.Ala715Thr) single nucleotide variant Inborn genetic diseases [RCV003303129]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000691676] Chr8:47927887 [GRCh38]
Chr8:48840447 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11288G>A (p.Arg3763His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000700682] Chr8:47782486 [GRCh38]
Chr8:48695047 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.234T>C (p.Phe78=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000703625] Chr8:47957261 [GRCh38]
Chr8:48869821 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7856G>A (p.Arg2619His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000697101] Chr8:47836433 [GRCh38]
Chr8:48748994 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10042C>T (p.Leu3348Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000687083] Chr8:47800867 [GRCh38]
Chr8:48713428 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12049G>C (p.Glu4017Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000687096] Chr8:47776977 [GRCh38]
Chr8:48689538 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.4138G>A (p.Ala1380Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000768057] Chr8:47889156 [GRCh38]
Chr8:48801717 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7786C>T (p.Arg2596Cys) single nucleotide variant not provided [RCV001573089] Chr8:47836503 [GRCh38]
Chr8:48749064 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4578G>T (p.Glu1526Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001889181] Chr8:47886142 [GRCh38]
Chr8:48798703 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4413+98C>T single nucleotide variant not provided [RCV001530662] Chr8:47888420 [GRCh38]
Chr8:48800981 [GRCh37]
Chr8:8q11.21
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.21(chr8:48684355-48890009)x3 copy number gain not provided [RCV000747527] Chr8:48684355..48890009 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7952-10C>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001402470] Chr8:47834406 [GRCh38]
Chr8:48746967 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6346-47A>G single nucleotide variant not provided [RCV001691098] Chr8:47858682 [GRCh38]
Chr8:48771243 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6188C>A (p.Thr2063Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001907896] Chr8:47859630 [GRCh38]
Chr8:48772191 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1448-87A>C single nucleotide variant not provided [RCV001644276] Chr8:47935145 [GRCh38]
Chr8:48847705 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7952-292_7952-290dup duplication not provided [RCV001680390] Chr8:47834685..47834686 [GRCh38]
Chr8:48747246..48747247 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.9966T>G (p.Ala3322=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001435967] Chr8:47800943 [GRCh38]
Chr8:48713504 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7230G>A (p.Glu2410=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001442208] Chr8:47849204 [GRCh38]
Chr8:48761765 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1777-579A>G single nucleotide variant not provided [RCV001566866] Chr8:47931366 [GRCh38]
Chr8:48843926 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.231+9A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000891922] Chr8:47957346 [GRCh38]
Chr8:48869906 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2260-187G>A single nucleotide variant not provided [RCV001569651] Chr8:47927540 [GRCh38]
Chr8:48840100 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8258G>A (p.Arg2753Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001043986] Chr8:47831821 [GRCh38]
Chr8:48744382 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4234A>G (p.Lys1412Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001066618] Chr8:47889060 [GRCh38]
Chr8:48801621 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3885T>G (p.Ala1295=) single nucleotide variant not provided [RCV001584951] Chr8:47890443 [GRCh38]
Chr8:48803004 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9337-4del deletion not provided [RCV001573127] Chr8:47819514 [GRCh38]
Chr8:48732075 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.6059-82T>C single nucleotide variant not provided [RCV001585107] Chr8:47859841 [GRCh38]
Chr8:48772402 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2781+5T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001067022] Chr8:47913896 [GRCh38]
Chr8:48826456 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7459C>T (p.Pro2487Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001045208] Chr8:47839242 [GRCh38]
Chr8:48751803 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4414-299G>A single nucleotide variant not provided [RCV001585376] Chr8:47888004 [GRCh38]
Chr8:48800565 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.154+281dup duplication not provided [RCV001574562] Chr8:47959678..47959679 [GRCh38]
Chr8:48872238..48872239 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12043-242dup duplication not provided [RCV001645281] Chr8:47777212..47777213 [GRCh38]
Chr8:48689773..48689774 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5572-51G>A single nucleotide variant not provided [RCV001666712]|not specified [RCV003487646] Chr8:47863628 [GRCh38]
Chr8:48776189 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.10533C>T (p.Ala3511=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002065483] Chr8:47794427 [GRCh38]
Chr8:48706988 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3941G>T (p.Gly1314Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000884826] Chr8:47890387 [GRCh38]
Chr8:48802948 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6208-4G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001443574] Chr8:47858990 [GRCh38]
Chr8:48771551 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000973697] Chr8:47890430 [GRCh38]
Chr8:48802991 [GRCh37]
Chr8:8q11.21
likely benign|conflicting interpretations of pathogenicity
NM_006904.7(PRKDC):c.7874T>C (p.Leu2625Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000905534] Chr8:47836415 [GRCh38]
Chr8:48748976 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1212C>T (p.Asp404=) single nucleotide variant Inborn genetic diseases [RCV002354735]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000905535] Chr8:47936419 [GRCh38]
Chr8:48848979 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.712A>G (p.Met238Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000973784] Chr8:47953629 [GRCh38]
Chr8:48866189 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2433T>C (p.Asn811=) single nucleotide variant Inborn genetic diseases [RCV002454059]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001501785] Chr8:47918370 [GRCh38]
Chr8:48830930 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.924G>A (p.Leu308=) single nucleotide variant Inborn genetic diseases [RCV002372566]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002541002] Chr8:47943251 [GRCh38]
Chr8:48855811 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9593C>G (p.Thr3198Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000967382] Chr8:47807291 [GRCh38]
Chr8:48719852 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3315G>A (p.Val1105=) single nucleotide variant Inborn genetic diseases [RCV002454111]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000929613] Chr8:47900422 [GRCh38]
Chr8:48812982 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1728T>G (p.Val576=) single nucleotide variant Inborn genetic diseases [RCV002399977]|PRKDC-related condition [RCV003948308]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000880836] Chr8:47933068 [GRCh38]
Chr8:48845628 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.6327C>A (p.Gly2109=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000879028] Chr8:47858867 [GRCh38]
Chr8:48771428 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10362A>G (p.Leu3454=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000924058] Chr8:47798333 [GRCh38]
Chr8:48710894 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1968A>G (p.Gln656=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000883858] Chr8:47929937 [GRCh38]
Chr8:48842497 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3931A>G (p.Lys1311Glu) single nucleotide variant Inborn genetic diseases [RCV002354715]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000884330] Chr8:47890397 [GRCh38]
Chr8:48802958 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.6459A>C (p.Thr2153=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001501065] Chr8:47858522 [GRCh38]
Chr8:48771083 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6621A>G (p.Lys2207=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001398046] Chr8:47855362 [GRCh38]
Chr8:48767923 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6303C>G (p.Val2101=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000981366] Chr8:47858891 [GRCh38]
Chr8:48771452 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) single nucleotide variant Inborn genetic diseases [RCV002399978]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000881888]|not provided [RCV003424439] Chr8:47933053 [GRCh38]
Chr8:48845613 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5550G>T (p.Val1850=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001407371] Chr8:47864577 [GRCh38]
Chr8:48777138 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9804C>G (p.Thr3268=) single nucleotide variant not provided [RCV000982622] Chr8:47803424 [GRCh38]
Chr8:48715985 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5754G>A (p.Leu1918=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001469279] Chr8:47862538 [GRCh38]
Chr8:48775099 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.34C>T (p.Leu12=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001436746] Chr8:47960093 [GRCh38]
Chr8:48872653 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7131-5G>A single nucleotide variant not provided [RCV000880277] Chr8:47849308 [GRCh38]
Chr8:48761869 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6414A>T (p.Val2138=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000927091] Chr8:47858567 [GRCh38]
Chr8:48771128 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5316T>C (p.His1772=) single nucleotide variant not provided [RCV000905822] Chr8:47877771 [GRCh38]
Chr8:48790332 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12375G>A (p.Glu4125=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000937680] Chr8:47774185 [GRCh38]
Chr8:48686746 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1279-4G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001408274] Chr8:47935904 [GRCh38]
Chr8:48848464 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5067+7A>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001466311] Chr8:47881409 [GRCh38]
Chr8:48793970 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10347A>G (p.Lys3449=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001495324] Chr8:47798348 [GRCh38]
Chr8:48710909 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1809C>T (p.Ile603=) single nucleotide variant Inborn genetic diseases [RCV002409187]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000924667] Chr8:47930755 [GRCh38]
Chr8:48843315 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000904095] Chr8:47785144 [GRCh38]
Chr8:48697705 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3787G>A (p.Ala1263Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001058080] Chr8:47893199 [GRCh38]
Chr8:48805760 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6314A>G (p.His2105Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001051134] Chr8:47858880 [GRCh38]
Chr8:48771441 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.155-4A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001052886] Chr8:47957435 [GRCh38]
Chr8:48869995 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3833C>T (p.Ala1278Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001037140] Chr8:47893153 [GRCh38]
Chr8:48805714 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4856C>T (p.Ala1619Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001052943] Chr8:47882018 [GRCh38]
Chr8:48794579 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4397A>G (p.Asn1466Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001053035] Chr8:47888534 [GRCh38]
Chr8:48801095 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2899C>A (p.Pro967Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038903] Chr8:47912445 [GRCh38]
Chr8:48825005 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5428C>T (p.Pro1810Ser) single nucleotide variant Inborn genetic diseases [RCV002348417]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001056348] Chr8:47864699 [GRCh38]
Chr8:48777260 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.991G>A (p.Ala331Thr) single nucleotide variant Inborn genetic diseases [RCV003160500]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001062055] Chr8:47939673 [GRCh38]
Chr8:48852233 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7465A>G (p.Ser2489Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001062081] Chr8:47839236 [GRCh38]
Chr8:48751797 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8882C>A (p.Ala2961Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001059195] Chr8:47823898 [GRCh38]
Chr8:48736459 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4619C>T (p.Thr1540Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001049906] Chr8:47886101 [GRCh38]
Chr8:48798662 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8153G>A (p.Gly2718Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001057449] Chr8:47831926 [GRCh38]
Chr8:48744487 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5463C>G (p.Asp1821Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001048852] Chr8:47864664 [GRCh38]
Chr8:48777225 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1258G>A (p.Val420Ile) single nucleotide variant Inborn genetic diseases [RCV003160244]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038609] Chr8:47936373 [GRCh38]
Chr8:48848933 [GRCh37]
Chr8:8q11.21
uncertain significance
NC_000008.10:g.(?_48270390)_(49987806_?)del deletion not provided [RCV000819887] Chr8:48270390..49987806 [GRCh37]
Chr8:8q11.21
pathogenic
NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002536898]|not provided [RCV000788246] Chr8:47877818 [GRCh38]
Chr8:48790379 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3668C>T (p.Thr1223Ile) single nucleotide variant Inborn genetic diseases [RCV002453806]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000806236] Chr8:47893318 [GRCh38]
Chr8:48805878 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10014G>A (p.Ala3338=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000925007] Chr8:47800895 [GRCh38]
Chr8:48713456 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.57G>A (p.Leu19=) single nucleotide variant Inborn genetic diseases [RCV002354880]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001424855] Chr8:47960070 [GRCh38]
Chr8:48872630 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2760A>G (p.Thr920=) single nucleotide variant Inborn genetic diseases [RCV002434215]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001503726] Chr8:47913922 [GRCh38]
Chr8:48826482 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3270-12dup duplication not provided [RCV000947109] Chr8:47900476..47900477 [GRCh38]
Chr8:48813036..48813037 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4626C>T (p.Ser1542=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001496698] Chr8:47886094 [GRCh38]
Chr8:48798655 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.155-13dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001510172] Chr8:47957437..47957438 [GRCh38]
Chr8:48869997..48869998 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=) single nucleotide variant Inborn genetic diseases [RCV002400150]|PRKDC-related condition [RCV003972980]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000980762] Chr8:47934007 [GRCh38]
Chr8:48846567 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11844C>T (p.Ser3948=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001505463] Chr8:47778468 [GRCh38]
Chr8:48691029 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1443T>C (p.Thr481=) single nucleotide variant Inborn genetic diseases [RCV002390909]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001505002] Chr8:47935736 [GRCh38]
Chr8:48848296 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10323G>A (p.Ala3441=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002550550] Chr8:47798372 [GRCh38]
Chr8:48710933 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6072T>C (p.Tyr2024=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000921411] Chr8:47859746 [GRCh38]
Chr8:48772307 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11507C>T (p.Pro3836Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000966447] Chr8:47779076 [GRCh38]
Chr8:48691637 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.8388C>T (p.Ala2796=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001417080] Chr8:47830614 [GRCh38]
Chr8:48743175 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000884266]|not provided [RCV003222164] Chr8:47783799 [GRCh38]
Chr8:48696360 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4321G>A (p.Ala1441Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000884268] Chr8:47888610 [GRCh38]
Chr8:48801171 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.9337-6_9337-4del deletion not provided [RCV000894190] Chr8:47819514..47819516 [GRCh38]
Chr8:48732075..48732077 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000966469]|not provided [RCV003432971] Chr8:47863440 [GRCh38]
Chr8:48776001 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9337-4_9337-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV000967847] Chr8:47819513..47819514 [GRCh38]
Chr8:48732074..48732075 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.508+9C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000978965] Chr8:47954329 [GRCh38]
Chr8:48866889 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8178A>G (p.Leu2726=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000942462] Chr8:47831901 [GRCh38]
Chr8:48744462 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7484C>G (p.Ser2495Cys) single nucleotide variant Inborn genetic diseases [RCV003311005] Chr8:47839217 [GRCh38]
Chr8:48751778 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4264A>G (p.Lys1422Glu) single nucleotide variant Inborn genetic diseases [RCV003311008] Chr8:47889030 [GRCh38]
Chr8:48801591 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10278G>A (p.Lys3426=) single nucleotide variant Inborn genetic diseases [RCV003311011] Chr8:47799229 [GRCh38]
Chr8:48711790 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2234T>A (p.Val745Asp) single nucleotide variant Inborn genetic diseases [RCV003311012] Chr8:47927796 [GRCh38]
Chr8:48840356 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4641G>A (p.Gln1547=) single nucleotide variant Inborn genetic diseases [RCV003311031] Chr8:47886079 [GRCh38]
Chr8:48798640 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1827G>C (p.Ala609=) single nucleotide variant Inborn genetic diseases [RCV003310997] Chr8:47930737 [GRCh38]
Chr8:48843297 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10665G>A (p.Val3555=) single nucleotide variant Inborn genetic diseases [RCV003311000] Chr8:47794295 [GRCh38]
Chr8:48706856 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2650G>T (p.Val884Leu) single nucleotide variant Inborn genetic diseases [RCV003311004] Chr8:47914032 [GRCh38]
Chr8:48826592 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.17C>G (p.Ala6Gly) single nucleotide variant Inborn genetic diseases [RCV003311030] Chr8:47960110 [GRCh38]
Chr8:48872670 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.633A>G (p.Ala211=) single nucleotide variant Inborn genetic diseases [RCV003311034] Chr8:47953708 [GRCh38]
Chr8:48866268 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8127G>T (p.Gly2709=) single nucleotide variant Inborn genetic diseases [RCV003311038] Chr8:47834221 [GRCh38]
Chr8:48746782 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.595G>A (p.Ala199Thr) single nucleotide variant Inborn genetic diseases [RCV003248730] Chr8:47953833 [GRCh38]
Chr8:48866393 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7455-6A>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000815626] Chr8:47839252 [GRCh38]
Chr8:48751813 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4762G>A (p.Asp1588Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799207] Chr8:47885958 [GRCh38]
Chr8:48798519 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11583C>T (p.Gly3861=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000960471] Chr8:47778796 [GRCh38]
Chr8:48691357 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1133C>T (p.Ala378Val) single nucleotide variant Inborn genetic diseases [RCV002442725]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000813876] Chr8:47936498 [GRCh38]
Chr8:48849058 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3820A>G (p.Arg1274Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000802700] Chr8:47893166 [GRCh38]
Chr8:48805727 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1645G>A (p.Ala549Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000819159] Chr8:47933151 [GRCh38]
Chr8:48845711 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11512G>C (p.Glu3838Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000797074] Chr8:47779071 [GRCh38]
Chr8:48691632 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000797104]|not provided [RCV003148866] Chr8:47862090 [GRCh38]
Chr8:48774651 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9462A>G (p.Gln3154=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000813726] Chr8:47817545 [GRCh38]
Chr8:48730106 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7108A>T (p.Ser2370Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000823939] Chr8:47849401 [GRCh38]
Chr8:48761962 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10904C>G (p.Thr3635Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000797978] Chr8:47785316 [GRCh38]
Chr8:48697877 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6802A>G (p.Lys2268Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799931] Chr8:47854174 [GRCh38]
Chr8:48766735 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1040G>A (p.Gly347Glu) single nucleotide variant Inborn genetic diseases [RCV002390716]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000824462] Chr8:47939624 [GRCh38]
Chr8:48852184 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10759-8C>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000814607] Chr8:47789057 [GRCh38]
Chr8:48701618 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10273C>T (p.Arg3425Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000818219] Chr8:47799234 [GRCh38]
Chr8:48711795 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2495A>G (p.Lys832Arg) single nucleotide variant Inborn genetic diseases [RCV003166230]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000803538] Chr8:47918308 [GRCh38]
Chr8:48830868 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9724A>T (p.Met3242Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000821711] Chr8:47807160 [GRCh38]
Chr8:48719721 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3911A>G (p.His1304Arg) single nucleotide variant not provided [RCV000999034] Chr8:47890417 [GRCh38]
Chr8:48802978 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11944A>G (p.Ser3982Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000814714] Chr8:47777784 [GRCh38]
Chr8:48690345 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10054G>A (p.Glu3352Lys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000820011] Chr8:47800855 [GRCh38]
Chr8:48713416 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3921A>G (p.Ile1307Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000795731] Chr8:47890407 [GRCh38]
Chr8:48802968 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4573-11_4573-10delinsAC indel Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000795923] Chr8:47886157..47886158 [GRCh38]
Chr8:48798718..48798719 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3547T>C (p.Cys1183Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812449] Chr8:47897212 [GRCh38]
Chr8:48809772 [GRCh37]
Chr8:8q11.21
uncertain significance
NC_000008.10:g.(?_48686714)_(48872706_?)dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000800663] Chr8:48686714..48872706 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9811G>A (p.Asp3271Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000794998] Chr8:47803417 [GRCh38]
Chr8:48715978 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8662G>T (p.Val2888Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000808269] Chr8:47826777 [GRCh38]
Chr8:48739338 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10275C>T (p.Arg3425=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000798927] Chr8:47799232 [GRCh38]
Chr8:48711793 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.2291C>T (p.Pro764Leu) single nucleotide variant Inborn genetic diseases [RCV002534644]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000800523] Chr8:47927322 [GRCh38]
Chr8:48839882 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5527A>G (p.Ile1843Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000802231] Chr8:47864600 [GRCh38]
Chr8:48777161 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1968A>C (p.Gln656His) single nucleotide variant Inborn genetic diseases [RCV003169031]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000822118] Chr8:47929937 [GRCh38]
Chr8:48842497 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7383C>T (p.Phe2461=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001501857] Chr8:47840087 [GRCh38]
Chr8:48752648 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.655G>C (p.Val219Leu) single nucleotide variant Inborn genetic diseases [RCV002534601]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000796500] Chr8:47953686 [GRCh38]
Chr8:48866246 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.179C>A (p.Ser60Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000815412] Chr8:47957407 [GRCh38]
Chr8:48869967 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4786G>A (p.Val1596Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000817106] Chr8:47882088 [GRCh38]
Chr8:48794649 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6772G>T (p.Glu2258Ter) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000802249] Chr8:47854204 [GRCh38]
Chr8:48766765 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1762G>A (p.Val588Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000822222] Chr8:47933034 [GRCh38]
Chr8:48845594 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9510T>C (p.Asp3170=) single nucleotide variant not provided [RCV000976507] Chr8:47817497 [GRCh38]
Chr8:48730058 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3821G>T (p.Arg1274Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000813118] Chr8:47893165 [GRCh38]
Chr8:48805726 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9442C>G (p.Gln3148Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812338] Chr8:47819405 [GRCh38]
Chr8:48731966 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4108A>G (p.Arg1370Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000800759] Chr8:47889186 [GRCh38]
Chr8:48801747 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu) single nucleotide variant PRKDC-related condition [RCV003975331]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000813535]|not provided [RCV001702719] Chr8:47826777 [GRCh38]
Chr8:48739338 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.4052C>G (p.Thr1351Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000809694] Chr8:47890276 [GRCh38]
Chr8:48802837 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4829A>C (p.Asn1610Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000809588] Chr8:47882045 [GRCh38]
Chr8:48794606 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9724A>G (p.Met3242Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799187] Chr8:47807160 [GRCh38]
Chr8:48719721 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12026C>A (p.Pro4009His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799394] Chr8:47777702 [GRCh38]
Chr8:48690263 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10066G>T (p.Ala3356Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812600] Chr8:47800843 [GRCh38]
Chr8:48713404 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q11.21(chr8:48730498-48829786)x1 copy number loss not provided [RCV000848742] Chr8:48730498..48829786 [GRCh37]
Chr8:8q11.21
pathogenic
NM_006904.7(PRKDC):c.2259+6C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799813] Chr8:47927765 [GRCh38]
Chr8:48840325 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6206G>A (p.Arg2069Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000822956] Chr8:47859612 [GRCh38]
Chr8:48772173 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12042+3A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000817781] Chr8:47777683 [GRCh38]
Chr8:48690244 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4394A>G (p.His1465Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000821210] Chr8:47888537 [GRCh38]
Chr8:48801098 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.10502A>T (p.His3501Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000823864] Chr8:47794458 [GRCh38]
Chr8:48707019 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8357A>G (p.Lys2786Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000801791] Chr8:47830645 [GRCh38]
Chr8:48743206 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9336+4A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000792235] Chr8:47820715 [GRCh38]
Chr8:48733276 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7600A>G (p.Asn2534Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000824426] Chr8:47837373 [GRCh38]
Chr8:48749934 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1115C>T (p.Pro372Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000824497] Chr8:47936516 [GRCh38]
Chr8:48849076 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4856C>G (p.Ala1619Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000810978] Chr8:47882018 [GRCh38]
Chr8:48794579 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7954G>A (p.Gly2652Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000802660]|not provided [RCV001553141] Chr8:47834394 [GRCh38]
Chr8:48746955 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11653C>T (p.Arg3885Trp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001046188] Chr8:47778659 [GRCh38]
Chr8:48691220 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4078AAG[1] (p.Lys1361del) microsatellite Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000810509] Chr8:47889211..47889213 [GRCh38]
Chr8:48801772..48801774 [GRCh37]
Chr8:8q11.21
uncertain significance
NC_000008.11:g.(?_47933000)_(47960146_?)dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001031268] Chr8:48845560..48872706 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10468G>A (p.Val3490Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000795751] Chr8:47794492 [GRCh38]
Chr8:48707053 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.593_618del (p.Arg198fs) deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000806999] Chr8:47953810..47953835 [GRCh38]
Chr8:48866370..48866395 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5759A>G (p.Tyr1920Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001068282] Chr8:47862533 [GRCh38]
Chr8:48775094 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6411A>G (p.Ile2137Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812364] Chr8:47858570 [GRCh38]
Chr8:48771131 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9752A>G (p.Asn3251Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812472] Chr8:47803476 [GRCh38]
Chr8:48716037 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5026A>G (p.Ile1676Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000796210] Chr8:47881457 [GRCh38]
Chr8:48794018 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2935-3C>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000811135] Chr8:47904979 [GRCh38]
Chr8:48817539 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5356G>A (p.Ala1786Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000814726] Chr8:47877731 [GRCh38]
Chr8:48790292 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1171C>T (p.Arg391Cys) single nucleotide variant Inborn genetic diseases [RCV002332671]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000812271] Chr8:47936460 [GRCh38]
Chr8:48849020 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4430A>G (p.His1477Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000795894] Chr8:47887689 [GRCh38]
Chr8:48800250 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5321T>G (p.Met1774Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000818494] Chr8:47877766 [GRCh38]
Chr8:48790327 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1630A>G (p.Ile544Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000796246] Chr8:47933166 [GRCh38]
Chr8:48845726 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8784G>A (p.Lys2928=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000815385]|not provided [RCV003424356] Chr8:47823996 [GRCh38]
Chr8:48736557 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.11894G>A (p.Arg3965His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000818605] Chr8:47777834 [GRCh38]
Chr8:48690395 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.693G>C (p.Leu231=) single nucleotide variant Inborn genetic diseases [RCV002363490]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001473811] Chr8:47953648 [GRCh38]
Chr8:48866208 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9375A>G (p.Arg3125=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000815627] Chr8:47819472 [GRCh38]
Chr8:48732033 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9514A>G (p.Lys3172Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799396] Chr8:47817493 [GRCh38]
Chr8:48730054 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8767T>C (p.Trp2923Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000810844] Chr8:47826672 [GRCh38]
Chr8:48739233 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) microsatellite Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002501027]|not provided [RCV000788262] Chr8:47800972..47800973 [GRCh38]
Chr8:48713533..48713534 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2955G>C (p.Glu985Asp) single nucleotide variant Inborn genetic diseases [RCV002440620]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001065323]|not provided [RCV000788287] Chr8:47904956 [GRCh38]
Chr8:48817516 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7808C>T (p.Thr2603Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000822788] Chr8:47836481 [GRCh38]
Chr8:48749042 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7960A>C (p.Ser2654Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000811044] Chr8:47834388 [GRCh38]
Chr8:48746949 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4664A>G (p.His1555Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000816386] Chr8:47886056 [GRCh38]
Chr8:48798617 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11940G>A (p.Met3980Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000799925] Chr8:47777788 [GRCh38]
Chr8:48690349 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6762-8T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001464455] Chr8:47854222 [GRCh38]
Chr8:48766783 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.496dup (p.Ile166fs) duplication PRKDC-related condition [RCV003918274]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000813185] Chr8:47954349..47954350 [GRCh38]
Chr8:48866909..48866910 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.2840A>T (p.Gln947Leu) single nucleotide variant Inborn genetic diseases [RCV003166091]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000792349] Chr8:47912504 [GRCh38]
Chr8:48825064 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11276G>A (p.Arg3759Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000816990] Chr8:47782498 [GRCh38]
Chr8:48695059 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5967T>C (p.Asn1989=) single nucleotide variant Inborn genetic diseases [RCV002354822]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001447955] Chr8:47862080 [GRCh38]
Chr8:48774641 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4314C>T (p.Gly1438=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001427449] Chr8:47888617 [GRCh38]
Chr8:48801178 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10786C>T (p.Leu3596=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000981564] Chr8:47789022 [GRCh38]
Chr8:48701583 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4963-9T>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001484251]|not provided [RCV000842446] Chr8:47881529 [GRCh38]
Chr8:48794090 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8173C>G (p.Leu2725Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000795591] Chr8:47831906 [GRCh38]
Chr8:48744467 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6230A>C (p.His2077Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000824052] Chr8:47858964 [GRCh38]
Chr8:48771525 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
GRCh37/hg19 8q11.21(chr8:48746598-48883437)x1 copy number loss not provided [RCV000846278] Chr8:48746598..48883437 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.1537G>A (p.Glu513Lys) single nucleotide variant Inborn genetic diseases [RCV002402453]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001065322] Chr8:47934051 [GRCh38]
Chr8:48846611 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10568A>G (p.Asp3523Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001066614] Chr8:47794392 [GRCh38]
Chr8:48706953 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7036G>A (p.Ala2346Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210781] Chr8:47849473 [GRCh38]
Chr8:48762034 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9104T>A (p.Phe3035Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001067021] Chr8:47821611 [GRCh38]
Chr8:48734172 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9487A>G (p.Thr3163Ala) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001045330] Chr8:47817520 [GRCh38]
Chr8:48730081 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3486_3488del (p.Leu1163del) deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001067239] Chr8:47897271..47897273 [GRCh38]
Chr8:48809831..48809833 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1646C>T (p.Ala549Val) single nucleotide variant Inborn genetic diseases [RCV002393653]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001246238] Chr8:47933150 [GRCh38]
Chr8:48845710 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3582C>G (p.Phe1194Leu) single nucleotide variant Inborn genetic diseases [RCV003365291]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001248272] Chr8:47897177 [GRCh38]
Chr8:48809737 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2264C>T (p.Ala755Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001208335] Chr8:47927349 [GRCh38]
Chr8:48839909 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5761G>A (p.Asp1921Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001225793] Chr8:47862531 [GRCh38]
Chr8:48775092 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1960A>G (p.Ile654Val) single nucleotide variant Inborn genetic diseases [RCV003163551]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001204974] Chr8:47929945 [GRCh38]
Chr8:48842505 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8599G>A (p.Ala2867Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001239380] Chr8:47826840 [GRCh38]
Chr8:48739401 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8265+5G>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001226411] Chr8:47831809 [GRCh38]
Chr8:48744370 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7384G>A (p.Val2462Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001222545] Chr8:47840086 [GRCh38]
Chr8:48752647 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6284C>T (p.Ala2095Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001224592] Chr8:47858910 [GRCh38]
Chr8:48771471 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2891G>A (p.Arg964Gln) single nucleotide variant Inborn genetic diseases [RCV002563767]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001231813] Chr8:47912453 [GRCh38]
Chr8:48825013 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2662A>G (p.Arg888Gly) single nucleotide variant Inborn genetic diseases [RCV002436929]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001237354] Chr8:47914020 [GRCh38]
Chr8:48826580 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11237G>A (p.Arg3746Lys) single nucleotide variant Inborn genetic diseases [RCV002436806]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001209459] Chr8:47782537 [GRCh38]
Chr8:48695098 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.9554A>G (p.Asn3185Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001224824] Chr8:47817453 [GRCh38]
Chr8:48730014 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5081C>G (p.Thr1694Ser) single nucleotide variant PRKDC-related condition [RCV003898238]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001241263] Chr8:47879645 [GRCh38]
Chr8:48792206 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2421T>G (p.Asp807Glu) single nucleotide variant Inborn genetic diseases [RCV002447176]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001234874] Chr8:47918382 [GRCh38]
Chr8:48830942 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10421G>A (p.Arg3474Gln) single nucleotide variant Inborn genetic diseases [RCV002393471]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001209793] Chr8:47798274 [GRCh38]
Chr8:48710835 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.3542C>G (p.Thr1181Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001218043] Chr8:47897217 [GRCh38]
Chr8:48809777 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4700T>A (p.Ile1567Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210145] Chr8:47886020 [GRCh38]
Chr8:48798581 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7635A>T (p.Leu2545Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001221440] Chr8:47837338 [GRCh38]
Chr8:48749899 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1693T>C (p.Tyr565His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001203748] Chr8:47933103 [GRCh38]
Chr8:48845663 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7892T>A (p.Val2631Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210136] Chr8:47836397 [GRCh38]
Chr8:48748958 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12133T>C (p.Cys4045Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210194] Chr8:47776893 [GRCh38]
Chr8:48689454 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10667C>T (p.Ala3556Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001214841] Chr8:47794293 [GRCh38]
Chr8:48706854 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7883G>A (p.Arg2628His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001221625] Chr8:47836406 [GRCh38]
Chr8:48748967 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3052G>A (p.Val1018Met) single nucleotide variant Inborn genetic diseases [RCV002447219]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001245970] Chr8:47902786 [GRCh38]
Chr8:48815346 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3527G>C (p.Cys1176Ser) single nucleotide variant Inborn genetic diseases [RCV002451524]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001223545] Chr8:47897232 [GRCh38]
Chr8:48809792 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9170C>A (p.Ala3057Asp) single nucleotide variant PRKDC-related condition [RCV003908464]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001242825] Chr8:47820885 [GRCh38]
Chr8:48733446 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3011A>C (p.Gln1004Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001218706] Chr8:47904900 [GRCh38]
Chr8:48817460 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9740G>A (p.Arg3247Gln) single nucleotide variant Inborn genetic diseases [RCV002379909]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001238627] Chr8:47807144 [GRCh38]
Chr8:48719705 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7811C>T (p.Pro2604Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210683] Chr8:47836478 [GRCh38]
Chr8:48749039 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5533G>A (p.Val1845Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001210594] Chr8:47864594 [GRCh38]
Chr8:48777155 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8923-7C>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001204389] Chr8:47821799 [GRCh38]
Chr8:48734360 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8383C>A (p.Gln2795Lys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001215394] Chr8:47830619 [GRCh38]
Chr8:48743180 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1497+5A>C single nucleotide variant PRKDC-related condition [RCV003898218]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001230613] Chr8:47935004 [GRCh38]
Chr8:48847564 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.5235+6T>C single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001201933] Chr8:47879485 [GRCh38]
Chr8:48792046 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11241A>C (p.Glu3747Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001219344] Chr8:47782533 [GRCh38]
Chr8:48695094 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.395T>C (p.Ile132Thr) single nucleotide variant Inborn genetic diseases [RCV003273678] Chr8:47955878 [GRCh38]
Chr8:48868438 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6320G>A (p.Ser2107Asn) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001212309] Chr8:47858874 [GRCh38]
Chr8:48771435 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9557+265C>T single nucleotide variant not provided [RCV001641468] Chr8:47817185 [GRCh38]
Chr8:48729746 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.12114G>T (p.Trp4038Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001229050] Chr8:47776912 [GRCh38]
Chr8:48689473 [GRCh37]
Chr8:8q11.21
uncertain significance
NC_000008.11:g.(?_47953600)_(47960146_?)dup duplication Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001032370] Chr8:48866160..48872706 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.121G>C (p.Glu41Gln) single nucleotide variant Inborn genetic diseases [RCV002355095]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001068790] Chr8:47960006 [GRCh38]
Chr8:48872566 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6465+102A>G single nucleotide variant not provided [RCV001550880] Chr8:47858414 [GRCh38]
Chr8:48770975 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11046A>C (p.Glu3682Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003107280] Chr8:47785174 [GRCh38]
Chr8:48697735 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2140-283dup duplication not provided [RCV001551543] Chr8:47928154..47928155 [GRCh38]
Chr8:48840714..48840715 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2781+127del deletion not provided [RCV001663119] Chr8:47913774 [GRCh38]
Chr8:48826334 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.12042+181T>C single nucleotide variant not provided [RCV001599063] Chr8:47777505 [GRCh38]
Chr8:48690066 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.4071+245C>T single nucleotide variant not provided [RCV001555000] Chr8:47890012 [GRCh38]
Chr8:48802573 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6346-104dup duplication not provided [RCV001560328] Chr8:47858730..47858731 [GRCh38]
Chr8:48771291..48771292 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4071+101TAT[10] microsatellite not provided [RCV001608521] Chr8:47890129..47890130 [GRCh38]
Chr8:48802690..48802691 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5235+210A>G single nucleotide variant not provided [RCV001550411] Chr8:47879281 [GRCh38]
Chr8:48791842 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4280+21C>T single nucleotide variant not provided [RCV001591555] Chr8:47888993 [GRCh38]
Chr8:48801554 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.12042+61T>C single nucleotide variant not provided [RCV001655534] Chr8:47777625 [GRCh38]
Chr8:48690186 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.400-267C>G single nucleotide variant not provided [RCV001674199] Chr8:47954713 [GRCh38]
Chr8:48867273 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6208-127C>T single nucleotide variant not provided [RCV001656022] Chr8:47859113 [GRCh38]
Chr8:48771674 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.10459-273A>C single nucleotide variant not provided [RCV001666974] Chr8:47794774 [GRCh38]
Chr8:48707335 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1893-317C>T single nucleotide variant not provided [RCV001667108] Chr8:47930329 [GRCh38]
Chr8:48842889 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3270-120A>G single nucleotide variant not provided [RCV001668897] Chr8:47900587 [GRCh38]
Chr8:48813147 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.2935-54C>T single nucleotide variant not provided [RCV001556903] Chr8:47905030 [GRCh38]
Chr8:48817590 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6465+49G>T single nucleotide variant not provided [RCV001592143] Chr8:47858467 [GRCh38]
Chr8:48771028 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.967-71G>A single nucleotide variant not provided [RCV001639692]|not specified [RCV003487560] Chr8:47939768 [GRCh38]
Chr8:48852328 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.8398-263T>C single nucleotide variant not provided [RCV001686452] Chr8:47828610 [GRCh38]
Chr8:48741171 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.400-146C>T single nucleotide variant not provided [RCV001587812] Chr8:47954592 [GRCh38]
Chr8:48867152 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.2196T>C (p.Phe732=) single nucleotide variant Inborn genetic diseases [RCV002427363]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV003586258] Chr8:47927834 [GRCh38]
Chr8:48840394 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001512510]|not provided [RCV003424460] Chr8:47852727 [GRCh38]
Chr8:48765288 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.7656G>A (p.Val2552=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001424360] Chr8:47837317 [GRCh38]
Chr8:48749878 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4742A>C (p.Glu1581Ala) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000909977] Chr8:47885978 [GRCh38]
Chr8:48798539 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001079448]|not provided [RCV000960629] Chr8:47830728 [GRCh38]
Chr8:48743289 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.69C>T (p.Asp23=) single nucleotide variant Inborn genetic diseases [RCV002372657]|not provided [RCV000952931] Chr8:47960058 [GRCh38]
Chr8:48872618 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=) single nucleotide variant Inborn genetic diseases [RCV002400001]|PRKDC-related condition [RCV003977937]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000907147] Chr8:47934049 [GRCh38]
Chr8:48846609 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.393T>C (p.Leu131=) single nucleotide variant Inborn genetic diseases [RCV002372546]|PRKDC-related condition [RCV003970432]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001449241] Chr8:47955880 [GRCh38]
Chr8:48868440 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.7761+9G>T single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001459610] Chr8:47837203 [GRCh38]
Chr8:48749764 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.6852C>T (p.Asp2284=) single nucleotide variant Inborn genetic diseases [RCV002372658]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000953757] Chr8:47854124 [GRCh38]
Chr8:48766685 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser) single nucleotide variant PRKDC-related condition [RCV003915833]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000953758] Chr8:47862455 [GRCh38]
Chr8:48775016 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8652A>G (p.Leu2884=) single nucleotide variant not provided [RCV000974092] Chr8:47826787 [GRCh38]
Chr8:48739348 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1236C>T (p.Ser412=) single nucleotide variant Inborn genetic diseases [RCV002363360]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000910738] Chr8:47936395 [GRCh38]
Chr8:48848955 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11106C>T (p.Pro3702=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000972778] Chr8:47785114 [GRCh38]
Chr8:48697675 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5079C>G (p.Val1693=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000908090] Chr8:47879647 [GRCh38]
Chr8:48792208 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5979A>G (p.Glu1993=) single nucleotide variant not provided [RCV000907473] Chr8:47862068 [GRCh38]
Chr8:48774629 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11121T>C (p.Gly3707=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001452565] Chr8:47783796 [GRCh38]
Chr8:48696357 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000882328]|not provided [RCV001796301] Chr8:47782437 [GRCh38]
Chr8:48694998 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.7935A>G (p.Thr2645=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000906514] Chr8:47836354 [GRCh38]
Chr8:48748915 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3045T>C (p.Asp1015=) single nucleotide variant Inborn genetic diseases [RCV002445055]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001424308] Chr8:47902793 [GRCh38]
Chr8:48815353 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.3622C>T (p.Leu1208=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001395857] Chr8:47893364 [GRCh38]
Chr8:48805924 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.509-4T>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000973785] Chr8:47953923 [GRCh38]
Chr8:48866483 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.9761T>G (p.Leu3254Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001212367] Chr8:47803467 [GRCh38]
Chr8:48716028 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9943T>C (p.Tyr3315His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001231633] Chr8:47800966 [GRCh38]
Chr8:48713527 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1878G>A (p.Leu626=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001218969] Chr8:47930686 [GRCh38]
Chr8:48843246 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7474G>C (p.Asp2492His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001035761] Chr8:47839227 [GRCh38]
Chr8:48751788 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1103T>C (p.Leu368Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001244736] Chr8:47939561 [GRCh38]
Chr8:48852121 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3562A>G (p.Ile1188Val) single nucleotide variant Inborn genetic diseases [RCV002451592]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001242984] Chr8:47897197 [GRCh38]
Chr8:48809757 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7649T>C (p.Ile2550Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001036100] Chr8:47837324 [GRCh38]
Chr8:48749885 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1312C>A (p.Leu438Ile) single nucleotide variant Inborn genetic diseases [RCV002379830]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001219648] Chr8:47935867 [GRCh38]
Chr8:48848427 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6329C>T (p.Pro2110Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001239621] Chr8:47858865 [GRCh38]
Chr8:48771426 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8268A>C (p.Glu2756Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001243286] Chr8:47830734 [GRCh38]
Chr8:48743295 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1582G>A (p.Val528Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001243329] Chr8:47934006 [GRCh38]
Chr8:48846566 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9985C>T (p.Leu3329Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001245008] Chr8:47800924 [GRCh38]
Chr8:48713485 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11935C>G (p.Leu3979Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001050701] Chr8:47777793 [GRCh38]
Chr8:48690354 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3037A>G (p.Ile1013Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001219705] Chr8:47904874 [GRCh38]
Chr8:48817434 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5537A>T (p.Asp1846Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001219706] Chr8:47864590 [GRCh38]
Chr8:48777151 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9137G>A (p.Arg3046His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001036650] Chr8:47820918 [GRCh38]
Chr8:48733479 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7694T>A (p.Met2565Lys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001208746] Chr8:47837279 [GRCh38]
Chr8:48749840 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4861A>G (p.Thr1621Ala) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001243713] Chr8:47882013 [GRCh38]
Chr8:48794574 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9982A>G (p.Ile3328Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001213757] Chr8:47800927 [GRCh38]
Chr8:48713488 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8327G>A (p.Arg2776Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001065216] Chr8:47830675 [GRCh38]
Chr8:48743236 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2197C>T (p.Leu733Phe) single nucleotide variant Inborn genetic diseases [RCV003163586]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001209156] Chr8:47927833 [GRCh38]
Chr8:48840393 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9932A>G (p.Asn3311Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001217198] Chr8:47800977 [GRCh38]
Chr8:48713538 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3092G>A (p.Arg1031Gln) single nucleotide variant Inborn genetic diseases [RCV002322023]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001209540] Chr8:47902746 [GRCh38]
Chr8:48815306 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.764C>T (p.Ala255Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001241351] Chr8:47943987 [GRCh38]
Chr8:48856547 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11998A>G (p.Asn4000Asp) single nucleotide variant Inborn genetic diseases [RCV002348791]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001235169] Chr8:47777730 [GRCh38]
Chr8:48690291 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001225199] Chr8:47799335 [GRCh38]
Chr8:48711896 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1564C>A (p.Pro522Thr) single nucleotide variant Inborn genetic diseases [RCV003246808]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001243968] Chr8:47934024 [GRCh38]
Chr8:48846584 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6784G>C (p.Gly2262Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001221753] Chr8:47854192 [GRCh38]
Chr8:48766753 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6917A>G (p.Asn2306Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001244260] Chr8:47852761 [GRCh38]
Chr8:48765322 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3608C>G (p.Ser1203Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001244273] Chr8:47893378 [GRCh38]
Chr8:48805938 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11232C>T (p.Asp3744=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001472878] Chr8:47782542 [GRCh38]
Chr8:48695103 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.8266-10G>A single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000956606] Chr8:47830746 [GRCh38]
Chr8:48743307 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5694A>G (p.Gln1898=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000958134] Chr8:47863455 [GRCh38]
Chr8:48776016 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4566A>G (p.Gly1522=) single nucleotide variant not provided [RCV000890361] Chr8:47887553 [GRCh38]
Chr8:48800114 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5868C>T (p.Phe1956=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001433692] Chr8:47862424 [GRCh38]
Chr8:48774985 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1116G>A (p.Pro372=) single nucleotide variant Inborn genetic diseases [RCV002434247]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000935400] Chr8:47936515 [GRCh38]
Chr8:48849075 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1368G>T (p.Val456=) single nucleotide variant Inborn genetic diseases [RCV002382120]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV000934385] Chr8:47935811 [GRCh38]
Chr8:48848371 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11176-288A>G single nucleotide variant not provided [RCV001547713] Chr8:47782886 [GRCh38]
Chr8:48695447 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1279-180GT[3] microsatellite not provided [RCV001656689] Chr8:47936073..47936074 [GRCh38]
Chr8:48848633..48848634 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5236-270dup duplication not provided [RCV001572343] Chr8:47878103..47878104 [GRCh38]
Chr8:48790664..48790665 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.1114-266del deletion not provided [RCV001578033] Chr8:47936783 [GRCh38]
Chr8:48849343 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11212A>G (p.Ile3738Val) single nucleotide variant not provided [RCV002469738] Chr8:47782562 [GRCh38]
Chr8:48695123 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11489+202T>G single nucleotide variant not provided [RCV001586718] Chr8:47781960 [GRCh38]
Chr8:48694521 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10297+304A>T single nucleotide variant not provided [RCV001569063] Chr8:47798906 [GRCh38]
Chr8:48711467 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.9446-278G>T single nucleotide variant not provided [RCV001720923] Chr8:47817839 [GRCh38]
Chr8:48730400 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5067+329_5067+332del deletion not provided [RCV001655453] Chr8:47881084..47881087 [GRCh38]
Chr8:48793645..48793648 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7455-275C>T single nucleotide variant not provided [RCV001619636] Chr8:47839521 [GRCh38]
Chr8:48752082 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.508+110A>C single nucleotide variant not provided [RCV001662847] Chr8:47954228 [GRCh38]
Chr8:48866788 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6761+265G>C single nucleotide variant not provided [RCV001686292] Chr8:47854957 [GRCh38]
Chr8:48767518 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.4072-263C>T single nucleotide variant not provided [RCV001673803] Chr8:47889485 [GRCh38]
Chr8:48802046 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7005+145A>G single nucleotide variant not provided [RCV001687122] Chr8:47852528 [GRCh38]
Chr8:48765089 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.11108-228A>G single nucleotide variant not provided [RCV001656241] Chr8:47784037 [GRCh38]
Chr8:48696598 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.324+193G>T single nucleotide variant not provided [RCV001658739] Chr8:47956978 [GRCh38]
Chr8:48869538 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.9337-5_9337-4del deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV002477869]|not provided [RCV001657377] Chr8:47819514..47819515 [GRCh38]
Chr8:48732075..48732076 [GRCh37]
Chr8:8q11.21
benign|likely benign
NM_006904.7(PRKDC):c.11854-123G>A single nucleotide variant not provided [RCV001659053] Chr8:47777997 [GRCh38]
Chr8:48690558 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.10297+89G>C single nucleotide variant not provided [RCV001716591]|not specified [RCV003487746] Chr8:47799121 [GRCh38]
Chr8:48711682 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.6761+223C>T single nucleotide variant not provided [RCV001720420] Chr8:47854999 [GRCh38]
Chr8:48767560 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.7253A>G (p.Lys2418Arg) single nucleotide variant Microcephaly [RCV001252900] Chr8:47849181 [GRCh38]
Chr8:48761742 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7859C>T (p.Thr2620Ile) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001034850] Chr8:47836430 [GRCh38]
Chr8:48748991 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11794A>G (p.Met3932Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001049954] Chr8:47778518 [GRCh38]
Chr8:48691079 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6515C>T (p.Ala2172Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001067350] Chr8:47857250 [GRCh38]
Chr8:48769811 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4322C>T (p.Ala1441Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001045220] Chr8:47888609 [GRCh38]
Chr8:48801170 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6415C>T (p.Pro2139Ser) single nucleotide variant Inborn genetic diseases [RCV003307842]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001047728] Chr8:47858566 [GRCh38]
Chr8:48771127 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.4071+101TAT[8] microsatellite not provided [RCV001610928] Chr8:47890130..47890132 [GRCh38]
Chr8:48802691..48802693 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.1892+42del deletion not provided [RCV001585433] Chr8:47930630 [GRCh38]
Chr8:48843190 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.4777-248G>A single nucleotide variant not provided [RCV001652081] Chr8:47882345 [GRCh38]
Chr8:48794906 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.3847+3A>G single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001047580] Chr8:47893136 [GRCh38]
Chr8:48805697 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5977G>C (p.Glu1993Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001035609] Chr8:47862070 [GRCh38]
Chr8:48774631 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2781+79T>C single nucleotide variant not provided [RCV001690182] Chr8:47913822 [GRCh38]
Chr8:48826382 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.10902+138C>T single nucleotide variant not provided [RCV001612343] Chr8:47788768 [GRCh38]
Chr8:48701329 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.427C>T (p.Leu143Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001047960] Chr8:47954419 [GRCh38]
Chr8:48866979 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4413+39T>C single nucleotide variant not provided [RCV001670568] Chr8:47888479 [GRCh38]
Chr8:48801040 [GRCh37]
Chr8:8q11.21
benign
NC_000008.11:g.(?_47774153)_(47799410_?)del deletion Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001033694] Chr8:48686714..48711971 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10111G>A (p.Glu3371Lys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001050494] Chr8:47800798 [GRCh38]
Chr8:48713359 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1114-281dup duplication not provided [RCV001538229] Chr8:47936782..47936783 [GRCh38]
Chr8:48849342..48849343 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.5576A>G (p.Asn1859Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001036341] Chr8:47863573 [GRCh38]
Chr8:48776134 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9557+200A>G single nucleotide variant not provided [RCV001538991] Chr8:47817250 [GRCh38]
Chr8:48729811 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.11176-51G>A single nucleotide variant not provided [RCV001696158] Chr8:47782649 [GRCh38]
Chr8:48695210 [GRCh37]
Chr8:8q11.21
benign
NM_006904.7(PRKDC):c.8577+178del deletion not provided [RCV001566841] Chr8:47827990 [GRCh38]
Chr8:48740551 [GRCh37]
Chr8:8q11.21
likely benign
NM_006904.7(PRKDC):c.5030G>C (p.Ser1677Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001247320] Chr8:47881453 [GRCh38]
Chr8:48794014 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4371G>T (p.Gln1457His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001218781] Chr8:47888560 [GRCh38]
Chr8:48801121 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8420A>T (p.Gln2807Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001217287] Chr8:47828325 [GRCh38]
Chr8:48740886 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7925A>G (p.His2642Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001206229] Chr8:47836364 [GRCh38]
Chr8:48748925 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6706G>C (p.Glu2236Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001236762] Chr8:47855277 [GRCh38]
Chr8:48767838 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8148G>A (p.Val2716=) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038576] Chr8:47834200 [GRCh38]
Chr8:48746761 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
NM_006904.7(PRKDC):c.6362A>G (p.Asp2121Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001203878] Chr8:47858619 [GRCh38]
Chr8:48771180 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10637C>G (p.Ser3546Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001234778] Chr8:47794323 [GRCh38]
Chr8:48706884 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3388G>T (p.Ala1130Ser) single nucleotide variant Inborn genetic diseases [RCV003283964]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001071517] Chr8:47898546 [GRCh38]
Chr8:48811106 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5959C>T (p.Arg1987Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001041923] Chr8:47862088 [GRCh38]
Chr8:48774649 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.983C>T (p.Ala328Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001220335] Chr8:47939681 [GRCh38]
Chr8:48852241 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7793G>A (p.Arg2598Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001036168] Chr8:47836496 [GRCh38]
Chr8:48749057 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7198G>T (p.Val2400Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001057305] Chr8:47849236 [GRCh38]
Chr8:48761797 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001057330]|not specified [RCV003479273] Chr8:47774217 [GRCh38]
Chr8:48686778 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7652A>T (p.Glu2551Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001216685] Chr8:47837321 [GRCh38]
Chr8:48749882 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10244C>T (p.Thr3415Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001207794] Chr8:47799263 [GRCh38]
Chr8:48711824 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2755C>T (p.Leu919Phe) single nucleotide variant Inborn genetic diseases [RCV002436700]|not provided [RCV001092027] Chr8:47913927 [GRCh38]
Chr8:48826487 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3782T>C (p.Leu1261Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001202439] Chr8:47893204 [GRCh38]
Chr8:48805765 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4354G>T (p.Val1452Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001234993] Chr8:47888577 [GRCh38]
Chr8:48801138 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6607A>G (p.Thr2203Ala) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001236188] Chr8:47857158 [GRCh38]
Chr8:48769719 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8156C>T (p.Ala2719Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001058647] Chr8:47831923 [GRCh38]
Chr8:48744484 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1123G>C (p.Val375Leu) single nucleotide variant Inborn genetic diseases [RCV003246751]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001205107] Chr8:47936508 [GRCh38]
Chr8:48849068 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11C>T (p.Ser4Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001069926] Chr8:47960116 [GRCh38]
Chr8:48872676 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2291C>G (p.Pro764Arg) single nucleotide variant Inborn genetic diseases [RCV003160267]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001040616] Chr8:47927322 [GRCh38]
Chr8:48839882 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3788C>T (p.Ala1263Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001208092] Chr8:47893198 [GRCh38]
Chr8:48805759 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4979C>G (p.Ser1660Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001208093] Chr8:47881504 [GRCh38]
Chr8:48794065 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5162A>G (p.His1721Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001234003] Chr8:47879564 [GRCh38]
Chr8:48792125 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.12106A>C (p.Lys4036Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001235628] Chr8:47776920 [GRCh38]
Chr8:48689481 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8407A>G (p.Ile2803Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001235629] Chr8:47828338 [GRCh38]
Chr8:48740899 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2966T>A (p.Met989Lys) single nucleotide variant Inborn genetic diseases [RCV003160478]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001059495] Chr8:47904945 [GRCh38]
Chr8:48817505 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7882C>T (p.Arg2628Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001217011] Chr8:47836407 [GRCh38]
Chr8:48748968 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10196C>T (p.Pro3399Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064012] Chr8:47799311 [GRCh38]
Chr8:48711872 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.6370T>A (p.Ser2124Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064145] Chr8:47858611 [GRCh38]
Chr8:48771172 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10264C>G (p.Gln3422Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001071574] Chr8:47799243 [GRCh38]
Chr8:48711804 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5467T>A (p.Ser1823Thr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064175] Chr8:47864660 [GRCh38]
Chr8:48777221 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11911A>G (p.Met3971Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001054380] Chr8:47777817 [GRCh38]
Chr8:48690378 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7063A>G (p.Thr2355Ala) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064633] Chr8:47849446 [GRCh38]
Chr8:48762007 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1819G>C (p.Asp607His) single nucleotide variant Inborn genetic diseases [RCV003160533]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064715] Chr8:47930745 [GRCh38]
Chr8:48843305 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2251G>A (p.Ala751Thr) single nucleotide variant Inborn genetic diseases [RCV002445334]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001064752] Chr8:47927779 [GRCh38]
Chr8:48840339 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.11990T>C (p.Leu3997Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001040605] Chr8:47777738 [GRCh38]
Chr8:48690299 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2270A>G (p.Lys757Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001051606] Chr8:47927343 [GRCh38]
Chr8:48839903 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8743C>T (p.Arg2915Cys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001041638] Chr8:47826696 [GRCh38]
Chr8:48739257 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10291G>T (p.Ala3431Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001204388] Chr8:47799216 [GRCh38]
Chr8:48711777 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2969A>C (p.Gln990Pro) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001037659] Chr8:47904942 [GRCh38]
Chr8:48817502 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4117G>T (p.Val1373Leu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001062515] Chr8:47889177 [GRCh38]
Chr8:48801738 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4284T>G (p.Ile1428Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001069830] Chr8:47888647 [GRCh38]
Chr8:48801208 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.1024A>G (p.Met342Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001062929] Chr8:47939640 [GRCh38]
Chr8:48852200 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7375G>A (p.Val2459Met) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001069967] Chr8:47840095 [GRCh38]
Chr8:48752656 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10832A>G (p.Glu3611Gly) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038251] Chr8:47788976 [GRCh38]
Chr8:48701537 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.9701G>A (p.Cys3234Tyr) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038723] Chr8:47807183 [GRCh38]
Chr8:48719744 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3281C>T (p.Ser1094Phe) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001056973] Chr8:47900456 [GRCh38]
Chr8:48813016 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4580G>A (p.Arg1527His) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001232242] Chr8:47886140 [GRCh38]
Chr8:48798701 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3044A>G (p.Asp1015Gly) single nucleotide variant Inborn genetic diseases [RCV002445221]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038912] Chr8:47902794 [GRCh38]
Chr8:48815354 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7414C>G (p.Gln2472Glu) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001038962] Chr8:47840056 [GRCh38]
Chr8:48752617 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2600A>G (p.Asn867Ser) single nucleotide variant Inborn genetic diseases [RCV003160163]|Microcephaly [RCV001252836] Chr8:47915345 [GRCh38]
Chr8:48827905 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.8458A>G (p.Met2820Val) single nucleotide variant Microcephaly [RCV001252936] Chr8:47828287 [GRCh38]
Chr8:48740848 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2297C>G (p.Ala766Gly) single nucleotide variant Inborn genetic diseases [RCV003307799]|Microcephaly [RCV001252846] Chr8:47927316 [GRCh38]
Chr8:48839876 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.10778G>A (p.Arg3593Lys) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001334616] Chr8:47789030 [GRCh38]
Chr8:48701591 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.3919A>G (p.Ile1307Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001294947] Chr8:47890409 [GRCh38]
Chr8:48802970 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.2620A>G (p.Thr874Ala) single nucleotide variant Inborn genetic diseases [RCV002431981]|Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001348360] Chr8:47914062 [GRCh38]
Chr8:48826622 [GRCh37]
Chr8:8q11.21
likely benign|uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_006904.7(PRKDC):c.11246C>G (p.Pro3749Arg) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001294879] Chr8:47782528 [GRCh38]
Chr8:48695089 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.5061T>G (p.His1687Gln) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001350175] Chr8:47881422 [GRCh38]
Chr8:48793983 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.7702A>G (p.Met2568Val) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001963983] Chr8:47837271 [GRCh38]
Chr8:48749832 [GRCh37]
Chr8:8q11.21
uncertain significance
NM_006904.7(PRKDC):c.4996G>A (p.Gly1666Ser) single nucleotide variant Severe combined immunodeficiency due to DNA-PKcs deficiency [RCV001349617] Chr8:47881487 [GRCh38]
Chr8:48794048 [GRCh37]
Chr8:8q11.21
uncertain significance
GRCh37/hg19 8q1