PRKCD (protein kinase C delta) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: PRKCD (protein kinase C delta) Homo sapiens
Analyze
Symbol: PRKCD
Name: protein kinase C delta
RGD ID: 69026
HGNC Page HGNC:9399
Description: Enables enzyme activator activity; protein kinase activity; and protein kinase binding activity. Involved in several processes, including cellular response to oxidative stress; positive regulation of protein import into nucleus; and regulation of membrane lipid metabolic process. Located in several cellular components, including cytosol; endolysosome; and endoplasmic reticulum. Implicated in autoimmune lymphoproliferative syndrome type 3 and steatotic liver disease. Biomarker of hypertension and portal hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALPS3; CVID9; MAY1; MGC49908; nPKC-delta; PKCD; protein kinase C delta type; protein kinase C delta VIII; tyrosine-protein kinase PRKCD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38353,161,209 - 53,192,717 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl353,156,009 - 53,192,717 (+)EnsemblGRCh38hg38GRCh38
GRCh37353,195,225 - 53,226,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,170,263 - 53,201,773 (+)NCBINCBI36Build 36hg18NCBI36
Build 34353,170,262 - 53,201,771NCBI
Celera353,162,239 - 53,193,756 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef353,210,511 - 53,276,026 (+)NCBIHuRef
CHM1_1353,146,796 - 53,178,291 (+)NCBICHM1_1
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-nitropropanoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-formylpterin  (EXP)
6-propyl-2-thiouracil  (ISO)
8-OH-DPAT  (ISO)
acetaldehyde  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP,ISO)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allyl alcohol  (ISO)
alpha-Zearalanol  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apocynin  (ISO)
aripiprazole  (EXP)
arjunolic acid  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
atrazine  (ISO)
Bay-K-8644  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisdemethoxycurcumin  (ISO)
bisoprolol  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bortezomib  (EXP)
brimonidine tartrate  (ISO)
bromocriptine  (ISO)
butorphanol  (EXP)
butylated hydroxyanisole  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
Calcimycin  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calphostin C  (ISO)
capsaicin  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
carvedilol  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
citalopram  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (ISO)
crotonaldehyde  (EXP)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
D-glucose  (EXP,ISO)
D-mannitol  (EXP)
daidzein  (EXP)
daunorubicin  (EXP)
demethoxycurcumin  (ISO)
desferrioxamine B  (EXP)
dextromethorphan  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenziodolium  (EXP,ISO)
dibutyl phthalate  (ISO)
dieldrin  (EXP,ISO)
diethyl maleate  (ISO)
dioxygen  (EXP)
disodium selenite  (ISO)
divanadium pentaoxide  (ISO)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
emodin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
folpet  (ISO)
fomepizole  (ISO)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
ginsenoside Re  (EXP,ISO)
glucose  (EXP,ISO)
glutathione  (EXP,ISO)
heptachlor  (ISO)
hexadecanoic acid  (EXP)
histamine  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (ISO)
irinotecan  (EXP)
isoprenaline  (ISO)
isorhamnetin  (EXP)
ivermectin  (EXP)
kainic acid  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (ISO)
lovastatin  (ISO)
LY294002  (EXP)
magnesium atom  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
methamphetamine  (EXP,ISO)
methotrexate  (EXP)
methyl beta-cyclodextrin  (EXP)
mevalonic acid  (ISO)
microcystin-LR  (ISO)
mitomycin C  (EXP)
morphine  (ISO)
Morroniside  (ISO)
motexafin gadolinium  (EXP)
myo-inositol hexakisphosphate  (EXP)
N-[2-[4-(2-methoxyphenyl)-1-piperazinyl]ethyl]-N-(2-pyridinyl)cyclohexanecarboxamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
naringin  (ISO)
nickel dichloride  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nitric oxide  (ISO)
oroxylin A  (EXP)
oxidopamine  (ISO)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
phencyclidine  (ISO)
phenylephrine  (ISO)
phorbol 12,13-dibutanoate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
picrotoxin  (ISO)
potassium cyanide  (ISO)
progesterone  (ISO)
propofol  (ISO)
propranolol  (ISO)
puerarin  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP)
rotenone  (ISO)
rottlerin  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP,ISO)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
staurosporine  (EXP,ISO)
streptozocin  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
taurine  (ISO)
testosterone  (EXP,ISO)
tetraphene  (EXP)
thalidomide  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trimethyltin  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tyrphostin AG 1478  (EXP)
U-73122  (EXP)
U50488  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
wortmannin  (EXP)
Yessotoxin  (EXP)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IDA,IEA)
B cell proliferation  (IEA,ISO)
cell chemotaxis  (IMP)
cellular response to angiotensin  (IDA)
cellular response to glucose starvation  (ISO)
cellular response to hydrogen peroxide  (IDA)
cellular response to hydroperoxide  (IDA)
cellular response to insulin stimulus  (ISO)
cellular response to oxidative stress  (ISO)
cellular response to UV  (IDA)
cellular senescence  (IMP)
collagen metabolic process  (ISO)
D-aspartate import across plasma membrane  (ISO)
defense response to bacterium  (IEA,ISS)
DNA damage response  (IMP)
Fc-gamma receptor signaling pathway involved in phagocytosis  (TAS)
immunoglobulin mediated immune response  (IEA,ISO)
intracellular signal transduction  (IBA,IEA,ISO)
intrinsic apoptotic signaling pathway in response to oxidative stress  (TAS)
negative regulation of actin filament polymerization  (IEA,ISS)
negative regulation of filopodium assembly  (IEA,ISS)
negative regulation of glial cell apoptotic process  (IMP)
negative regulation of inflammatory response  (IC)
negative regulation of insulin receptor signaling pathway  (IEA,ISS,TAS)
negative regulation of peptidyl-tyrosine phosphorylation  (IEA,ISS)
negative regulation of platelet aggregation  (IEA,ISS)
neutrophil activation  (IDA)
positive regulation of apoptotic process  (ISO)
positive regulation of apoptotic signaling pathway  (IEA,ISO)
positive regulation of ceramide biosynthetic process  (IMP)
positive regulation of glucose import  (ISO)
positive regulation of glucosylceramide catabolic process  (IMP)
positive regulation of MAP kinase activity  (ISO)
positive regulation of MAPK cascade  (ISO)
positive regulation of protein dephosphorylation  (IMP)
positive regulation of protein import into nucleus  (IMP)
positive regulation of sphingomyelin catabolic process  (IMP)
positive regulation of superoxide anion generation  (IMP)
post-translational protein modification  (IDA)
protein autophosphorylation  (ISO)
protein phosphorylation  (ISO)
protein stabilization  (NAS)
regulation of actin cytoskeleton organization  (IMP)
regulation of ceramide biosynthetic process  (IDA)
regulation of mRNA stability  (TAS)
regulation of primary metabolic process  (IEA)
response to amino acid  (ISO)
response to ethanol  (ISO)
response to glucose  (ISO)
response to hydrogen peroxide  (ISO)
response to hypoxia  (ISO)
response to mechanical stimulus  (ISO)
response to organic cyclic compound  (ISO)
response to organonitrogen compound  (ISO)
response to oxidative stress  (ISO)
response to xenobiotic stimulus  (ISO)
signal transduction  (IEA,TAS)
termination of signal transduction  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal circulating interleukin concentration  (IAGP)
Abnormal circulating vitamin B12 concentration  (IAGP)
Abnormal lymphocyte apoptosis  (IAGP)
Abnormal proportion of CD4-positive T cells  (IAGP)
Abnormal proportion of CD8-positive T cells  (IAGP)
Abnormality of the liver  (IAGP)
Absent isohemagglutinin level  (IAGP)
Alopecia  (IAGP)
Anal atresia  (IAGP)
Anticardiolipin IgG antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
B-cell lymphoma  (IAGP)
Basal cell carcinoma  (IAGP)
Bone marrow hypercellularity  (IAGP)
Bone marrow hypocellularity  (IAGP)
Brachycephaly  (IAGP)
Bronchiectasis  (IAGP)
Bruising susceptibility  (IAGP)
Burkitt lymphoma  (IAGP)
Chronic noninfectious lymphadenopathy  (IAGP)
Chronic otitis media  (IAGP)
Colitis  (IAGP)
Coombs-positive hemolytic anemia  (IAGP)
Decreased circulating antibody level  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement C4 concentration  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased proportion of class-switched memory B cells  (IAGP)
Decreased proportion of memory B cells  (IAGP)
Decreased specific anti-polysaccharide antibody level  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells  (IAGP)
Emphysema  (IAGP)
Eosinophilia  (IAGP)
Erythematous macule  (IAGP)
Failure to thrive in infancy  (IAGP)
Fibroadenoma of the breast  (IAGP)
Follicular hyperplasia  (IAGP)
Gastritis  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized lymphadenopathy  (IAGP)
Glomerulonephritis  (IAGP)
Headache  (IAGP)
Hemolytic anemia  (IAGP)
Hepatitis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hodgkin lymphoma  (IAGP)
Hydrops fetalis  (IAGP)
Hypersplenism  (IAGP)
Immunodeficiency  (IAGP)
Increased B cell count  (IAGP)
Increased circulating antibody level  (IAGP)
Increased circulating IgA level  (IAGP)
Increased circulating IgE level  (IAGP)
Increased circulating IgG level  (IAGP)
Increased circulating interleukin 10 concentration  (IAGP)
Increased circulating interleukin 18 concentration  (IAGP)
Increased proportion autoreactive unresponsive CD21-/low B cells  (IAGP)
Lymphadenopathy  (IAGP)
Lymphocytosis  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Lymphoproliferative disorder  (IAGP)
Mediastinal lymphadenopathy  (IAGP)
Membranous nephropathy  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the tongue  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Obstruction of the superior vena cava  (IAGP)
Otitis media  (IAGP)
Panniculitis  (IAGP)
Persistent EBV viremia  (IAGP)
Pneumonia  (IAGP)
Posterior pharyngeal cleft  (IAGP)
Premature ovarian insufficiency  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Purpura  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinusitis  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced natural killer cell activity  (IAGP)
Renal insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Reticulocytosis  (IAGP)
Rheumatoid factor positive  (IAGP)
Seizure  (IAGP)
Splenomegaly  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Systemic lupus erythematosus  (IAGP)
T-cell lymphoma  (IAGP)
Thyroid adenoma  (IAGP)
Thyroid carcinoma  (IAGP)
Thyroiditis  (IAGP)
Urticaria  (IAGP)
Uveitis  (IAGP)
Vasculitis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Chronic activation of protein kinase C in soleus muscles and other tissues of insulin-resistant type II diabetic Goto-Kakizaki (GK), obese/aged, and obese/Zucker rats. A mechanism for inhibiting glycogen synthesis. Avignon A, etal., Diabetes. 1996 Oct;45(10):1396-404.
2. Regulation of protein kinase C isozymes in volume overload cardiac hypertrophy. Braun MU, etal., Mol Cell Biochem. 2004 Jul;262(1-2):135-43.
3. DeltaPKC mediates microcerebrovascular dysfunction in acute ischemia and in chronic hypertensive stress in vivo. Bright R, etal., Brain Res. 2007 May 4;1144:146-55. Epub 2007 Feb 2.
4. A systems biology approach to the pathogenesis of obesity-related nonalcoholic fatty liver disease using reverse phase protein microarrays for multiplexed cell signaling analysis. Calvert VS, etal., Hepatology. 2007 Jul;46(1):166-72.
5. Altered cardiac endothelin receptors and protein kinase C in deoxycorticosterone-salt hypertensive rats. Fareh J, etal., J Mol Cell Cardiol. 2000 Apr;32(4):665-76.
6. Changes in protein kinase C in early cardiomyopathy and in gracilis muscle in the BB/Wor diabetic rat. Giles TD, etal., Am J Physiol. 1998 Jan;274(1 Pt 2):H295-307.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Activation of protein kinase c-delta and c-epsilon by oxidative stress in early diabetic rat kidney. Ha H, etal., Am J Kidney Dis. 2001 Oct;38(4 Suppl 1):S204-7.
9. Protein kinase C isozymes in hypertension and hypertrophy: insight from SHHF rat hearts. Johnsen DD, etal., Mol Cell Biochem. 2005 Feb;270(1-2):63-9.
10. Protective role of intracellular zinc in myocardial ischemia/reperfusion is associated with preservation of protein kinase C isoforms. Karagulova G, etal., J Pharmacol Exp Ther. 2007 May;321(2):517-25. Epub 2007 Feb 22.
11. Activation and translocation of PKCdelta is necessary for VEGF-induced ERK activation through KDR in HEK293T cells. Kuriyama M, etal., Biochem Biophys Res Commun. 2004 Dec 17;325(3):843-51.
12. Free fatty acid-induced hepatic insulin resistance: a potential role for protein kinase C-delta. Lam TK, etal., Am J Physiol Endocrinol Metab 2002 Oct;283(4):E682-91.
13. Obesity is associated with impaired ventricular protein kinase C-MAP kinase signaling and altered ANP mRNA expression in the heart of adult Zucker rats. Morabito D, etal., J Investig Med. 2001 Jul;49(4):310-8.
14. Protein kinase C: poised to signal. Newton AC Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E395-402. Epub 2009 Nov 24.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Dual mechanism of autoregulation of protein kinase C in myocardial ischemia. Simonis G, etal., Mol Cell Biochem. 2007 Jan;295(1-2):121-8. Epub 2006 Aug 22.
22. PKC-delta-dependent activation of oxidative stress in adipocytes of obese and insulin-resistant mice: role for NADPH oxidase. Talior I, etal., Am J Physiol Endocrinol Metab. 2005 Feb;288(2):E405-11. Epub 2004 Oct 26.
23. Effects of burn injury on myocardial signaling and cytokine secretion: Possible role of PKC. Tan J, etal., Am J Physiol Regul Integr Comp Physiol. 2007 Feb;292(2):R887-96. Epub 2006 Sep 21.
24. Difference in gene expression of macrophage between normal spleen and portal hypertensive spleen identified by cDNA microarray. Yan F and Wang XM, World J Gastroenterol. 2007 Jun 28;13(24):3369-73.
Additional References at PubMed
PMID:1677563   PMID:1694174   PMID:1832084   PMID:1848190   PMID:1939065   PMID:1970444   PMID:2139676   PMID:2182321   PMID:2984676   PMID:2987962   PMID:3259291   PMID:7543024  
PMID:7559455   PMID:7575560   PMID:7588787   PMID:7642615   PMID:7690989   PMID:7706316   PMID:7781068   PMID:7850771   PMID:7876252   PMID:7890750   PMID:7925449   PMID:7988719  
PMID:8089108   PMID:8188219   PMID:8206685   PMID:8357834   PMID:8429024   PMID:8473314   PMID:8599832   PMID:8621384   PMID:8621594   PMID:8627654   PMID:8647875   PMID:8810272  
PMID:8824244   PMID:8914829   PMID:8976194   PMID:8999860   PMID:8999969   PMID:9139733   PMID:9151826   PMID:9166747   PMID:9305920   PMID:9343414   PMID:9355737   PMID:9427282  
PMID:9446795   PMID:9671211   PMID:9679146   PMID:9705322   PMID:9735171   PMID:9748166   PMID:9771888   PMID:9774685   PMID:9804763   PMID:9819435   PMID:9832145   PMID:9857183  
PMID:9872331   PMID:10022904   PMID:10090741   PMID:10206975   PMID:10212259   PMID:10329716   PMID:10383400   PMID:10383403   PMID:10433554   PMID:10446219   PMID:10491200   PMID:10521505  
PMID:10542228   PMID:10542257   PMID:10628374   PMID:10641798   PMID:10646504   PMID:10698949   PMID:10713049   PMID:10737616   PMID:10770950   PMID:10831594   PMID:10843712   PMID:10945993  
PMID:10948194   PMID:11020388   PMID:11035810   PMID:11042191   PMID:11044099   PMID:11053353   PMID:11078718   PMID:11085981   PMID:11141237   PMID:11145703   PMID:11154208   PMID:11171046  
PMID:11266508   PMID:11278470   PMID:11335711   PMID:11350938   PMID:11352632   PMID:11381116   PMID:11389095   PMID:11415434   PMID:11438522   PMID:11463380   PMID:11466390   PMID:11502742  
PMID:11504923   PMID:11517230   PMID:11555640   PMID:11558579   PMID:11571229   PMID:11577086   PMID:11676480   PMID:11700305   PMID:11713246   PMID:11723252   PMID:11732925   PMID:11744693  
PMID:11748588   PMID:11749387   PMID:11781095   PMID:11818507   PMID:11822877   PMID:11833470   PMID:11839738   PMID:11864971   PMID:11877428   PMID:11877440   PMID:11884598   PMID:11884618  
PMID:11901153   PMID:11901191   PMID:11914583   PMID:11916978   PMID:11919157   PMID:11923305   PMID:11943682   PMID:11950841   PMID:11959144   PMID:11964256   PMID:11972023   PMID:12014986  
PMID:12024011   PMID:12031982   PMID:12054501   PMID:12056906   PMID:12080077   PMID:12091471   PMID:12093536   PMID:12097319   PMID:12134071   PMID:12147630   PMID:12154081   PMID:12162751  
PMID:12193405   PMID:12198130   PMID:12210761   PMID:12235228   PMID:12361954   PMID:12377207   PMID:12377781   PMID:12379484   PMID:12387894   PMID:12391145   PMID:12393602   PMID:12427758  
PMID:12431976   PMID:12435421   PMID:12454008   PMID:12477932   PMID:12482669   PMID:12493764   PMID:12505880   PMID:12510148   PMID:12522006   PMID:12535519   PMID:12536241   PMID:12551925  
PMID:12576423   PMID:12628935   PMID:12634498   PMID:12637327   PMID:12649167   PMID:12663471   PMID:12682249   PMID:12682370   PMID:12721299   PMID:12729789   PMID:12759139   PMID:12759229  
PMID:12759450   PMID:12763138   PMID:12783114   PMID:12795334   PMID:12805378   PMID:12807916   PMID:12809676   PMID:12817007   PMID:12826681   PMID:12842900   PMID:12847277   PMID:12941954  
PMID:12943720   PMID:14527959   PMID:14551213   PMID:14561742   PMID:14578358   PMID:14581488   PMID:14583092   PMID:14596936   PMID:14636897   PMID:14654844   PMID:14656938   PMID:14661062  
PMID:14699137   PMID:14699138   PMID:14715667   PMID:14720513   PMID:14757756   PMID:14963018   PMID:14966116   PMID:14970215   PMID:15024053   PMID:15044084   PMID:15123666   PMID:15133032  
PMID:15167677   PMID:15175028   PMID:15213298   PMID:15280372   PMID:15282327   PMID:15284289   PMID:15302935   PMID:15304079   PMID:15308560   PMID:15322115   PMID:15331751   PMID:15337529  
PMID:15340077   PMID:15358156   PMID:15364919   PMID:15381704   PMID:15488737   PMID:15489375   PMID:15494216   PMID:15494525   PMID:15516986   PMID:15536414   PMID:15591124   PMID:15601585  
PMID:15618223   PMID:15618968   PMID:15623535   PMID:15632189   PMID:15637072   PMID:15689238   PMID:15698833   PMID:15716280   PMID:15723830   PMID:15731106   PMID:15735693   PMID:15757899  
PMID:15774464   PMID:15802551   PMID:15806174   PMID:15824731   PMID:15851033   PMID:15894802   PMID:15923181   PMID:15942654   PMID:15978696   PMID:16024613   PMID:16024783   PMID:16033904  
PMID:16039614   PMID:16042408   PMID:16052516   PMID:16055435   PMID:16055706   PMID:16114000   PMID:16127146   PMID:16158048   PMID:16174865   PMID:16260419   PMID:16278684   PMID:16314418  
PMID:16343435   PMID:16377624   PMID:16403461   PMID:16410245   PMID:16412390   PMID:16421932   PMID:16440330   PMID:16460683   PMID:16489124   PMID:16505477   PMID:16543902   PMID:16572399  
PMID:16611985   PMID:16614259   PMID:16646678   PMID:16651613   PMID:16669786   PMID:16687414   PMID:16772297   PMID:16785027   PMID:16785226   PMID:16843828   PMID:16895913   PMID:16901898  
PMID:16930532   PMID:16930534   PMID:16940418   PMID:16951338   PMID:16981720   PMID:16982614   PMID:17017122   PMID:17126298   PMID:17135298   PMID:17178875   PMID:17203073   PMID:17210122  
PMID:17226776   PMID:17244494   PMID:17303575   PMID:17311929   PMID:17316401   PMID:17374730   PMID:17392515   PMID:17431791   PMID:17455223   PMID:17495969   PMID:17549442   PMID:17562707  
PMID:17565738   PMID:17579121   PMID:17603046   PMID:17608772   PMID:17666590   PMID:17673262   PMID:17689924   PMID:17698617   PMID:17850925   PMID:17893151   PMID:17904606   PMID:17933493  
PMID:17938203   PMID:17943181   PMID:17959229   PMID:17965192   PMID:18006831   PMID:18029348   PMID:18055557   PMID:18067888   PMID:18092356   PMID:18092819   PMID:18172602   PMID:18285345  
PMID:18285462   PMID:18342628   PMID:18362147   PMID:18413747   PMID:18425341   PMID:18434324   PMID:18436431   PMID:18479751   PMID:18497307   PMID:18541226   PMID:18550547   PMID:18556656  
PMID:18577246   PMID:18579725   PMID:18594782   PMID:18637128   PMID:18637130   PMID:18653803   PMID:18682391   PMID:18692180   PMID:18752579   PMID:18836180   PMID:18854243   PMID:18952226  
PMID:18974277   PMID:18990707   PMID:19002183   PMID:19015273   PMID:19030108   PMID:19037087   PMID:19056867   PMID:19059439   PMID:19074768   PMID:19146951   PMID:19158279   PMID:19164129  
PMID:19169273   PMID:19188511   PMID:19190347   PMID:19213940   PMID:19248119   PMID:19248786   PMID:19279008   PMID:19279011   PMID:19279193   PMID:19356729   PMID:19363595   PMID:19366211  
PMID:19380743   PMID:19437514   PMID:19458088   PMID:19458393   PMID:19477272   PMID:19492056   PMID:19553685   PMID:19563780   PMID:19581935   PMID:19591825   PMID:19592494   PMID:19632318  
PMID:19662097   PMID:19664934   PMID:19667069   PMID:19669929   PMID:19725029   PMID:19747914   PMID:19801500   PMID:19808702   PMID:19833733   PMID:19854263   PMID:19875824   PMID:19885862  
PMID:19897486   PMID:19913121   PMID:19917613   PMID:19924022   PMID:19932628   PMID:19951712   PMID:19953087   PMID:19966859   PMID:20074641   PMID:20086103   PMID:20093486   PMID:20097574  
PMID:20110406   PMID:20152816   PMID:20184865   PMID:20190138   PMID:20236250   PMID:20335173   PMID:20336759   PMID:20379614   PMID:20395553   PMID:20416077   PMID:20471435   PMID:20547768  
PMID:20548952   PMID:20607592   PMID:20628086   PMID:20665667   PMID:20732874   PMID:20733000   PMID:20959447   PMID:20961851   PMID:20974803   PMID:21146494   PMID:21155880   PMID:21159880  
PMID:21191175   PMID:21191416   PMID:21233420   PMID:21307189   PMID:21310943   PMID:21311042   PMID:21321929   PMID:21326872   PMID:21335545   PMID:21362509   PMID:21386996   PMID:21454541  
PMID:21468691   PMID:21482705   PMID:21562222   PMID:21576825   PMID:21618512   PMID:21651489   PMID:21652709   PMID:21725358   PMID:21730054   PMID:21732487   PMID:21736870   PMID:21804018  
PMID:21805047   PMID:21832049   PMID:21840193   PMID:21858203   PMID:21873635   PMID:21895402   PMID:21926972   PMID:22001522   PMID:22009151   PMID:22052014   PMID:22065579   PMID:22114277  
PMID:22162761   PMID:22163289   PMID:22199349   PMID:22216119   PMID:22265677   PMID:22266210   PMID:22282354   PMID:22326427   PMID:22356114   PMID:22374815   PMID:22403741   PMID:22435755  
PMID:22465666   PMID:22475757   PMID:22496486   PMID:22517552   PMID:22528498   PMID:22554282   PMID:22653778   PMID:22687273   PMID:22744337   PMID:22847611   PMID:22974980   PMID:22984491  
PMID:22988234   PMID:23028692   PMID:23108398   PMID:23128233   PMID:23221613   PMID:23283232   PMID:23317503   PMID:23319571   PMID:23322705   PMID:23349801   PMID:23376485   PMID:23430113  
PMID:23449456   PMID:23454274   PMID:23455922   PMID:23473759   PMID:23474764   PMID:23520519   PMID:23524339   PMID:23525216   PMID:23536578   PMID:23559010   PMID:23562842   PMID:23596171  
PMID:23599428   PMID:23666743   PMID:23814099   PMID:23879269   PMID:23881925   PMID:23896721   PMID:23988089   PMID:24008408   PMID:24211111   PMID:24289563   PMID:24332066   PMID:24396867  
PMID:24500281   PMID:24500718   PMID:24522549   PMID:24528676   PMID:24662486   PMID:24721208   PMID:24814288   PMID:24840642   PMID:24996056   PMID:25017423   PMID:25124034   PMID:25156550  
PMID:25178676   PMID:25225290   PMID:25236603   PMID:25241761   PMID:25280942   PMID:25322815   PMID:25342743   PMID:25419709   PMID:25495526   PMID:25514083   PMID:25515270   PMID:25548371  
PMID:25625567   PMID:25746003   PMID:25755284   PMID:25810549   PMID:26015399   PMID:26017369   PMID:26112605   PMID:26121314   PMID:26218882   PMID:26284819   PMID:26300055   PMID:26344197  
PMID:26496610   PMID:26522132   PMID:26546672   PMID:26668311   PMID:26808499   PMID:26821209   PMID:26972000   PMID:27081176   PMID:27190303   PMID:27196755   PMID:27203386   PMID:27311997  
PMID:27373413   PMID:27519412   PMID:27531930   PMID:27717886   PMID:27765273   PMID:27826039   PMID:27841943   PMID:27910925   PMID:28003329   PMID:28081739   PMID:28319085   PMID:28428613  
PMID:28476658   PMID:28514442   PMID:28539656   PMID:28561935   PMID:28571764   PMID:28756980   PMID:28758638   PMID:28777435   PMID:28819452   PMID:28846113   PMID:29036789   PMID:29048618  
PMID:29050245   PMID:29395067   PMID:29414441   PMID:29467282   PMID:29739836   PMID:29752438   PMID:30251087   PMID:30277474   PMID:30397336   PMID:30589566   PMID:30679314   PMID:30684133  
PMID:30690837   PMID:30890550   PMID:30948266   PMID:31010051   PMID:31091453   PMID:31096047   PMID:31105694   PMID:31233741   PMID:31772273   PMID:31871319   PMID:31927141   PMID:31980649  
PMID:32707033   PMID:32759670   PMID:32814053   PMID:32877691   PMID:33047643   PMID:33059680   PMID:33144569   PMID:33307168   PMID:33318039   PMID:33411917   PMID:33556471   PMID:33778066  
PMID:33932405   PMID:33947863   PMID:33961781   PMID:34079125   PMID:34264265   PMID:34551306   PMID:34593629   PMID:34654719   PMID:34671015   PMID:34732716   PMID:34857952   PMID:34917906  
PMID:35033667   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35490382   PMID:35509820   PMID:35831314   PMID:36168628   PMID:36215168   PMID:36279664   PMID:36610398   PMID:36648303  
PMID:36650346   PMID:36736316   PMID:36782298   PMID:36834691   PMID:36851883   PMID:36982784   PMID:37794137   PMID:37827155   PMID:37864033   PMID:37894811   PMID:38128308   PMID:38134280  
PMID:38347536  


Genomics

Comparative Map Data
PRKCD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38353,161,209 - 53,192,717 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl353,156,009 - 53,192,717 (+)EnsemblGRCh38hg38GRCh38
GRCh37353,195,225 - 53,226,733 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36353,170,263 - 53,201,773 (+)NCBINCBI36Build 36hg18NCBI36
Build 34353,170,262 - 53,201,771NCBI
Celera353,162,239 - 53,193,756 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef353,210,511 - 53,276,026 (+)NCBIHuRef
CHM1_1353,146,796 - 53,178,291 (+)NCBICHM1_1
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBIT2T-CHM13v2.0
Prkcd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391430,317,310 - 30,348,637 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1430,317,311 - 30,348,167 (-)EnsemblGRCm39 Ensembl
GRCm381430,595,353 - 30,626,414 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1430,595,354 - 30,626,210 (-)EnsemblGRCm38mm10GRCm38
MGSCv371431,408,555 - 31,423,498 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361429,424,378 - 29,447,560 (-)NCBIMGSCv36mm8
Celera1426,853,019 - 26,867,962 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1418.82NCBI
Prkcd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8165,775,681 - 5,806,122 (-)NCBIGRCr8
mRatBN7.2165,769,217 - 5,799,380 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl165,769,215 - 5,799,352 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx165,781,205 - 5,811,322 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0166,926,659 - 6,956,775 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0165,779,783 - 5,809,932 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0166,655,131 - 6,675,746 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl166,655,120 - 6,675,746 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0166,588,990 - 6,608,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4165,954,218 - 5,975,743 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1165,954,214 - 5,975,741 (-)NCBI
Celera169,398,816 - 9,419,806 (+)NCBICelera
Cytogenetic Map16p16NCBI
Prkcd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554303,124,738 - 3,153,274 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554303,125,066 - 3,151,857 (+)NCBIChiLan1.0ChiLan1.0
PRKCD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2253,157,598 - 53,189,084 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1353,162,376 - 53,193,855 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0353,104,137 - 53,135,588 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1354,330,328 - 54,357,910 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl354,330,328 - 54,357,910 (+)Ensemblpanpan1.1panPan2
PRKCD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12036,723,491 - 36,751,982 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2036,723,809 - 36,752,191 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2036,660,459 - 36,673,894 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02037,001,697 - 37,030,998 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,001,704 - 37,031,073 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12036,438,983 - 36,452,419 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02036,800,686 - 36,814,133 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02037,015,742 - 37,029,186 (-)NCBIUU_Cfam_GSD_1.0
Prkcd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118170,754,028 - 170,788,044 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364733,892,366 - 3,923,515 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364733,892,625 - 3,923,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKCD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1335,290,610 - 35,323,356 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11335,290,835 - 35,323,245 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21338,361,707 - 38,390,508 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRKCD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12214,561,401 - 14,592,877 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2214,565,282 - 14,592,873 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041152,302,998 - 152,334,406 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkcd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248224,033,130 - 4,059,555 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248224,035,819 - 4,062,907 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKCD
468 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006254.4(PRKCD):c.1743+8C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000554360] Chr3:53189254 [GRCh38]
Chr3:53223270 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1926G>A (p.Ala642=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000526084]|not provided [RCV001692189] Chr3:53192161 [GRCh38]
Chr3:53226177 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.890G>A (p.Arg297Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000544622] Chr3:53185605 [GRCh38]
Chr3:53219621 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1176G>A (p.Glu392=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001395766]|PRKCD-related condition [RCV003935520] Chr3:53186256 [GRCh38]
Chr3:53220272 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_006254.3(PRKCD):c.1934C>T (p.Ser645Phe) single nucleotide variant Malignant melanoma [RCV000060848] Chr3:53192169 [GRCh38]
Chr3:53226185 [GRCh37]
Chr3:53201225 [NCBI36]
Chr3:3p21.1		 not provided
NM_006254.4(PRKCD):c.1352+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000074607] Chr3:53186696 [GRCh38]
Chr3:53220712 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000144965] Chr3:53188832 [GRCh38]
Chr3:53222848 [GRCh37]
Chr3:3p21.1		 pathogenic|not provided
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000144966]|not provided [RCV003105796] Chr3:53189969 [GRCh38]
Chr3:53223985 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000821649]|not provided [RCV000756563] Chr3:53185664 [GRCh38]
Chr3:53219680 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1448G>A (p.Arg483Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001857837]|Inborn genetic diseases [RCV003165675]|not specified [RCV000239035] Chr3:53188752 [GRCh38]
Chr3:53222768 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_006254.4(PRKCD):c.741C>T (p.Cys247=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000531998] Chr3:53183535 [GRCh38]
Chr3:53217551 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.945T>C (p.Gly315=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000552657] Chr3:53185660 [GRCh38]
Chr3:53219676 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1260+6C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001000594]|PRKCD-related condition [RCV003925697] Chr3:53186346 [GRCh38]
Chr3:53220362 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_006254.4(PRKCD):c.1525T>C (p.Cys509Arg) single nucleotide variant not provided [RCV000722195] Chr3:53188829 [GRCh38]
Chr3:53222845 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.715A>G (p.Met239Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000555820] Chr3:53183509 [GRCh38]
Chr3:53217525 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1360G>A (p.Ala454Thr) single nucleotide variant Inborn genetic diseases [RCV004022172]|not specified [RCV000413423] Chr3:53187347 [GRCh38]
Chr3:53221363 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515316]|not provided [RCV001653809]|not specified [RCV000454840] Chr3:53189911 [GRCh38]
Chr3:53223927 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.180T>C (p.Asp60=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515643]|not provided [RCV001672771]|not specified [RCV000454899] Chr3:53179641 [GRCh38]
Chr3:53213657 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515317]|not provided [RCV001613284]|not specified [RCV000455503] Chr3:53189986 [GRCh38]
Chr3:53224002 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515314]|not provided [RCV001692120]|not specified [RCV000455584] Chr3:53186199 [GRCh38]
Chr3:53220215 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001515315]|not provided [RCV001712413]|not specified [RCV000455968] Chr3:53188745 [GRCh38]
Chr3:53222761 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001081059]|not provided [RCV000506287] Chr3:53185984 [GRCh38]
Chr3:53220000 [GRCh37]
Chr3:3p21.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006254.4(PRKCD):c.214G>C (p.Val72Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000538649] Chr3:53179675 [GRCh38]
Chr3:53213691 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.889-9C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000768295] Chr3:53185595 [GRCh38]
Chr3:53219611 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006254.4(PRKCD):c.908A>G (p.Asp303Gly) single nucleotide variant Inborn genetic diseases [RCV003262035] Chr3:53185623 [GRCh38]
Chr3:53219639 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.584C>T (p.Ala195Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651927] Chr3:53183133 [GRCh38]
Chr3:53217149 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1036A>G (p.Ile346Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651929] Chr3:53185977 [GRCh38]
Chr3:53219993 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-2A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651930] Chr3:53184872 [GRCh38]
Chr3:53218888 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_006254.4(PRKCD):c.1081G>A (p.Gly361Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651931] Chr3:53186022 [GRCh38]
Chr3:53220038 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1981G>A (p.Ala661Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651932] Chr3:53192216 [GRCh38]
Chr3:53226232 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1086+9T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651933] Chr3:53186036 [GRCh38]
Chr3:53220052 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000651934]|not provided [RCV001703224] Chr3:53187349 [GRCh38]
Chr3:53221365 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006254.4(PRKCD):c.604G>A (p.Asp202Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000690095] Chr3:53183153 [GRCh38]
Chr3:53217169 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000693078] Chr3:53178444 [GRCh38]
Chr3:53212460 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1352+4C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000699227] Chr3:53186699 [GRCh38]
Chr3:53220715 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.940C>G (p.Gln314Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000690189] Chr3:53185655 [GRCh38]
Chr3:53219671 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.928G>A (p.Val310Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000695715] Chr3:53185643 [GRCh38]
Chr3:53219659 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1296G>T (p.Gly432=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000806209] Chr3:53186639 [GRCh38]
Chr3:53220655 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006254.4(PRKCD):c.-19-208C>A single nucleotide variant not provided [RCV001679783] Chr3:53178196 [GRCh38]
Chr3:53212212 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1341C>T (p.Leu447=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000979698] Chr3:53186684 [GRCh38]
Chr3:53220700 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.579C>T (p.Asn193=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583180] Chr3:53183128 [GRCh38]
Chr3:53217144 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1635G>A (p.Gln545=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001403772] Chr3:53189138 [GRCh38]
Chr3:53223154 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+24GT[13] microsatellite not provided [RCV001668058] Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.152T>C (p.Met51Thr) single nucleotide variant not provided [RCV000762118] Chr3:53179613 [GRCh38]
Chr3:53213629 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-183dup duplication not provided [RCV001662992] Chr3:53184675..53184676 [GRCh38]
Chr3:53218691..53218692 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.998C>A (p.Thr333Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001045480] Chr3:53185939 [GRCh38]
Chr3:53219955 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1682G>A (p.Arg561His) single nucleotide variant not provided [RCV000998092] Chr3:53189185 [GRCh38]
Chr3:53223201 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.-19-37C>T single nucleotide variant not provided [RCV001679360]|not specified [RCV003401614] Chr3:53178367 [GRCh38]
Chr3:53212383 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1743+29_1743+33del deletion not provided [RCV001668863]|not specified [RCV003401576] Chr3:53189271..53189275 [GRCh38]
Chr3:53223287..53223291 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000981690] Chr3:53188751 [GRCh38]
Chr3:53222767 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_006254.4(PRKCD):c.1956C>T (p.Ile652=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000900408] Chr3:53192191 [GRCh38]
Chr3:53226207 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1470C>T (p.Ala490=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001401477] Chr3:53188774 [GRCh38]
Chr3:53222790 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.693C>T (p.His231=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001462155] Chr3:53183487 [GRCh38]
Chr3:53217503 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.243G>C (p.Val81=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001436316] Chr3:53179704 [GRCh38]
Chr3:53213720 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1500C>T (p.Phe500=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000900993]|PRKCD-related condition [RCV003950566] Chr3:53188804 [GRCh38]
Chr3:53222820 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.792C>T (p.Cys264=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000923383] Chr3:53184878 [GRCh38]
Chr3:53218894 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+10G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001440882]|PRKCD-related condition [RCV003942879] Chr3:53179786 [GRCh38]
Chr3:53213802 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1156C>T (p.Leu386=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000927060] Chr3:53186236 [GRCh38]
Chr3:53220252 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.912A>G (p.Ser304=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000899447] Chr3:53185627 [GRCh38]
Chr3:53219643 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.264G>T (p.Val88=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002537551] Chr3:53179725 [GRCh38]
Chr3:53213741 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1002C>T (p.Tyr334=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001481002] Chr3:53185943 [GRCh38]
Chr3:53219959 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1365T>G (p.Ala455=) single nucleotide variant not provided [RCV000924468] Chr3:53187352 [GRCh38]
Chr3:53221368 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.174G>A (p.Thr58=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001423873]|not provided [RCV003432940] Chr3:53179635 [GRCh38]
Chr3:53213651 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.373G>A (p.Val125Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001058603] Chr3:53181264 [GRCh38]
Chr3:53215280 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.395G>A (p.Arg132His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001070545] Chr3:53181462 [GRCh38]
Chr3:53215478 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.1294G>A (p.Gly432Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001048964] Chr3:53186637 [GRCh38]
Chr3:53220653 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1040A>G (p.Asn347Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001060914] Chr3:53185981 [GRCh38]
Chr3:53219997 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1691C>T (p.Thr564Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000791738]|Inborn genetic diseases [RCV004027394] Chr3:53189194 [GRCh38]
Chr3:53223210 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.1707C>G (p.Arg569=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000809668] Chr3:53189210 [GRCh38]
Chr3:53223226 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.217C>T (p.Leu73=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001475602] Chr3:53179678 [GRCh38]
Chr3:53213694 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.300C>A (p.Gly100=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000963819] Chr3:53179761 [GRCh38]
Chr3:53213777 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.915C>T (p.Ala305=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000933050]|PRKCD-related condition [RCV003960499] Chr3:53185630 [GRCh38]
Chr3:53219646 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.2010C>T (p.Phe670=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000936594] Chr3:53192245 [GRCh38]
Chr3:53226261 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.915C>A (p.Ala305=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001484308] Chr3:53185630 [GRCh38]
Chr3:53219646 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.57C>G (p.Ala19=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000983472] Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000966289]|not provided [RCV001702867] Chr3:53183152 [GRCh38]
Chr3:53217168 [GRCh37]
Chr3:3p21.1		 benign|likely benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_006254.4(PRKCD):c.1705C>T (p.Arg569Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000813676] Chr3:53189208 [GRCh38]
Chr3:53223224 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.372C>T (p.Asp124=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000960457] Chr3:53181263 [GRCh38]
Chr3:53215279 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.549C>A (p.Asn183Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000799460] Chr3:53181710 [GRCh38]
Chr3:53215726 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.202G>A (p.Val68Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000819270] Chr3:53179663 [GRCh38]
Chr3:53213679 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.610A>T (p.Ile204Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000816082] Chr3:53183159 [GRCh38]
Chr3:53217175 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1872+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000821269] Chr3:53190002 [GRCh38]
Chr3:53224018 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.68C>T (p.Ala23Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000818271]|Inborn genetic diseases [RCV004028947] Chr3:53178490 [GRCh38]
Chr3:53212506 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.1998G>A (p.Val666=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001436376] Chr3:53192233 [GRCh38]
Chr3:53226249 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000809137] Chr3:53179741 [GRCh38]
Chr3:53213757 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.657+3G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000795484] Chr3:53183209 [GRCh38]
Chr3:53217225 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000803050]|not provided [RCV000998091] Chr3:53186293 [GRCh38]
Chr3:53220309 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.1060G>A (p.Val354Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000815675] Chr3:53186001 [GRCh38]
Chr3:53220017 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.417C>G (p.Phe139Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000816095] Chr3:53181484 [GRCh38]
Chr3:53215500 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1781_1782delinsTG (p.Thr594Met) indel Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000817708] Chr3:53189910..53189911 [GRCh38]
Chr3:53223926..53223927 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1345C>T (p.Arg449Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000811737] Chr3:53186688 [GRCh38]
Chr3:53220704 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.961G>A (p.Gly321Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796220] Chr3:53185676 [GRCh38]
Chr3:53219692 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1060G>C (p.Val354Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796431] Chr3:53186001 [GRCh38]
Chr3:53220017 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1844G>T (p.Arg615Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001246338]|Inborn genetic diseases [RCV002554825]|not provided [RCV001091095] Chr3:53189973 [GRCh38]
Chr3:53223989 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1450G>A (p.Asp484Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001065493] Chr3:53188754 [GRCh38]
Chr3:53222770 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.580G>A (p.Ala194Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000796846] Chr3:53183129 [GRCh38]
Chr3:53217145 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1671C>T (p.Phe557=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000893481] Chr3:53189174 [GRCh38]
Chr3:53223190 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.896C>T (p.Ser299Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001047130] Chr3:53185611 [GRCh38]
Chr3:53219627 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.884C>T (p.Thr295Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001211123] Chr3:53184970 [GRCh38]
Chr3:53218986 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.267G>A (p.Ser89=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001238980] Chr3:53179728 [GRCh38]
Chr3:53213744 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.652A>G (p.Thr218Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001221098] Chr3:53183201 [GRCh38]
Chr3:53217217 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001210040] Chr3:53179758 [GRCh38]
Chr3:53213774 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1051T>G (p.Phe351Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001238570] Chr3:53185992 [GRCh38]
Chr3:53220008 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1342T>A (p.Tyr448Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001222114] Chr3:53186685 [GRCh38]
Chr3:53220701 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.-19-241C>T single nucleotide variant not provided [RCV001619030] Chr3:53178163 [GRCh38]
Chr3:53212179 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.115+21C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001789529]|not provided [RCV001682240]|not specified [RCV003401608] Chr3:53178558 [GRCh38]
Chr3:53212574 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+9C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001002188]|PRKCD-related condition [RCV003972957] Chr3:53179785 [GRCh38]
Chr3:53213801 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_006254.4(PRKCD):c.1269G>A (p.Leu423=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000919006] Chr3:53186612 [GRCh38]
Chr3:53220628 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.240A>G (p.Pro80=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002549559] Chr3:53179701 [GRCh38]
Chr3:53213717 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.63C>T (p.Asp21=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001430038] Chr3:53178485 [GRCh38]
Chr3:53212501 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.2028T>C (p.Asp676=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001399391] Chr3:53192263 [GRCh38]
Chr3:53226279 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.276C>T (p.Ala92=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001401988] Chr3:53179737 [GRCh38]
Chr3:53213753 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.105G>A (p.Ala35=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000887074] Chr3:53178527 [GRCh38]
Chr3:53212543 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+7G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000904602]|not provided [RCV003326501] Chr3:53187409 [GRCh38]
Chr3:53221425 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+9G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000977936] Chr3:53187411 [GRCh38]
Chr3:53221427 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1637C>T (p.Ser546Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001242877] Chr3:53189140 [GRCh38]
Chr3:53223156 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.991A>G (p.Ser331Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001206464]|not provided [RCV003325550] Chr3:53185932 [GRCh38]
Chr3:53219948 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.616G>A (p.Gly206Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001070448] Chr3:53183165 [GRCh38]
Chr3:53217181 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1293C>T (p.Asn431=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000935657] Chr3:53186636 [GRCh38]
Chr3:53220652 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+8G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000889396]|PRKCD-related condition [RCV003920735] Chr3:53188866 [GRCh38]
Chr3:53222882 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1791C>A (p.Ile597=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001415779] Chr3:53189920 [GRCh38]
Chr3:53223936 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1260+7G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000912986] Chr3:53186347 [GRCh38]
Chr3:53220363 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_006254.4(PRKCD):c.1299G>A (p.Gly433=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000936042] Chr3:53186642 [GRCh38]
Chr3:53220658 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1555-6C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV000935161] Chr3:53189052 [GRCh38]
Chr3:53223068 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3 copy number gain not provided [RCV002473850] Chr3:52780509..53418869 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1260+88T>C single nucleotide variant not provided [RCV001721581]|not specified [RCV003401653] Chr3:53186428 [GRCh38]
Chr3:53220444 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1743+29T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001789430]|not provided [RCV001595729]|not specified [RCV003399406] Chr3:53189275 [GRCh38]
Chr3:53223291 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1260+123dup duplication not provided [RCV001661205]|not specified [RCV003401563] Chr3:53186457..53186458 [GRCh38]
Chr3:53220473..53220474 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.571+51G>A single nucleotide variant not provided [RCV001598744]|not specified [RCV003399404] Chr3:53181783 [GRCh38]
Chr3:53215799 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1261-51G>A single nucleotide variant not provided [RCV001595937]|not specified [RCV003399408] Chr3:53186553 [GRCh38]
Chr3:53220569 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1726A>G (p.Lys576Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001068763] Chr3:53189229 [GRCh38]
Chr3:53223245 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.116-55C>G single nucleotide variant not provided [RCV001610949]|not specified [RCV003399412] Chr3:53179522 [GRCh38]
Chr3:53213538 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.571+127A>C single nucleotide variant not provided [RCV001680758]|not specified [RCV003401600] Chr3:53181859 [GRCh38]
Chr3:53215875 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.115+163C>T single nucleotide variant not provided [RCV001667899] Chr3:53178700 [GRCh38]
Chr3:53212716 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.788-183AG[10] microsatellite not provided [RCV001611877] Chr3:53184690..53184691 [GRCh38]
Chr3:53218706..53218707 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+24GT[12] microsatellite not provided [RCV001652657]|not specified [RCV003394187] Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1260+123_1260+124insG insertion not provided [RCV001708609]|not specified [RCV003401636] Chr3:53186463..53186464 [GRCh38]
Chr3:53220479..53220480 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.788-251C>T single nucleotide variant not provided [RCV001682177] Chr3:53184623 [GRCh38]
Chr3:53218639 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.316-82C>A single nucleotide variant not provided [RCV001615762]|not specified [RCV003487514] Chr3:53181125 [GRCh38]
Chr3:53215141 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.799A>C (p.Asn267His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001036343] Chr3:53184885 [GRCh38]
Chr3:53218901 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001231375] Chr3:53181732 [GRCh38]
Chr3:53215748 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.377-10T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001220340] Chr3:53181434 [GRCh38]
Chr3:53215450 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1306A>T (p.Met436Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001205418] Chr3:53186649 [GRCh38]
Chr3:53220665 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1672G>A (p.Glu558Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001214321] Chr3:53189175 [GRCh38]
Chr3:53223191 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1231A>G (p.Thr411Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001205915] Chr3:53186311 [GRCh38]
Chr3:53220327 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.744C>T (p.Gly248=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001058768] Chr3:53183538 [GRCh38]
Chr3:53217554 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1927C>T (p.Arg643Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001216406] Chr3:53192162 [GRCh38]
Chr3:53226178 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1784G>A (p.Gly595Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001215341] Chr3:53189913 [GRCh38]
Chr3:53223929 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.256G>A (p.Val86Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001218559] Chr3:53179717 [GRCh38]
Chr3:53213733 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1957G>A (p.Asp653Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001048870] Chr3:53192192 [GRCh38]
Chr3:53226208 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1211C>G (p.Ala404Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001071105]|Inborn genetic diseases [RCV004030778] Chr3:53186291 [GRCh38]
Chr3:53220307 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.899G>A (p.Arg300Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001039743] Chr3:53185614 [GRCh38]
Chr3:53219630 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.458T>C (p.Ile153Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001053969] Chr3:53181525 [GRCh38]
Chr3:53215541 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.925C>G (p.Pro309Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001055862] Chr3:53185640 [GRCh38]
Chr3:53219656 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1244G>A (p.Cys415Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001042162] Chr3:53186324 [GRCh38]
Chr3:53220340 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.1822T>C (p.Trp608Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001233165] Chr3:53189951 [GRCh38]
Chr3:53223967 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.214G>A (p.Val72Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001038721] Chr3:53179675 [GRCh38]
Chr3:53213691 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1652A>G (p.Asp551Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001062972] Chr3:53189155 [GRCh38]
Chr3:53223171 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.88G>A (p.Val30Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001246177] Chr3:53178510 [GRCh38]
Chr3:53212526 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.743G>A (p.Gly248Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001313618] Chr3:53183537 [GRCh38]
Chr3:53217553 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.742G>A (p.Gly248Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001267783] Chr3:53183536 [GRCh38]
Chr3:53217552 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.869C>T (p.Ala290Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001325024] Chr3:53184955 [GRCh38]
Chr3:53218971 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.826G>T (p.Val276Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001301866] Chr3:53184912 [GRCh38]
Chr3:53218928 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.703G>A (p.Val235Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001289607] Chr3:53183497 [GRCh38]
Chr3:53217513 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1329C>T (p.Gly443=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343151] Chr3:53186672 [GRCh38]
Chr3:53220688 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.2002C>T (p.Pro668Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343179] Chr3:53192237 [GRCh38]
Chr3:53226253 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1706G>A (p.Arg569His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001343631] Chr3:53189209 [GRCh38]
Chr3:53223225 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.268G>A (p.Val90Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001315325] Chr3:53179729 [GRCh38]
Chr3:53213745 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001342972] Chr3:53179601 [GRCh38]
Chr3:53213617 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1763C>G (p.Thr588Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001369912] Chr3:53189892 [GRCh38]
Chr3:53223908 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53125899)_(53226302_?)del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001382500] Chr3:53125899..53226302 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.985+10G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001397262] Chr3:53185710 [GRCh38]
Chr3:53219726 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.305C>T (p.Ala102Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001371639] Chr3:53179766 [GRCh38]
Chr3:53213782 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.531C>G (p.Asp177Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001341991] Chr3:53181598 [GRCh38]
Chr3:53215614 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.635C>T (p.Ala212Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001320243] Chr3:53183184 [GRCh38]
Chr3:53217200 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001316718] Chr3:53178466 [GRCh38]
Chr3:53212482 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1184T>C (p.Met395Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001324360] Chr3:53186264 [GRCh38]
Chr3:53220280 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1003G>A (p.Gly335Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001295577] Chr3:53185944 [GRCh38]
Chr3:53219960 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1743+10CTGGG[4] microsatellite Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001305905] Chr3:53189255..53189256 [GRCh38]
Chr3:53223271..53223272 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_53125899)_(53215768_?)dup duplication Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001309080] Chr3:53125899..53215768 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1727A>G (p.Lys576Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001364327]|Inborn genetic diseases [RCV003169831] Chr3:53189230 [GRCh38]
Chr3:53223246 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1801C>G (p.Pro601Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001299568] Chr3:53189930 [GRCh38]
Chr3:53223946 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001340311] Chr3:53179631 [GRCh38]
Chr3:53213647 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.647G>A (p.Arg216Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001325888] Chr3:53183196 [GRCh38]
Chr3:53217212 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1873-3T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001307173] Chr3:53192105 [GRCh38]
Chr3:53226121 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1123T>G (p.Phe375Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001365462] Chr3:53186203 [GRCh38]
Chr3:53220219 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.948C>T (p.Phe316=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001413086]|not provided [RCV003438777] Chr3:53185663 [GRCh38]
Chr3:53219679 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1928G>A (p.Arg643His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001365969] Chr3:53192163 [GRCh38]
Chr3:53226179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.651C>T (p.Asp217=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001490374] Chr3:53183200 [GRCh38]
Chr3:53217216 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1881C>G (p.Pro627=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001457088] Chr3:53192116 [GRCh38]
Chr3:53226132 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1788C>T (p.Asn596=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001451742] Chr3:53189917 [GRCh38]
Chr3:53223933 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+19C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001520801] Chr3:53187421 [GRCh38]
Chr3:53221437 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.539+9C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001415760] Chr3:53181615 [GRCh38]
Chr3:53215631 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.9G>A (p.Pro3=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001405843] Chr3:53178431 [GRCh38]
Chr3:53212447 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.531C>T (p.Asp177=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001408917] Chr3:53181598 [GRCh38]
Chr3:53215614 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.658-5_658-2dup duplication Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001502338] Chr3:53183446..53183447 [GRCh38]
Chr3:53217462..53217463 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.633C>T (p.Thr211=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001494317] Chr3:53183182 [GRCh38]
Chr3:53217198 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.21C>T (p.Ile7=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001481985] Chr3:53178443 [GRCh38]
Chr3:53212459 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+178C>T single nucleotide variant not provided [RCV001645429] Chr3:53179954 [GRCh38]
Chr3:53213970 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.658-55A>G single nucleotide variant not provided [RCV001673786]|not specified [RCV003401579] Chr3:53183397 [GRCh38]
Chr3:53217413 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1352+54_1352+61del deletion not provided [RCV001536473]|not specified [RCV003394119] Chr3:53186748..53186755 [GRCh38]
Chr3:53220764..53220771 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1415+92C>T single nucleotide variant not provided [RCV001653341] Chr3:53187494 [GRCh38]
Chr3:53221510 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1260+19G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001511823]|not provided [RCV001638102] Chr3:53186359 [GRCh38]
Chr3:53220375 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1087-54G>T single nucleotide variant not provided [RCV001540568] Chr3:53186113 [GRCh38]
Chr3:53220129 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1941C>T (p.Ser647=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001477921] Chr3:53192176 [GRCh38]
Chr3:53226192 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.690G>A (p.Pro230=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001464658] Chr3:53183484 [GRCh38]
Chr3:53217500 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1301del (p.Asp434fs) deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001385018] Chr3:53186644 [GRCh38]
Chr3:53220660 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.840C>T (p.Cys280=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001488003] Chr3:53184926 [GRCh38]
Chr3:53218942 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.255C>T (p.Thr85=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001403531] Chr3:53179716 [GRCh38]
Chr3:53213732 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.405C>T (p.Asp135=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001459970] Chr3:53181472 [GRCh38]
Chr3:53215488 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1744-7G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001458814] Chr3:53189866 [GRCh38]
Chr3:53223882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.492C>A (p.Thr164=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001484825] Chr3:53181559 [GRCh38]
Chr3:53215575 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.57C>T (p.Ala19=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001419813] Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1692G>A (p.Thr564=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001476888] Chr3:53189195 [GRCh38]
Chr3:53223211 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1212C>T (p.Ala404=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001400759] Chr3:53186292 [GRCh38]
Chr3:53220308 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.960C>T (p.Thr320=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001462184] Chr3:53185675 [GRCh38]
Chr3:53219691 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.729C>T (p.Phe243=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001430828] Chr3:53183523 [GRCh38]
Chr3:53217539 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.571+2dup duplication Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776307] Chr3:53181733..53181734 [GRCh38]
Chr3:53215749..53215750 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776308] Chr3:53187371 [GRCh38]
Chr3:53221387 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.642del (p.Asn214fs) deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001776309] Chr3:53183191 [GRCh38]
Chr3:53217207 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.1976C>T (p.Ala659Val) single nucleotide variant See cases [RCV002252915]|not provided [RCV003443014] Chr3:53192211 [GRCh38]
Chr3:53226227 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1511G>A (p.Arg504Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001987795] Chr3:53188815 [GRCh38]
Chr3:53222831 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.902G>T (p.Arg301Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002042565] Chr3:53185617 [GRCh38]
Chr3:53219633 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.2016C>A (p.His672Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002009330] Chr3:53192251 [GRCh38]
Chr3:53226267 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.56C>T (p.Ala19Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001971098] Chr3:53178478 [GRCh38]
Chr3:53212494 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.340G>C (p.Val114Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001914117] Chr3:53181231 [GRCh38]
Chr3:53215247 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.394C>T (p.Arg132Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002045245] Chr3:53181461 [GRCh38]
Chr3:53215477 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1942G>A (p.Asp648Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001863406] Chr3:53192177 [GRCh38]
Chr3:53226193 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1847T>G (p.Leu616Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001863557] Chr3:53189976 [GRCh38]
Chr3:53223992 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.787+4C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002043111] Chr3:53183585 [GRCh38]
Chr3:53217601 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.446A>G (p.Lys149Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001926781] Chr3:53181513 [GRCh38]
Chr3:53215529 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.567C>T (p.Cys189=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001912561] Chr3:53181728 [GRCh38]
Chr3:53215744 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_006254.4(PRKCD):c.405C>G (p.Asp135Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001986536] Chr3:53181472 [GRCh38]
Chr3:53215488 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.1(chr3:52968525-53450333) copy number gain not specified [RCV002053351] Chr3:52968525..53450333 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1501G>T (p.Gly501Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002044224] Chr3:53188805 [GRCh38]
Chr3:53222821 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002007693] Chr3:53179656 [GRCh38]
Chr3:53213672 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.631A>T (p.Thr211Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001909086] Chr3:53183180 [GRCh38]
Chr3:53217196 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.932G>A (p.Gly311Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002042736] Chr3:53185647 [GRCh38]
Chr3:53219663 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001927589] Chr3:53178466 [GRCh38]
Chr3:53212482 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1491G>T (p.Glu497Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001984981] Chr3:53188795 [GRCh38]
Chr3:53222811 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.442A>G (p.Ile148Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001909676] Chr3:53181509 [GRCh38]
Chr3:53215525 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.820G>A (p.Glu274Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001985537] Chr3:53184906 [GRCh38]
Chr3:53218922 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.892G>A (p.Ala298Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002002033] Chr3:53185607 [GRCh38]
Chr3:53219623 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1439T>C (p.Leu480Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001966482] Chr3:53188743 [GRCh38]
Chr3:53222759 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1871T>C (p.Val624Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002041721] Chr3:53190000 [GRCh38]
Chr3:53224016 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002019785] Chr3:53178486 [GRCh38]
Chr3:53212502 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.377-7T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002038111] Chr3:53181437 [GRCh38]
Chr3:53215453 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del) microsatellite Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002050794] Chr3:53179598..53179600 [GRCh38]
Chr3:53213614..53213616 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.671G>A (p.Arg224His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001877853] Chr3:53183465 [GRCh38]
Chr3:53217481 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.657+6C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001940921] Chr3:53183212 [GRCh38]
Chr3:53217228 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.376G>T (p.Asp126Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001878535] Chr3:53181267 [GRCh38]
Chr3:53215283 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.2030G>T (p.Ter677Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001976713] Chr3:53192265 [GRCh38]
Chr3:53226281 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.250G>T (p.Val84Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001902023] Chr3:53179711 [GRCh38]
Chr3:53213727 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.2026G>T (p.Asp676Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001932987] Chr3:53192261 [GRCh38]
Chr3:53226277 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.572-6T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002030155] Chr3:53183115 [GRCh38]
Chr3:53217131 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.5C>T (p.Ala2Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001918870] Chr3:53178427 [GRCh38]
Chr3:53212443 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.433C>T (p.Arg145Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001991031] Chr3:53181500 [GRCh38]
Chr3:53215516 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1744C>T (p.Leu582Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002017685] Chr3:53189873 [GRCh38]
Chr3:53223889 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.421A>G (p.Thr141Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001977217] Chr3:53181488 [GRCh38]
Chr3:53215504 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001960700] Chr3:53179746 [GRCh38]
Chr3:53213762 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.581C>T (p.Ala194Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002049048] Chr3:53183130 [GRCh38]
Chr3:53217146 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1353-8_1353-7del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002010042] Chr3:53187332..53187333 [GRCh38]
Chr3:53221348..53221349 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001920172] Chr3:53179601 [GRCh38]
Chr3:53213617 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1702C>T (p.Pro568Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001978282] Chr3:53189205 [GRCh38]
Chr3:53223221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001939509]|not provided [RCV002269381] Chr3:53179776 [GRCh38]
Chr3:53213792 [GRCh37]
Chr3:3p21.1		 pathogenic|uncertain significance
NM_006254.4(PRKCD):c.646C>T (p.Arg216Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002017174] Chr3:53183195 [GRCh38]
Chr3:53217211 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1300dup (p.Asp434fs) duplication Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001972817] Chr3:53186636..53186637 [GRCh38]
Chr3:53220652..53220653 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.544C>T (p.Leu182Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001905716] Chr3:53181705 [GRCh38]
Chr3:53215721 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.578A>G (p.Asn193Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001898914] Chr3:53183127 [GRCh38]
Chr3:53217143 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.793G>A (p.Gly265Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001919350] Chr3:53184879 [GRCh38]
Chr3:53218895 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1722G>T (p.Glu574Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002028970] Chr3:53189225 [GRCh38]
Chr3:53223241 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.376+6A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001922621] Chr3:53181273 [GRCh38]
Chr3:53215289 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.2003C>A (p.Pro668His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001954793]|Inborn genetic diseases [RCV004044200] Chr3:53192238 [GRCh38]
Chr3:53226254 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1376G>A (p.Cys459Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV001956642] Chr3:53187363 [GRCh38]
Chr3:53221379 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.539+10G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002185741] Chr3:53181616 [GRCh38]
Chr3:53215632 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.376+9T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002206881] Chr3:53181276 [GRCh38]
Chr3:53215292 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.889-20C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002091195] Chr3:53185584 [GRCh38]
Chr3:53219600 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.116-17del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002084957] Chr3:53179560 [GRCh38]
Chr3:53213576 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+19G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002105204] Chr3:53179795 [GRCh38]
Chr3:53213811 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.894C>T (p.Ala298=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002090369] Chr3:53185609 [GRCh38]
Chr3:53219625 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.225G>C (p.Arg75=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002187810] Chr3:53179686 [GRCh38]
Chr3:53213702 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1458C>T (p.His486=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002109130] Chr3:53188762 [GRCh38]
Chr3:53222778 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.384A>G (p.Lys128=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002090644] Chr3:53181451 [GRCh38]
Chr3:53215467 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.615C>T (p.Ile205=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002125330] Chr3:53183164 [GRCh38]
Chr3:53217180 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1743+29_1743+43del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002111882] Chr3:53189261..53189275 [GRCh38]
Chr3:53223277..53223291 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.539+13C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002188696] Chr3:53181619 [GRCh38]
Chr3:53215635 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1113A>G (p.Arg371=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002210185] Chr3:53186193 [GRCh38]
Chr3:53220209 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+13C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002126756] Chr3:53188871 [GRCh38]
Chr3:53222887 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.115+9G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002205935] Chr3:53178546 [GRCh38]
Chr3:53212562 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1743+14G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002113760] Chr3:53189260 [GRCh38]
Chr3:53223276 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1353-20T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002093033] Chr3:53187320 [GRCh38]
Chr3:53221336 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.6G>A (p.Ala2=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002193245] Chr3:53178428 [GRCh38]
Chr3:53212444 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1743+29_1743+38del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002094563] Chr3:53189266..53189275 [GRCh38]
Chr3:53223282..53223291 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+7G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002211502] Chr3:53179783 [GRCh38]
Chr3:53213799 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.597A>G (p.Lys199=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002077712] Chr3:53183146 [GRCh38]
Chr3:53217162 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+7C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002197524] Chr3:53188865 [GRCh38]
Chr3:53222881 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.986-7C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002114966] Chr3:53185920 [GRCh38]
Chr3:53219936 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.377-12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002113624] Chr3:53181432 [GRCh38]
Chr3:53215448 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1617C>T (p.Tyr539=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002187492] Chr3:53189120 [GRCh38]
Chr3:53223136 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1029G>A (p.Lys343=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002146576] Chr3:53185970 [GRCh38]
Chr3:53219986 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.115+14C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002116211] Chr3:53178551 [GRCh38]
Chr3:53212567 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.750G>A (p.Leu250=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002077526] Chr3:53183544 [GRCh38]
Chr3:53217560 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1087-12T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002174072] Chr3:53186155 [GRCh38]
Chr3:53220171 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.435C>T (p.Arg145=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002080839] Chr3:53181502 [GRCh38]
Chr3:53215518 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.271C>T (p.Leu91=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002097696] Chr3:53179732 [GRCh38]
Chr3:53213748 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1555-17G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002214583] Chr3:53189041 [GRCh38]
Chr3:53223057 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1201C>T (p.Leu401=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002115242] Chr3:53186281 [GRCh38]
Chr3:53220297 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.678C>T (p.Asn226=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002076287] Chr3:53183472 [GRCh38]
Chr3:53217488 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1167C>T (p.Asp389=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002096673] Chr3:53186247 [GRCh38]
Chr3:53220263 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1555-5G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002096865] Chr3:53189053 [GRCh38]
Chr3:53223069 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.90G>C (p.Val30=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002098194] Chr3:53178512 [GRCh38]
Chr3:53212528 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.90G>A (p.Val30=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002204124] Chr3:53178512 [GRCh38]
Chr3:53212528 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.846C>T (p.Ile282=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002138071] Chr3:53184932 [GRCh38]
Chr3:53218948 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.889-20C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002136412] Chr3:53185584 [GRCh38]
Chr3:53219600 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+8G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002158742] Chr3:53188866 [GRCh38]
Chr3:53222882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.571+15A>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002184411] Chr3:53181747 [GRCh38]
Chr3:53215763 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1260+16G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002160343] Chr3:53186356 [GRCh38]
Chr3:53220372 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.636G>A (p.Ala212=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100748] Chr3:53183185 [GRCh38]
Chr3:53217201 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.657+15G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100769] Chr3:53183221 [GRCh38]
Chr3:53217237 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.420A>G (p.Pro140=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002155084] Chr3:53181487 [GRCh38]
Chr3:53215503 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.864T>C (p.Ala288=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181930] Chr3:53184950 [GRCh38]
Chr3:53218966 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1353-4C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002160859] Chr3:53187336 [GRCh38]
Chr3:53221352 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.57C>A (p.Ala19=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002101991] Chr3:53178479 [GRCh38]
Chr3:53212495 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+16G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002100537] Chr3:53179792 [GRCh38]
Chr3:53213808 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.657+11G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002154579] Chr3:53183217 [GRCh38]
Chr3:53217233 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.540-18C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002139734] Chr3:53181683 [GRCh38]
Chr3:53215699 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.116-7G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181212] Chr3:53179570 [GRCh38]
Chr3:53213586 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1206A>G (p.Thr402=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002161753] Chr3:53186286 [GRCh38]
Chr3:53220302 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.787+15G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002181479] Chr3:53183596 [GRCh38]
Chr3:53217612 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1161C>T (p.Ile387=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002180078] Chr3:53186241 [GRCh38]
Chr3:53220257 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+11G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002137221] Chr3:53187413 [GRCh38]
Chr3:53221429 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1086+16C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002158150] Chr3:53186043 [GRCh38]
Chr3:53220059 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.177C>T (p.Phe59=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002179695] Chr3:53179638 [GRCh38]
Chr3:53213654 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002203915] Chr3:53188870 [GRCh38]
Chr3:53222886 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.787+14C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002200701] Chr3:53183595 [GRCh38]
Chr3:53217611 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.376+13T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002176567] Chr3:53181280 [GRCh38]
Chr3:53215296 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.189C>T (p.Ile63=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002138476] Chr3:53179650 [GRCh38]
Chr3:53213666 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003118067] Chr3:53189232 [GRCh38]
Chr3:53223248 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003130335] Chr3:53184904 [GRCh38]
Chr3:53218920 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.888+12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003012155] Chr3:53184986 [GRCh38]
Chr3:53219002 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3 copy number gain not provided [RCV002473863] Chr3:52783975..53418893 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1511G>T (p.Arg504Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002295627] Chr3:53188815 [GRCh38]
Chr3:53222831 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.817C>T (p.Arg273Trp) single nucleotide variant Inborn genetic diseases [RCV002687162] Chr3:53184903 [GRCh38]
Chr3:53218919 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1743+2T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002863475] Chr3:53189248 [GRCh38]
Chr3:53223264 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_006254.4(PRKCD):c.2024A>G (p.Glu675Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002837520] Chr3:53192259 [GRCh38]
Chr3:53226275 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.522G>A (p.Val174=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002903818] Chr3:53181589 [GRCh38]
Chr3:53215605 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.119G>A (p.Arg40His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002947221] Chr3:53179580 [GRCh38]
Chr3:53213596 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003017097] Chr3:53186276 [GRCh38]
Chr3:53220292 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1087-15G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002843032] Chr3:53186152 [GRCh38]
Chr3:53220168 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.658-9del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003016411] Chr3:53183439 [GRCh38]
Chr3:53217455 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003014458] Chr3:53188773 [GRCh38]
Chr3:53222789 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.663G>A (p.Gln221=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002775790] Chr3:53183457 [GRCh38]
Chr3:53217473 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1743+9C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002755456] Chr3:53189255 [GRCh38]
Chr3:53223271 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1047C>T (p.Phe349=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002726813] Chr3:53185988 [GRCh38]
Chr3:53220004 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1637C>A (p.Ser546Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002837638] Chr3:53189140 [GRCh38]
Chr3:53223156 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1805T>C (p.Phe602Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003015979] Chr3:53189934 [GRCh38]
Chr3:53223950 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1292A>G (p.Asn431Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002686364] Chr3:53186635 [GRCh38]
Chr3:53220651 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-18G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002994246] Chr3:53184856 [GRCh38]
Chr3:53218872 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.658-19G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002731515] Chr3:53183433 [GRCh38]
Chr3:53217449 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1102C>A (p.Leu368Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002904452] Chr3:53186182 [GRCh38]
Chr3:53220198 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.681C>T (p.Ile227=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003074467] Chr3:53183475 [GRCh38]
Chr3:53217491 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003075318] Chr3:53186673 [GRCh38]
Chr3:53220689 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-1G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002974924] Chr3:53184873 [GRCh38]
Chr3:53218889 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_006254.4(PRKCD):c.87C>T (p.Ala29=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002914483] Chr3:53178509 [GRCh38]
Chr3:53212525 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1059G>C (p.Lys353Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003020900] Chr3:53186000 [GRCh38]
Chr3:53220016 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1831C>A (p.Leu611Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002785608] Chr3:53189960 [GRCh38]
Chr3:53223976 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003080552] Chr3:53186245 [GRCh38]
Chr3:53220261 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002640277] Chr3:53183572 [GRCh38]
Chr3:53217588 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1260+3G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003021711] Chr3:53186343 [GRCh38]
Chr3:53220359 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.888+19G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002761078] Chr3:53184993 [GRCh38]
Chr3:53219009 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003036634] Chr3:53179602 [GRCh38]
Chr3:53213618 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.486C>T (p.Ile162=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002909657] Chr3:53181553 [GRCh38]
Chr3:53215569 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003019296] Chr3:53183474 [GRCh38]
Chr3:53217490 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.488C>T (p.Ala163Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002796672] Chr3:53181555 [GRCh38]
Chr3:53215571 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.309G>A (p.Glu103=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002868067] Chr3:53179770 [GRCh38]
Chr3:53213786 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.316-7C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002796755] Chr3:53181200 [GRCh38]
Chr3:53215216 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1555-12C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002999387] Chr3:53189046 [GRCh38]
Chr3:53223062 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.985+12T>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003080345] Chr3:53185712 [GRCh38]
Chr3:53219728 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003018335] Chr3:53187383 [GRCh38]
Chr3:53221399 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.250G>A (p.Val84Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002949632] Chr3:53179711 [GRCh38]
Chr3:53213727 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.376+12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002952581] Chr3:53181279 [GRCh38]
Chr3:53215295 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1926_1927delinsAT (p.Arg643Cys) indel Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002926978] Chr3:53192161..53192162 [GRCh38]
Chr3:53226177..53226178 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1510C>A (p.Arg504=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003018836] Chr3:53188814 [GRCh38]
Chr3:53222830 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002619386] Chr3:53181456 [GRCh38]
Chr3:53215472 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.657+8T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002756755] Chr3:53183214 [GRCh38]
Chr3:53217230 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.187A>G (p.Ile63Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003037807] Chr3:53179648 [GRCh38]
Chr3:53213664 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1083G>T (p.Gly361=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003024912] Chr3:53186024 [GRCh38]
Chr3:53220040 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.846C>A (p.Ile282=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002711134] Chr3:53184932 [GRCh38]
Chr3:53218948 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.787+3G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002959045] Chr3:53183584 [GRCh38]
Chr3:53217600 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1182del (p.Met395fs) deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003057564] Chr3:53186261 [GRCh38]
Chr3:53220277 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_006254.4(PRKCD):c.1893T>G (p.Ser631Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002828510] Chr3:53192128 [GRCh38]
Chr3:53226144 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1743+10CTGGG[5] microsatellite Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002574510] Chr3:53189255..53189256 [GRCh38]
Chr3:53223271..53223272 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1034A>T (p.Asn345Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002957929] Chr3:53185975 [GRCh38]
Chr3:53219991 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002932875] Chr3:53179727 [GRCh38]
Chr3:53213743 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.975G>A (p.Glu325=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002872045] Chr3:53185690 [GRCh38]
Chr3:53219706 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.422C>T (p.Thr141Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002890908] Chr3:53181489 [GRCh38]
Chr3:53215505 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1602C>T (p.Phe534=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003084295] Chr3:53189105 [GRCh38]
Chr3:53223121 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+17C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003023130] Chr3:53179793 [GRCh38]
Chr3:53213809 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003041144]|Inborn genetic diseases [RCV004070113] Chr3:53185982 [GRCh38]
Chr3:53219998 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-19C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003084661] Chr3:53184855 [GRCh38]
Chr3:53218871 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1170C>T (p.Asp390=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002644092] Chr3:53186250 [GRCh38]
Chr3:53220266 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1744-18G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002667250] Chr3:53189855 [GRCh38]
Chr3:53223871 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1261-14C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002572383] Chr3:53186590 [GRCh38]
Chr3:53220606 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1240A>C (p.Ile414Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002801303] Chr3:53186320 [GRCh38]
Chr3:53220336 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1233C>T (p.Thr411=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002851014] Chr3:53186313 [GRCh38]
Chr3:53220329 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.474C>T (p.Asn158=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002676519] Chr3:53181541 [GRCh38]
Chr3:53215557 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003047547] Chr3:53178452 [GRCh38]
Chr3:53212468 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1872+11C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002647838] Chr3:53190012 [GRCh38]
Chr3:53224028 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1797C>G (p.Ile599Met) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002676563] Chr3:53189926 [GRCh38]
Chr3:53223942 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1017G>A (p.Glu339=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002938104] Chr3:53185958 [GRCh38]
Chr3:53219974 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.657+14C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003062903] Chr3:53183220 [GRCh38]
Chr3:53217236 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.576T>C (p.Cys192=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002833313] Chr3:53183125 [GRCh38]
Chr3:53217141 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1510C>G (p.Arg504Gly) single nucleotide variant Inborn genetic diseases [RCV002748350] Chr3:53188814 [GRCh38]
Chr3:53222830 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.889-11T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002716197] Chr3:53185593 [GRCh38]
Chr3:53219609 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.939T>C (p.Tyr313=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002716067] Chr3:53185654 [GRCh38]
Chr3:53219670 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.889-4C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002834786] Chr3:53185600 [GRCh38]
Chr3:53219616 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.787+15G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002628716] Chr3:53183596 [GRCh38]
Chr3:53217612 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1433A>G (p.Asn478Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002806564] Chr3:53188737 [GRCh38]
Chr3:53222753 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1743+20C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003046585] Chr3:53189266 [GRCh38]
Chr3:53223282 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.105G>T (p.Ala35=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002962799] Chr3:53178527 [GRCh38]
Chr3:53212543 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002628875] Chr3:53186182 [GRCh38]
Chr3:53220198 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.151A>G (p.Met51Val) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002630440] Chr3:53179612 [GRCh38]
Chr3:53213628 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003063974] Chr3:53188805 [GRCh38]
Chr3:53222821 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.658-14A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003063988] Chr3:53183438 [GRCh38]
Chr3:53217454 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1566C>T (p.Gly522=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002720740] Chr3:53189069 [GRCh38]
Chr3:53223085 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.339G>A (p.Lys113=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002933492] Chr3:53181230 [GRCh38]
Chr3:53215246 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.376+16G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002582462] Chr3:53181283 [GRCh38]
Chr3:53215299 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.571+7G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003067203] Chr3:53181739 [GRCh38]
Chr3:53215755 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1086+17G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002605933] Chr3:53186044 [GRCh38]
Chr3:53220060 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.985+19C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003051417] Chr3:53185719 [GRCh38]
Chr3:53219735 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003067740] Chr3:53179748 [GRCh38]
Chr3:53213764 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.658-11C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003093310] Chr3:53183441 [GRCh38]
Chr3:53217457 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.201C>T (p.Arg67=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002610123] Chr3:53179662 [GRCh38]
Chr3:53213678 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1980C>T (p.Phe660=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002633798]|not provided [RCV003883889] Chr3:53192215 [GRCh38]
Chr3:53226231 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+4C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003072300] Chr3:53187406 [GRCh38]
Chr3:53221422 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1118A>G (p.Glu373Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV002610061] Chr3:53186198 [GRCh38]
Chr3:53220214 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.634G>A (p.Ala212Thr) single nucleotide variant Inborn genetic diseases [RCV003173476] Chr3:53183183 [GRCh38]
Chr3:53217199 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.93G>C (p.Lys31Asn) single nucleotide variant Inborn genetic diseases [RCV003190549] Chr3:53178515 [GRCh38]
Chr3:53212531 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.995G>A (p.Gly332Glu) single nucleotide variant Inborn genetic diseases [RCV003212158] Chr3:53185936 [GRCh38]
Chr3:53219952 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.315+30_315+31insCGTG insertion not specified [RCV003397150] Chr3:53179803..53179804 [GRCh38]
Chr3:53213819..53213820 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+38_315+39insGGTG insertion not specified [RCV003489006] Chr3:53179811..53179812 [GRCh38]
Chr3:53213827..53213828 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+24GT[11] microsatellite not specified [RCV003397071] Chr3:53179799..53179800 [GRCh38]
Chr3:53213815..53213816 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+34_315+35insCGTG insertion not specified [RCV003397152] Chr3:53179807..53179808 [GRCh38]
Chr3:53213823..53213824 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+32_315+33insGGTG insertion not specified [RCV003397091] Chr3:53179805..53179806 [GRCh38]
Chr3:53213821..53213822 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+30_315+31insGGTG insertion not specified [RCV003397090] Chr3:53179803..53179804 [GRCh38]
Chr3:53213819..53213820 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+40_315+41insCGTG insertion not specified [RCV003397154] Chr3:53179813..53179814 [GRCh38]
Chr3:53213829..53213830 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+34_315+35insGGTG insertion not specified [RCV003397131] Chr3:53179807..53179808 [GRCh38]
Chr3:53213823..53213824 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+32_315+33insCGTG insertion not specified [RCV003397151] Chr3:53179805..53179806 [GRCh38]
Chr3:53213821..53213822 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+36_315+37insCGTG insertion not specified [RCV003397153] Chr3:53179809..53179810 [GRCh38]
Chr3:53213825..53213826 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+42_315+43insGGTG insertion not specified [RCV003397155] Chr3:53179815..53179816 [GRCh38]
Chr3:53213831..53213832 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+37_315+38insTTGT insertion not specified [RCV003397161] Chr3:53179810..53179811 [GRCh38]
Chr3:53213826..53213827 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1744-20G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877637] Chr3:53189853 [GRCh38]
Chr3:53223869 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1881C>T (p.Pro627=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877107] Chr3:53192116 [GRCh38]
Chr3:53226132 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.360T>C (p.Tyr120=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003827934] Chr3:53181251 [GRCh38]
Chr3:53215267 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+28_315+29insGGTG insertion not specified [RCV003489014] Chr3:53179801..53179802 [GRCh38]
Chr3:53213817..53213818 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.315+36_315+37insGGTG insertion not specified [RCV003489090] Chr3:53179809..53179810 [GRCh38]
Chr3:53213825..53213826 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.423G>A (p.Thr141=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877983] Chr3:53181490 [GRCh38]
Chr3:53215506 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1331G>A (p.Arg444His) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003828055] Chr3:53186674 [GRCh38]
Chr3:53220690 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1641C>G (p.Pro547=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003877990] Chr3:53189144 [GRCh38]
Chr3:53223160 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+43_315+44insGTCT insertion not specified [RCV003488892] Chr3:53179818..53179819 [GRCh38]
Chr3:53213834..53213835 [GRCh37]
Chr3:3p21.1		 benign
NM_006254.4(PRKCD):c.1080C>T (p.Phe360=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745137] Chr3:53186021 [GRCh38]
Chr3:53220037 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.171G>A (p.Ser57=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745071] Chr3:53179632 [GRCh38]
Chr3:53213648 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.571+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745147] Chr3:53181733 [GRCh38]
Chr3:53215749 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_006254.4(PRKCD):c.1164C>T (p.Asp388=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743502] Chr3:53186244 [GRCh38]
Chr3:53220260 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.540-17T>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744162] Chr3:53181684 [GRCh38]
Chr3:53215700 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1332C>A (p.Arg444=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744248] Chr3:53186675 [GRCh38]
Chr3:53220691 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1872+13G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745267] Chr3:53190014 [GRCh38]
Chr3:53224030 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1917C>T (p.Asn639=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003813970] Chr3:53192152 [GRCh38]
Chr3:53226168 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1086+20C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743325] Chr3:53186047 [GRCh38]
Chr3:53220063 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.571+15A>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745698] Chr3:53181747 [GRCh38]
Chr3:53215763 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743404] Chr3:53181724 [GRCh38]
Chr3:53215740 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.788-3C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743460] Chr3:53184871 [GRCh38]
Chr3:53218887 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.540-9G>C single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745789] Chr3:53181692 [GRCh38]
Chr3:53215708 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1053C>T (p.Phe351=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583296] Chr3:53185994 [GRCh38]
Chr3:53220010 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.657+10G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745829] Chr3:53183216 [GRCh38]
Chr3:53217232 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.571+17G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583261] Chr3:53181749 [GRCh38]
Chr3:53215765 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.69G>A (p.Ala23=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743080] Chr3:53178491 [GRCh38]
Chr3:53212507 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.376+15G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583953] Chr3:53181282 [GRCh38]
Chr3:53215298 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.343T>C (p.Leu115=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583620] Chr3:53181234 [GRCh38]
Chr3:53215250 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+8G>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743403] Chr3:53179784 [GRCh38]
Chr3:53213800 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.771G>A (p.Gln257=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583351] Chr3:53183565 [GRCh38]
Chr3:53217581 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.315+13C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003817647] Chr3:53179789 [GRCh38]
Chr3:53213805 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1873-20C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003744080] Chr3:53192088 [GRCh38]
Chr3:53226104 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1415+5G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583430] Chr3:53187407 [GRCh38]
Chr3:53221423 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.116-17G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743131] Chr3:53179560 [GRCh38]
Chr3:53213576 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1077C>T (p.Ser359=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003838076] Chr3:53186018 [GRCh38]
Chr3:53220034 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1944C>T (p.Asp648=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583556] Chr3:53192179 [GRCh38]
Chr3:53226195 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1555-14C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743228] Chr3:53189044 [GRCh38]
Chr3:53223060 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1353-16C>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003832982] Chr3:53187324 [GRCh38]
Chr3:53221340 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1086+16_1086+26del deletion Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743328] Chr3:53186041..53186051 [GRCh38]
Chr3:53220057..53220067 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1873-19C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583588] Chr3:53192089 [GRCh38]
Chr3:53226105 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1087-15G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745266] Chr3:53186152 [GRCh38]
Chr3:53220168 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.2001C>T (p.Asn667=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745743] Chr3:53192236 [GRCh38]
Chr3:53226252 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.986-12T>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583245] Chr3:53185915 [GRCh38]
Chr3:53219931 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1515C>T (p.Ala505=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745828] Chr3:53188819 [GRCh38]
Chr3:53222835 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.804G>A (p.Val268=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745875] Chr3:53184890 [GRCh38]
Chr3:53218906 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583903] Chr3:53185966 [GRCh38]
Chr3:53219982 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583433] Chr3:53186260 [GRCh38]
Chr3:53220276 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003743412] Chr3:53186293 [GRCh38]
Chr3:53220309 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1569G>A (p.Leu523=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745814] Chr3:53189072 [GRCh38]
Chr3:53223088 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1554+14C>G single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745872] Chr3:53188872 [GRCh38]
Chr3:53222888 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.618C>T (p.Gly206=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003813734] Chr3:53183167 [GRCh38]
Chr3:53217183 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1353-11C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003583558] Chr3:53187329 [GRCh38]
Chr3:53221345 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1087-16C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003866274] Chr3:53186151 [GRCh38]
Chr3:53220167 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.788-12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003843411] Chr3:53184862 [GRCh38]
Chr3:53218878 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_006254.4(PRKCD):c.315+18C>T single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003842396] Chr3:53179794 [GRCh38]
Chr3:53213810 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.539+16G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003745952] Chr3:53181622 [GRCh38]
Chr3:53215638 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.985+18G>A single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003853129] Chr3:53185718 [GRCh38]
Chr3:53219734 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1260+19_1260+34dup duplication Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003857181] Chr3:53186354..53186355 [GRCh38]
Chr3:53220370..53220371 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.1776A>C (p.Gly592=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003821055] Chr3:53189905 [GRCh38]
Chr3:53223921 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.660C>T (p.Phe220=) single nucleotide variant Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD [RCV003866635] Chr3:53183454 [GRCh38]
Chr3:53217470 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.332A>G (p.Gln111Arg) single nucleotide variant Inborn genetic diseases [RCV004515141] Chr3:53181223 [GRCh38]
Chr3:53215239 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.348G>A (p.Met116Ile) single nucleotide variant Inborn genetic diseases [RCV004515142] Chr3:53181239 [GRCh38]
Chr3:53215255 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.965T>G (p.Val322Gly) single nucleotide variant Inborn genetic diseases [RCV004515144] Chr3:53185680 [GRCh38]
Chr3:53219696 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.1614G>A (p.Leu538=) single nucleotide variant PRKCD-related condition [RCV003983574] Chr3:53189117 [GRCh38]
Chr3:53223133 [GRCh37]
Chr3:3p21.1		 likely benign
NM_006254.4(PRKCD):c.413A>G (p.Lys138Arg) single nucleotide variant Inborn genetic diseases [RCV004515143] Chr3:53181480 [GRCh38]
Chr3:53215496 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_006254.4(PRKCD):c.495C>T (p.Phe165=) single nucleotide variant PRKCD-related condition [RCV003947349] Chr3:53181562 [GRCh38]
Chr3:53215578 [GRCh37]
Chr3:3p21.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1861
Count of miRNA genes:831
Interacting mature miRNAs:992
Transcripts:ENST00000330452, ENST00000394729, ENST00000464818, ENST00000477794, ENST00000478843, ENST00000487897
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH119270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,187,311 - 53,187,601UniSTSGRCh37
Build 36353,162,351 - 53,162,641RGDNCBI36
Celera353,154,334 - 53,154,624RGD
Cytogenetic Map3p21.31UniSTS
HuRef353,236,636 - 53,236,926UniSTS
TNG Radiation Hybrid Map333104.0UniSTS
D2S2845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,226,338 - 53,226,505UniSTSGRCh37
Build 36353,201,378 - 53,201,545RGDNCBI36
Celera353,193,360 - 53,193,527RGD
Cytogenetic Map3p21.31UniSTS
HuRef353,275,630 - 53,275,797UniSTS
RH12466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,226,464 - 53,226,625UniSTSGRCh37
Build 36353,201,504 - 53,201,665RGDNCBI36
Celera353,193,486 - 53,193,647RGD
Cytogenetic Map3p21.31UniSTS
HuRef353,275,756 - 53,275,917UniSTS
GeneMap99-GB4 RH Map3164.74UniSTS
A007D36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,226,574 - 53,226,727UniSTSGRCh37
Build 36353,201,614 - 53,201,767RGDNCBI36
Celera353,193,596 - 53,193,750RGD
Cytogenetic Map3p21.31UniSTS
HuRef353,275,866 - 53,276,020UniSTS
GeneMap99-GB4 RH Map3161.8UniSTS
PRKCD_2760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37353,226,081 - 53,226,504UniSTSGRCh37
Build 36353,201,121 - 53,201,544RGDNCBI36
Celera353,193,103 - 53,193,526RGD
HuRef353,275,373 - 53,275,796UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2281 2496 1314 298 1911 141 3589 983 2143 398 1432 1581 168 1204 2022 3
Low 158 495 411 326 38 324 768 1214 1586 21 26 32 5 766 1 2
Below cutoff 1 1 5 1 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW293041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE048101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD369320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ516383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB775496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000330452   ⟹   ENSP00000331602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,209 - 53,192,717 (+)Ensembl
RefSeq Acc Id: ENST00000394729   ⟹   ENSP00000378217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,120 - 53,192,717 (+)Ensembl
RefSeq Acc Id: ENST00000464818   ⟹   ENSP00000419629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,165,129 - 53,184,973 (+)Ensembl
RefSeq Acc Id: ENST00000477794   ⟹   ENSP00000498857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,241 - 53,178,537 (+)Ensembl
RefSeq Acc Id: ENST00000478843   ⟹   ENSP00000419726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,156,009 - 53,179,694 (+)Ensembl
RefSeq Acc Id: ENST00000487897   ⟹   ENSP00000418106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,521 - 53,181,267 (+)Ensembl
RefSeq Acc Id: ENST00000650739   ⟹   ENSP00000498623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,356 - 53,192,558 (+)Ensembl
RefSeq Acc Id: ENST00000650940   ⟹   ENSP00000499184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,168,741 - 53,184,971 (+)Ensembl
RefSeq Acc Id: ENST00000651505   ⟹   ENSP00000498262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,181,260 - 53,192,577 (+)Ensembl
RefSeq Acc Id: ENST00000652449   ⟹   ENSP00000498400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,217 - 53,192,487 (+)Ensembl
RefSeq Acc Id: ENST00000654719   ⟹   ENSP00000499558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,168,797 - 53,192,454 (+)Ensembl
RefSeq Acc Id: ENST00000697588   ⟹   ENSP00000513355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,161,526 - 53,192,622 (+)Ensembl
RefSeq Acc Id: ENST00000697589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,182,546 - 53,192,677 (+)Ensembl
RefSeq Acc Id: ENST00000697590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl353,188,306 - 53,192,622 (+)Ensembl
RefSeq Acc Id: NM_001316327   ⟹   NP_001303256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,507 - 53,192,717 (+)NCBI
CHM1_1353,147,110 - 53,178,291 (+)NCBI
T2T-CHM13v2.0353,194,417 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354676   ⟹   NP_001341605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,168,703 - 53,192,717 (+)NCBI
T2T-CHM13v2.0353,201,611 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354678   ⟹   NP_001341607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,168,703 - 53,192,717 (+)NCBI
T2T-CHM13v2.0353,201,611 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354679   ⟹   NP_001341608
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,209 - 53,192,717 (+)NCBI
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354680   ⟹   NP_001341609
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,209 - 53,192,717 (+)NCBI
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006254   ⟹   NP_006245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,209 - 53,192,717 (+)NCBI
GRCh37353,195,223 - 53,226,733 (+)ENTREZGENE
Build 36353,170,263 - 53,201,773 (+)NCBI Archive
HuRef353,210,511 - 53,276,026 (+)ENTREZGENE
CHM1_1353,146,796 - 53,178,291 (+)NCBI
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: NM_212539   ⟹   NP_997704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,209 - 53,192,717 (+)NCBI
GRCh37353,195,223 - 53,226,733 (+)ENTREZGENE
Build 36353,170,263 - 53,201,773 (+)NCBI Archive
HuRef353,210,511 - 53,276,026 (+)ENTREZGENE
CHM1_1353,146,796 - 53,178,291 (+)NCBI
T2T-CHM13v2.0353,194,119 - 53,225,596 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448564   ⟹   XP_047304520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,162,482 - 53,192,717 (+)NCBI
RefSeq Acc Id: XR_007095706
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,168,703 - 53,186,693 (+)NCBI
RefSeq Acc Id: XR_008486749
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0353,201,611 - 53,219,599 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006245   ⟸   NM_006254
- Peptide Label: isoform c
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997704   ⟸   NM_212539
- Peptide Label: isoform c
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001303256   ⟸   NM_001316327
- Peptide Label: isoform c
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341609   ⟸   NM_001354680
- Peptide Label: isoform c
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot),   B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341608   ⟸   NM_001354679
- Peptide Label: isoform c
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot),   B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341605   ⟸   NM_001354676
- Peptide Label: isoform a
- UniProtKB: B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341607   ⟸   NM_001354678
- Peptide Label: isoform b
- UniProtKB: B4DFV1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498857   ⟸   ENST00000477794
RefSeq Acc Id: ENSP00000419629   ⟸   ENST00000464818
RefSeq Acc Id: ENSP00000419726   ⟸   ENST00000478843
RefSeq Acc Id: ENSP00000499184   ⟸   ENST00000650940
RefSeq Acc Id: ENSP00000498623   ⟸   ENST00000650739
RefSeq Acc Id: ENSP00000498262   ⟸   ENST00000651505
RefSeq Acc Id: ENSP00000498400   ⟸   ENST00000652449
RefSeq Acc Id: ENSP00000499558   ⟸   ENST00000654719
RefSeq Acc Id: ENSP00000418106   ⟸   ENST00000487897
RefSeq Acc Id: ENSP00000378217   ⟸   ENST00000394729
RefSeq Acc Id: ENSP00000331602   ⟸   ENST00000330452
RefSeq Acc Id: XP_047304520   ⟸   XM_047448564
- Peptide Label: isoform X1
- UniProtKB: Q15144 (UniProtKB/Swiss-Prot),   Q05655 (UniProtKB/Swiss-Prot),   B2R834 (UniProtKB/Swiss-Prot),   B0KZ81 (UniProtKB/Swiss-Prot),   Q86XJ6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000513355   ⟸   ENST00000697588
Protein Domains
AGC-kinase C-terminal   C2   Phorbol-ester/DAG-type   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05655-F1-model_v2 AlphaFold Q05655 1-676 view protein structure

Promoters
RGD ID:6864732
Promoter ID:EPDNEW_H5531
Type:initiation region
Name:PRKCD_1
Description:protein kinase C delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,161,217 - 53,161,277EPDNEW
RGD ID:6864734
Promoter ID:EPDNEW_H5532
Type:initiation region
Name:PRKCD_2
Description:protein kinase C delta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5531  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38353,168,741 - 53,168,801EPDNEW
RGD ID:6801451
Promoter ID:HG_KWN:45281
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257818,   OTTHUMT00000257819,   OTTHUMT00000257820
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,170,099 - 53,170,599 (+)MPROMDB
RGD ID:6812371
Promoter ID:HG_ACW:54052
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:PRKCD.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,177,239 - 53,177,739 (+)MPROMDB
RGD ID:6801450
Promoter ID:HG_KWN:45282
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000394727,   UC003DGN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,188,591 - 53,189,091 (+)MPROMDB
RGD ID:6815450
Promoter ID:HG_MRA:11072
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK130150
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,189,626 - 53,190,126 (+)MPROMDB
RGD ID:6801453
Promoter ID:HG_KWN:45283
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010HMT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,191,811 - 53,192,837 (+)MPROMDB
RGD ID:6812372
Promoter ID:HG_ACW:54054
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:PRKCD.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,194,816 - 53,195,316 (+)MPROMDB
RGD ID:6812373
Promoter ID:HG_ACW:54055
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:PRKCD.FAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36353,195,376 - 53,197,477 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9399 AgrOrtholog
COSMIC PRKCD COSMIC
Ensembl Genes ENSG00000163932 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330452 ENTREZGENE
  ENST00000330452.8 UniProtKB/Swiss-Prot
  ENST00000394729 ENTREZGENE
  ENST00000394729.6 UniProtKB/Swiss-Prot
  ENST00000464818.1 UniProtKB/TrEMBL
  ENST00000477794.2 UniProtKB/TrEMBL
  ENST00000478843.5 UniProtKB/TrEMBL
  ENST00000487897.5 UniProtKB/TrEMBL
  ENST00000650739 ENTREZGENE
  ENST00000650739.1 UniProtKB/Swiss-Prot
  ENST00000650940.1 UniProtKB/TrEMBL
  ENST00000651505.1 UniProtKB/TrEMBL
  ENST00000652449 ENTREZGENE
  ENST00000652449.1 UniProtKB/Swiss-Prot
  ENST00000654719.1 UniProtKB/Swiss-Prot
  ENST00000697588.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163932 GTEx
HGNC ID HGNC:9399 ENTREZGENE
Human Proteome Map PRKCD Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAG/PE-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  nPKC_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKC_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kin_PKC_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5580 ENTREZGENE
OMIM 176977 OMIM
PANTHER PROTEIN KINASE C UniProtKB/TrEMBL
  PROTEIN KINASE C DELTA TYPE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN KINASE C, MU UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKC_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33763 PharmGKB
PIRSF PKC_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kin_C_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS DAGPEDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494BZX2_HUMAN UniProtKB/TrEMBL
  A0A494C125_HUMAN UniProtKB/TrEMBL
  A0A494C1T7_HUMAN UniProtKB/TrEMBL
  A0A8V8TMH8_HUMAN UniProtKB/TrEMBL
  B0KZ81 ENTREZGENE
  B2R834 ENTREZGENE
  B4DFV1 ENTREZGENE, UniProtKB/TrEMBL
  C9J9P1_HUMAN UniProtKB/TrEMBL
  C9JZU8_HUMAN UniProtKB/TrEMBL
  C9K0E3_HUMAN UniProtKB/TrEMBL
  KPCD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15144 ENTREZGENE
  Q86XJ6 ENTREZGENE
UniProt Secondary B0KZ81 UniProtKB/Swiss-Prot
  B2R834 UniProtKB/Swiss-Prot
  Q15144 UniProtKB/Swiss-Prot
  Q86XJ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PRKCD  protein kinase C delta  PRKCD  protein kinase C, delta  Symbol and/or name change 5135510 APPROVED