PDGFRA (platelet derived growth factor receptor alpha) - Rat Genome Database

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Gene: PDGFRA (platelet derived growth factor receptor alpha) Homo sapiens
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Symbol: PDGFRA
Name: platelet derived growth factor receptor alpha
RGD ID: 730916
HGNC Page HGNC:8803
Description: Enables several functions, including growth factor binding activity; platelet-derived growth factor receptor binding activity; and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including platelet aggregation; platelet-derived growth factor receptor signaling pathway; and positive regulation of intracellular signal transduction. Acts upstream of or within cellular response to reactive oxygen species. Located in cell junction; nucleoplasm; and plasma membrane. Part of protein-containing complex. Implicated in hematologic cancer (multiple); hypereosinophilic syndrome; and pancreatic cancer. Biomarker of several diseases, including craniopharyngioma; infratentorial cancer (multiple); renal cell carcinoma; reproductive organ cancer (multiple); and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha platelet-derived growth factor receptor; alpha-type platelet-derived growth factor receptor; CD140 antigen-like family member A; CD140A; CD140a antigen; GAS9; MGC74795; PDGF-R-alpha; PDGFR-2; PDGFR-alpha; PDGFR2; PDGFRA/BCR fusion; platelet-derived growth factor alpha receptor; platelet-derived growth factor receptor 2; platelet-derived growth factor receptor alpha; platelet-derived growth factor receptor, alpha polypeptide; rearranged-in-hypereosinophilia-platelet derived growth factor receptor alpha fusion protein; RHEPDGFRA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38454,229,293 - 54,298,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl454,229,280 - 54,298,245 (+)EnsemblGRCh38hg38GRCh38
GRCh37455,095,460 - 55,164,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36454,790,204 - 54,859,169 (+)NCBINCBI36Build 36hg18NCBI36
Build 34454,936,129 - 55,005,339NCBI
Celera452,596,023 - 52,665,170 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef451,043,324 - 51,112,555 (+)NCBIHuRef
CHM1_1455,130,846 - 55,199,987 (+)NCBICHM1_1
T2T-CHM13v2.0457,718,046 - 57,786,996 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
B-lymphoblastic leukemia/lymphoma  (ISO)
Brain Injuries  (ISO)
brain stem glioma  (IEP)
breast carcinoma  (IEP)
Chronic Allograft Nephropathy  (ISO)
chronic ulcer of skin  (ISO)
cleft palate  (EXP,IAGP)
colon carcinoma  (IAGP)
congenital diaphragmatic hernia  (ISS)
congenital disorder of glycosylation type IIk  (IAGP)
congestive heart failure  (EXP)
Craniofacial Abnormalities  (EXP)
craniopharyngioma  (IEP)
Diabetic Nephropathies  (IEP)
Endometrioid Carcinomas  (IEP)
Eosinophilia  (IAGP)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Colitis  (ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
Fetal Death  (EXP)
gastrointestinal stromal tumor  (EXP,IAGP)
genetic disease  (IAGP)
Germ Cell and Embryonal Neoplasms  (IEP)
Hereditary Neoplastic Syndromes  (IAGP)
hypereosinophilic syndrome  (EXP,IAGP)
Hyperoxia  (ISO)
hypertension  (ISO)
in situ carcinoma  (IEP)
isolated cleft palate  (IAGP)
Kidney Reperfusion Injury  (ISO)
leukemia  (IMP)
Leydig cell tumor  (IEP)
lung disease  (EXP)
lung sarcomatoid carcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
medulloblastoma  (EXP,IEP)
melanoma  (IAGP)
mesenchymal chondrosarcoma  (EXP)
middle cerebral artery infarction  (ISO)
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal  (IAGP)
myeloid leukemia  (IMP)
myeloid sarcoma  (IMP)
myeloproliferative neoplasm  (IAGP)
Neointima  (ISO)
oligohydramnios  (ISO)
ovarian cancer  (IAGP)
Ovarian Neoplasms  (IEP)
pancreatic cancer  (IEP,IMP)
Pdgfra-Associated Chronic Eosinophilic Leukemia  (IAGP)
prostate adenocarcinoma  (IEP)
pulmonary fibrosis  (ISO)
renal cell carcinoma  (IEP)
Respiratory System Abnormalities  (EXP)
sciatic neuropathy  (ISO)
scimitar syndrome  (ISS)
seminoma  (IEP)
spina bifida  (EXP)
Stroke  (ISO)
T-cell acute lymphoblastic leukemia  (IMP)
Uterine Neoplasms  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldrin  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbofuran  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDD  (EXP)
DDE  (EXP)
DDT  (ISO)
dermatan sulfate  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
divanadium pentaoxide  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP,ISO)
fulvestrant  (EXP)
furan  (ISO)
furosemide  (ISO)
genistein  (EXP,ISO)
heparin  (EXP)
hydrogen peroxide  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
iron dichloride  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
maneb  (ISO)
masitinib  (EXP)
melatonin  (ISO)
methamphetamine  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (ISO)
okadaic acid  (ISO)
oxycodone  (ISO)
ozone  (ISO)
p-toluidine  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
ponatinib  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
protein kinase inhibitor  (EXP)
quercetin  (ISO)
raloxifene  (EXP)
remdesivir  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium chloride  (EXP)
sorafenib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vismodegib  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (IEA,ISO)
anatomical structure morphogenesis  (IEA,ISO)
animal organ morphogenesis  (IEA,ISO)
cardiac myofibril assembly  (IEA,ISS)
cell activation  (TAS)
cell chemotaxis  (IEA,IMP)
cell migration  (IEA)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA)
cellular response to amino acid stimulus  (IEA,ISO)
cellular response to fibroblast growth factor stimulus  (ISO)
cellular response to growth factor stimulus  (IEA)
cellular response to interleukin-1  (ISO)
cellular response to reactive oxygen species  (IDA)
chemotaxis  (IEA)
embryonic cranial skeleton morphogenesis  (IBA,IEA,ISS)
embryonic digestive tract morphogenesis  (IEA,ISS)
embryonic skeletal system morphogenesis  (ISS)
estrogen metabolic process  (IEA,ISO)
extracellular matrix organization  (IEA,ISO)
face morphogenesis  (IEA,ISO)
female gonad development  (IEA,ISO)
hematopoietic progenitor cell differentiation  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
inner ear development  (ISO)
Leydig cell differentiation  (IEA,ISO)
lung development  (IEA,ISO)
lung growth  (ISO)
luteinization  (IEA,ISO,ISS)
male genitalia development  (IEA,ISO)
male gonad development  (ISO)
metanephric glomerular capillary formation  (IEA,ISS)
negative regulation of platelet activation  (IDA)
odontogenesis of dentin-containing tooth  (IEA,ISO)
platelet aggregation  (IMP)
platelet-derived growth factor receptor signaling pathway  (IDA,IEA,ISO)
platelet-derived growth factor receptor-alpha signaling pathway  (IEA,IMP)
positive regulation of branching involved in lung morphogenesis  (ISO)
positive regulation of calcium-mediated signaling  (IMP)
positive regulation of cell migration  (IDA,IMP)
positive regulation of cell population proliferation  (IDA,IMP,ISO)
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway  (IDA)
positive regulation of chemotaxis  (IMP)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of fibroblast proliferation  (IDA)
positive regulation of peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP,TAS)
regulation of actin cytoskeleton organization  (TAS)
regulation of mesenchymal stem cell differentiation  (IMP)
response to cytokine  (ISO)
response to estradiol  (ISO)
response to estrogen  (ISO)
response to formaldehyde  (ISO)
response to hormone  (ISO)
response to hyperoxia  (ISO)
response to inorganic substance  (ISO)
response to organic substance  (ISO)
retina vasculature development in camera-type eye  (IEA,ISS)
roof of mouth development  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISO)
skeletal system morphogenesis  (IEA,ISO)
white fat cell differentiation  (IEA,ISO)
wound healing  (IEA,ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal number of permanent teeth  (IAGP)
Abnormality of dental eruption  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the nervous system  (IAGP)
Agenesis of lateral incisor  (IAGP)
Anemia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral cleft palate  (IAGP)
Chronic leukemia  (IAGP)
Cleft palate  (IAGP)
Colon cancer  (IAGP)
Conductive hearing impairment  (IAGP)
Constipation  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Dysphagia  (IAGP)
Endocardial fibrosis  (IAGP)
Eosinophilia  (IAGP)
Esophageal neoplasm  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Hepatomegaly  (IAGP)
Hypernasal speech  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Intussusception  (IAGP)
Irregular hyperpigmentation  (IAGP)
Malnutrition  (IAGP)
Melanoma  (IAGP)
Myalgia  (IAGP)
Myeloproliferative disorder  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the gastrointestinal tract  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the small intestine  (IAGP)
Neoplasm of the stomach  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Orofacial cleft  (IAGP)
Ovarian neoplasm  (IAGP)
Palate fistula  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Poor suck  (IAGP)
Pruritus  (IAGP)
Pulmonary infiltrates  (IAGP)
Recurrent otitis media  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Sarcoma  (IAGP)
Skin rash  (IAGP)
Speech articulation difficulties  (IAGP)
Splenomegaly  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Typified by somatic mosaicism  (IAGP)
Unilateral cleft palate  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Venous thrombosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Transgenic expression of osteoactivin in the liver attenuates hepatic fibrosis in rats. Abe H, etal., Biochem Biophys Res Commun. 2007 May 11;356(3):610-5. Epub 2007 Mar 15.
2. Stimulated activation of platelet-derived growth factor receptor in vivo in balloon-injured arteries: a link between angiotensin II and intimal thickening. Abe J, etal., Circulation. 1997 Sep 16;96(6):1906-13.
3. PDGFR-alpha as a potential therapeutic target in uterine sarcomas. Adams SF, etal., Gynecol Oncol. 2007 Mar;104(3):524-8. Epub 2006 Oct 17.
4. Response to imatinib mesylate in patients with hypereosinophilic syndrome. Arefi M, etal., Int J Hematol. 2012 Sep;96(3):320-6. doi: 10.1007/s12185-012-1141-7. Epub 2012 Jul 18.
5. Nilotinib-mediated mucosal healing in a rat model of colitis. Ataca P, etal., World J Gastroenterol. 2013 Oct 7;19(37):6237-44. doi: 10.3748/wjg.v19.i37.6237.
6. Expression of platelet-derived growth factor-A (PDGF-A), PDGF-B, and PDGF receptor-alpha and -beta during human testicular development and disease. Basciani S, etal., J Clin Endocrinol Metab. 2002 May;87(5):2310-9.
7. Preclinical evaluation of radiation and perifosine in a genetically and histologically accurate model of brainstem glioma. Becher OJ, etal., Cancer Res. 2010 Mar 15;70(6):2548-57. doi: 10.1158/0008-5472.CAN-09-2503. Epub 2010 Mar 2.
8. Induction of PDGF receptor-alpha in rat myofibroblasts during pulmonary fibrogenesis in vivo. Bonner JC, etal., Am J Physiol. 1998 Jan;274(1 Pt 1):L72-80.
9. [The expression of platelet-derived growth factor-A and its receptor in acute radiation-induced skin ulcer in rats] Cao WH, etal., Zhonghua Shao Shang Za Zhi. 2005 Oct;21(5):359-62.
10. Oligohydramnios decreases platelet-derived growth factor expression in fetal rat lungs. Chen CM, etal., Neonatology. 2007;92(3):187-93. Epub 2007 May 21.
11. Temporal changes in gene expression following cryogenic rat brain injury. Cook JL, etal., Brain Res Mol Brain Res. 1998 Mar 30;55(1):9-19.
12. The EOL-1 cell line as an in vitro model for the study of FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Cools J, etal., Blood. 2004 Apr 1;103(7):2802-5. Epub 2003 Nov 20.
13. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. Cools J, etal., N Engl J Med. 2003 Mar 27;348(13):1201-14.
14. A high-potassium diet reduces infarct size and improves vascular structure in hypertensive rats. Dorrance AM, etal., Am J Physiol Regul Integr Comp Physiol. 2007 Jan;292(1):R415-22. Epub 2006 Aug 17.
15. Induction of platelet-derived growth factor A and B chains and over-expression of their receptors in human pancreatic cancer. Ebert M, etal., Int J Cancer. 1995 Sep 4;62(5):529-35.
16. Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. Elling C, etal., Blood. 2011 Mar 10;117(10):2935-43. doi: 10.1182/blood-2010-05-286757. Epub 2011 Jan 11.
17. Immunohistochemistry analysis of platelet-derived growth factor A and B chains and platelet-derived growth factor alpha and beta receptor expression in benign prostatic hyperplasias and Gleason-graded human prostate adenocarcinomas. Fudge K, etal., Mod Pathol. 1994 Jun;7(5):549-54.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. Expression and prognostic significance of platelet-derived growth factor and its receptors in epithelial ovarian neoplasms. Henriksen R, etal., Cancer Res. 1993 Oct 1;53(19):4550-4.
20. Inhibition of platelet-derived growth factor receptor phosphorylation by STI571 (Gleevec) reduces growth and metastasis of human pancreatic carcinoma in an orthotopic nude mouse model. Hwang RF, etal., Clin Cancer Res. 2003 Dec 15;9(17):6534-44.
21. A role for platelet-derived growth factor beta-receptor in a newborn rat model of endothelin-mediated pulmonary vascular remodeling. Jankov RP, etal., Am J Physiol Lung Cell Mol Physiol. 2005 Jun;288(6):L1162-70. Epub 2005 Feb 18.
22. Autocrine PDGFR signaling promotes mammary cancer metastasis. Jechlinger M, etal., J Clin Invest. 2006 Jun;116(6):1561-70.
23. Autoantigen-pulsed dendritic cells constitute a beneficial cytokine and growth factor network in ameliorating experimental allergic encephalomyelitis. Liu X, etal., Mult Scler. 2005 Aug;11(4):381-9.
24. PDGF-alpha receptor expression following hypoxic-ischemic injury in the neonatal rat brain. Morioka I, etal., Kobe J Med Sci. 2004 Jan;50(1-2):21-30.
25. Aberrant platelet-derived growth factor alpha-receptor transcript as a diagnostic marker for early human germ cell tumors of the adult testis. Mosselman S, etal., Proc Natl Acad Sci U S A. 1996 Apr 2;93(7):2884-8.
26. Role of PDGF B-chain and PDGF receptors in rat tubular regeneration after acute injury. Nakagawa T, etal., Am J Pathol. 1999 Nov;155(5):1689-99.
27. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
28. Expression of the PDGF alpha-receptor 1.5 kb transcript, OCT-4, and c-KIT in human normal and malignant tissues. Implications for the early diagnosis of testicular germ cell tumours and for our understanding of regulatory mechanisms. Palumbo C, etal., J Pathol. 2002 Apr;196(4):467-77.
29. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Pardanani A, etal., Blood. 2004 Nov 15;104(10):3038-45. Epub 2004 Jul 29.
30. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
31. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
32. [Characteristics of cytogenetics and molecular biology in patients with eosinophilia]. Qu SQ, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1216-20.
33. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
35. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. Effects of hypertension and aging on platelet-derived growth factor and platelet-derived growth factor receptor expression in rat aorta and heart. Sarzani R, etal., Hypertension. 1991 Nov;18(5 Suppl):III93-9.
37. The effect of acute rejection and cyclosporin A-treatment on induction of platelet-derived growth factor and its receptors during the development of chronic rat renal allograft rejection. Savikko J, etal., Transplantation. 2002 Feb 27;73(4):506-11.
38. Expression of platelet-derived growth factor-alpha alpha receptor is associated with tumor progression in clear cell renal cell carcinoma. Sulzbacher I, etal., Am J Clin Pathol. 2003 Jul;120(1):107-12.
39. Expression of angiogenic factors in craniopharyngiomas: implications for tumor recurrence. Sun HI, etal., Neurosurgery. 2010 Apr;66(4):744-50; discussion 750. doi: 10.1227/01.NEU.0000367553.65099.14.
40. Hes1 upregulation contributes to the development of FIP1L1-PDGRA-positive leukemia in blast crisis. Uchida T, etal., Exp Hematol. 2014 May;42(5):369-379.e3. doi: 10.1016/j.exphem.2014.01.009. Epub 2014 Jan 31.
41. A microRNA-1280/JAG2 network comprises a novel biological target in high-risk medulloblastoma. Wang F, etal., Oncotarget. 2015 Feb 20;6(5):2709-24. doi: 10.18632/oncotarget.2779.
42. Nilotinib and imatinib are comparably effective in reducing growth of human eosinophil leukemia cells in a newly established xenograft model. Wicklein D, etal., PLoS One. 2012;7(2):e30567. doi: 10.1371/journal.pone.0030567. Epub 2012 Feb 14.
43. Expression and mutational analysis of tyrosine kinase receptors c-kit, PDGFRalpha, and PDGFRbeta in ovarian cancers. Wilczynski SP, etal., Hum Pathol. 2005 Mar;36(3):242-9.
44. Cyclin-dependent kinase 7/9 inhibitor SNS-032 abrogates FIP1-like-1 platelet-derived growth factor receptor alpha and bcr-abl oncogene addiction in malignant hematologic cells. Wu Y, etal., Clin Cancer Res. 2012 Apr 1;18(7):1966-78. doi: 10.1158/1078-0432.CCR-11-1971. Epub 2012 Mar 23.
45. Activation of MAP kinases, Akt and PDGF receptors in injured peripheral nerves. Yamazaki T, etal., J Peripher Nerv Syst. 2009 Sep;14(3):165-76. doi: 10.1111/j.1529-8027.2009.00228.x.
46. Integrated Analysis of Multiple Microarray Studies to Identify Core Gene-Expression Signatures Involved in Tubulointerstitial Injury in Diabetic Nephropathy. Zhou H, etal., Biomed Res Int. 2022 May 10;2022:9554658. doi: 10.1155/2022/9554658. eCollection 2022.
Additional References at PubMed
PMID:1646396   PMID:1711435   PMID:1847074   PMID:2161888   PMID:2531695   PMID:2536956   PMID:2542288   PMID:2544881   PMID:2554309   PMID:7519254   PMID:7523122   PMID:7535778  
PMID:7679113   PMID:7682895   PMID:7896447   PMID:8188664   PMID:8261442   PMID:8486649   PMID:8586421   PMID:8617789   PMID:8643452   PMID:8647855   PMID:8647858   PMID:8702949  
PMID:8774134   PMID:8889548   PMID:8894141   PMID:8943348   PMID:8959326   PMID:9234717   PMID:9484840   PMID:9546424   PMID:9677323   PMID:9739761   PMID:9819414   PMID:10066366  
PMID:10508235   PMID:10733900   PMID:10734113   PMID:10806482   PMID:10837138   PMID:11046132   PMID:11095946   PMID:11175793   PMID:11279102   PMID:11297552   PMID:11331882   PMID:11342471  
PMID:11468294   PMID:11752456   PMID:11776032   PMID:11882663   PMID:11953315   PMID:12023424   PMID:12119411   PMID:12176024   PMID:12477932   PMID:12522257   PMID:12808148   PMID:12842979  
PMID:14741194   PMID:14745431   PMID:14766209   PMID:15154005   PMID:15326474   PMID:15380338   PMID:15489334   PMID:15492989   PMID:15635072   PMID:15674355   PMID:15685537   PMID:15717329  
PMID:15767546   PMID:15862965   PMID:15871904   PMID:15894928   PMID:15897742   PMID:15928335   PMID:16116920   PMID:16126374   PMID:16135486   PMID:16168125   PMID:16186508   PMID:16283668  
PMID:16305343   PMID:16331269   PMID:16344560   PMID:16357008   PMID:16373964   PMID:16498388   PMID:16502585   PMID:16675559   PMID:16685437   PMID:16690743   PMID:16697720   PMID:16730575  
PMID:16785193   PMID:16804324   PMID:16850112   PMID:16892550   PMID:17047316   PMID:17070723   PMID:17079230   PMID:17137731   PMID:17145809   PMID:17193822   PMID:17214097   PMID:17261495  
PMID:17298867   PMID:17299092   PMID:17344284   PMID:17363728   PMID:17377585   PMID:17438095   PMID:17448020   PMID:17452978   PMID:17470632   PMID:17532173   PMID:17566086   PMID:17568391  
PMID:17591942   PMID:17623951   PMID:17673922   PMID:17690840   PMID:17701174   PMID:17762857   PMID:17827398   PMID:17881156   PMID:18042065   PMID:18070887   PMID:18077793   PMID:18084259  
PMID:18157090   PMID:18187489   PMID:18190445   PMID:18193045   PMID:18197502   PMID:18265649   PMID:18284546   PMID:18288404   PMID:18312355   PMID:18314611   PMID:18326546   PMID:18331602  
PMID:18360281   PMID:18416137   PMID:18464291   PMID:18492696   PMID:18519768   PMID:18547963   PMID:18548106   PMID:18615679   PMID:18618605   PMID:18633616   PMID:18636362   PMID:18679424  
PMID:18686281   PMID:18701889   PMID:18706197   PMID:18758297   PMID:18950958   PMID:18955458   PMID:18978678   PMID:18987651   PMID:18992915   PMID:19035305   PMID:19047372   PMID:19074885  
PMID:19115205   PMID:19118897   PMID:19126548   PMID:19212337   PMID:19215021   PMID:19248967   PMID:19291337   PMID:19302534   PMID:19307738   PMID:19326424   PMID:19333543   PMID:19333919  
PMID:19333949   PMID:19335066   PMID:19351817   PMID:19379481   PMID:19393245   PMID:19411681   PMID:19448595   PMID:19496203   PMID:19563658   PMID:19614767   PMID:19644140   PMID:19648886  
PMID:19649203   PMID:19675092   PMID:19694830   PMID:19696981   PMID:19707201   PMID:19717644   PMID:19755855   PMID:19756614   PMID:19779861   PMID:19787330   PMID:19839721   PMID:19843560  
PMID:19846951   PMID:19861461   PMID:19862822   PMID:19900103   PMID:19913121   PMID:19936766   PMID:19943934   PMID:19946888   PMID:19953087   PMID:19956635   PMID:20001342   PMID:20023271  
PMID:20036812   PMID:20071345   PMID:20107158   PMID:20129251   PMID:20133985   PMID:20139978   PMID:20169295   PMID:20379614   PMID:20393746   PMID:20424473   PMID:20425130   PMID:20442296  
PMID:20453000   PMID:20470368   PMID:20473908   PMID:20479398   PMID:20485444   PMID:20589679   PMID:20598160   PMID:20615084   PMID:20628086   PMID:20634891   PMID:20651400   PMID:20686603  
PMID:20718716   PMID:20800603   PMID:20804422   PMID:20823768   PMID:20861712   PMID:20889717   PMID:21080877   PMID:21092857   PMID:21131919   PMID:21157293   PMID:21210262   PMID:21274753  
PMID:21281241   PMID:21310211   PMID:21357737   PMID:21382095   PMID:21387320   PMID:21393858   PMID:21396851   PMID:21397860   PMID:21399396   PMID:21403518   PMID:21434524   PMID:21461555  
PMID:21478825   PMID:21496277   PMID:21527588   PMID:21574155   PMID:21590454   PMID:21596750   PMID:21605429   PMID:21642621   PMID:21645144   PMID:21665993   PMID:21725412   PMID:21769672  
PMID:21818111   PMID:21819482   PMID:21873635   PMID:21947029   PMID:21953054   PMID:21988832   PMID:21993628   PMID:21996738   PMID:22076173   PMID:22080864   PMID:22137795   PMID:22144915  
PMID:22160160   PMID:22237707   PMID:22293178   PMID:22311673   PMID:22323597   PMID:22327316   PMID:22389665   PMID:22394371   PMID:22399613   PMID:22411791   PMID:22449154   PMID:22473090  
PMID:22520943   PMID:22523564   PMID:22543129   PMID:22558483   PMID:22593460   PMID:22650155   PMID:22661233   PMID:22670177   PMID:22697462   PMID:22718859   PMID:22744707   PMID:22933705  
PMID:22944561   PMID:22969067   PMID:22986233   PMID:23064464   PMID:23074200   PMID:23106360   PMID:23146028   PMID:23171083   PMID:23242283   PMID:23243022   PMID:23291969   PMID:23292839  
PMID:23391309   PMID:23401653   PMID:23411580   PMID:23438035   PMID:23567961   PMID:23577108   PMID:23602568   PMID:23612575   PMID:23618877   PMID:23620752   PMID:23621172   PMID:23621836  
PMID:23630597   PMID:23671131   PMID:23696920   PMID:23696935   PMID:23752188   PMID:23755839   PMID:23761726   PMID:23776077   PMID:23833305   PMID:23914042   PMID:23928059   PMID:23940030  
PMID:23970477   PMID:23990986   PMID:24022915   PMID:24040448   PMID:24132921   PMID:24151977   PMID:24157063   PMID:24190966   PMID:24266839   PMID:24369323   PMID:24458279   PMID:24485751  
PMID:24489888   PMID:24550449   PMID:24634380   PMID:24658140   PMID:24667490   PMID:24674052   PMID:24674454   PMID:24703957   PMID:24925725   PMID:24934485   PMID:24945657   PMID:24963161  
PMID:24982425   PMID:25024074   PMID:25025175   PMID:25033601   PMID:25120810   PMID:25145436   PMID:25169976   PMID:25202099   PMID:25241761   PMID:25323095   PMID:25333264   PMID:25380967  
PMID:25402006   PMID:25411163   PMID:25416956   PMID:25425645   PMID:25481675   PMID:25502837   PMID:25605837   PMID:25621775   PMID:25659388   PMID:25674291   PMID:25700367   PMID:25744030  
PMID:25748235   PMID:25798074   PMID:25880691   PMID:25921289   PMID:25936870   PMID:25970686   PMID:26189259   PMID:26191287   PMID:26191303   PMID:26191304   PMID:26284551   PMID:26297547  
PMID:26496610   PMID:26544626   PMID:26549034   PMID:26715280   PMID:26772734   PMID:26778387   PMID:26839216   PMID:26848617   PMID:26867653   PMID:26990750   PMID:27022215   PMID:27120808  
PMID:27148859   PMID:27248825   PMID:27302634   PMID:27344175   PMID:27349873   PMID:27477693   PMID:27569236   PMID:27573107   PMID:27582545   PMID:27638178   PMID:27682510   PMID:27764787  
PMID:27783942   PMID:27845909   PMID:27864688   PMID:27881889   PMID:28013529   PMID:28087642   PMID:28098915   PMID:28105789   PMID:28159677   PMID:28205554   PMID:28215843   PMID:28267575  
PMID:28319113   PMID:28374041   PMID:28426120   PMID:28465473   PMID:28514442   PMID:28628118   PMID:28734947   PMID:28768491   PMID:28783171   PMID:28902181   PMID:28940884   PMID:29019285  
PMID:29158445   PMID:29170250   PMID:29360139   PMID:29380207   PMID:29413424   PMID:29422769   PMID:29486293   PMID:29510530   PMID:29520106   PMID:29567772   PMID:29885053   PMID:30038270  
PMID:30057274   PMID:30060824   PMID:30117724   PMID:30121753   PMID:30126369   PMID:30201265   PMID:30221743   PMID:30253204   PMID:30346879   PMID:30389923   PMID:30471916   PMID:30506540  
PMID:30598078   PMID:30654933   PMID:30762585   PMID:30779868   PMID:30876808   PMID:30877378   PMID:30882891   PMID:30898150   PMID:30958604   PMID:31125253   PMID:31257526   PMID:31538651  
PMID:31609499   PMID:31708372   PMID:31879991   PMID:31974453   PMID:31980649   PMID:32020209   PMID:32049626   PMID:32091431   PMID:32125294   PMID:32221502   PMID:32236636   PMID:32296183  
PMID:32670260   PMID:32694731   PMID:32748499   PMID:33213472   PMID:33226850   PMID:33596914   PMID:33603171   PMID:33707748   PMID:33805311   PMID:33859072   PMID:33867829   PMID:33961781  
PMID:34121727   PMID:34155091   PMID:34174973   PMID:34304603   PMID:34545083   PMID:34575976   PMID:34666996   PMID:34865611   PMID:35075231   PMID:35090889   PMID:35105853   PMID:35256949  
PMID:35348002   PMID:35384245   PMID:35409263   PMID:36183438   PMID:36215168   PMID:36411356   PMID:36424410   PMID:36723852   PMID:36931259   PMID:37610648   PMID:37752244   PMID:37802365  
PMID:38178783  


Genomics

Comparative Map Data
PDGFRA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38454,229,293 - 54,298,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl454,229,280 - 54,298,245 (+)EnsemblGRCh38hg38GRCh38
GRCh37455,095,460 - 55,164,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36454,790,204 - 54,859,169 (+)NCBINCBI36Build 36hg18NCBI36
Build 34454,936,129 - 55,005,339NCBI
Celera452,596,023 - 52,665,170 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef451,043,324 - 51,112,555 (+)NCBIHuRef
CHM1_1455,130,846 - 55,199,987 (+)NCBICHM1_1
T2T-CHM13v2.0457,718,046 - 57,786,996 (+)NCBIT2T-CHM13v2.0
Pdgfra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39575,311,988 - 75,358,867 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl575,312,953 - 75,358,876 (+)EnsemblGRCm39 Ensembl
GRCm38575,151,322 - 75,198,206 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl575,152,292 - 75,198,215 (+)EnsemblGRCm38mm10GRCm38
MGSCv37575,548,316 - 75,594,229 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36575,434,045 - 75,479,893 (+)NCBIMGSCv36mm8
Celera572,441,591 - 72,487,596 (+)NCBICelera
Cytogenetic Map5C3.3NCBI
cM Map539.55NCBI
Pdgfra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81433,360,027 - 33,408,604 (-)NCBIGRCr8
mRatBN7.21433,005,838 - 33,054,347 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1433,005,839 - 33,054,335 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1433,356,581 - 33,405,000 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01434,664,393 - 34,712,811 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01433,149,650 - 33,198,062 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01435,527,926 - 35,581,130 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1435,527,927 - 35,581,031 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01435,356,434 - 35,409,311 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41435,369,422 - 35,418,126 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11435,369,672 - 35,418,126 (-)NCBI
Celera1432,273,077 - 32,324,887 (-)NCBICelera
RH 3.4 Map14432.47RGD
Cytogenetic Map14p11NCBI
Pdgfra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544716,569,909 - 16,612,373 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544716,570,652 - 16,613,410 (-)NCBIChiLan1.0ChiLan1.0
PDGFRA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2375,493,805 - 75,564,589 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1475,697,777 - 75,768,556 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0469,639,081 - 69,709,870 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1476,200,871 - 76,271,105 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl476,199,382 - 76,271,097 (-)Ensemblpanpan1.1panPan2
PDGFRA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11346,729,722 - 46,775,828 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1346,730,703 - 46,773,278 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1346,687,151 - 46,733,378 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01347,339,954 - 47,386,179 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1347,340,084 - 47,386,176 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11347,012,519 - 47,058,684 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01346,544,815 - 46,590,877 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01347,418,193 - 47,464,247 (+)NCBIUU_Cfam_GSD_1.0
Pdgfra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528529,444,794 - 29,494,171 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648216,807,569 - 16,853,587 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648216,804,129 - 16,853,539 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDGFRA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl840,967,493 - 41,021,441 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1840,966,568 - 41,021,440 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2843,067,784 - 43,081,654 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDGFRA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1714,243,291 - 14,307,373 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl714,241,070 - 14,307,422 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606615,086,695 - 15,149,115 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdgfra
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476115,225,356 - 15,269,810 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476115,223,789 - 15,269,685 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDGFRA
2981 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006206.6(PDGFRA):c.1415T>G (p.Ile472Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000548403]|Hereditary cancer-predisposing syndrome [RCV002395323] Chr4:54273587 [GRCh38]
Chr4:55139754 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.2926G>A (p.Ala976Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000550847]|Hereditary cancer-predisposing syndrome [RCV002438325] Chr4:54290358 [GRCh38]
Chr4:55156525 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2132A>G (p.Asn711Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000526062]|Hereditary cancer-predisposing syndrome [RCV002420386] Chr4:54278491 [GRCh38]
Chr4:55144658 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2899C>T (p.Leu967=) single nucleotide variant Gastrointestinal stromal tumor [RCV000545970] Chr4:54290331 [GRCh38]
Chr4:55156498 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2350G>T (p.Asp784Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000546903]|Hereditary cancer-predisposing syndrome [RCV002448647] Chr4:54285397 [GRCh38]
Chr4:55151564 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1092C>G (p.Thr364=) single nucleotide variant Gastrointestinal stromal tumor [RCV000526772]|Hereditary cancer-predisposing syndrome [RCV002448644] Chr4:54267712 [GRCh38]
Chr4:55133879 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.718A>C (p.Asn240His) single nucleotide variant Gastrointestinal stromal tumor [RCV000549404] Chr4:54265008 [GRCh38]
Chr4:55131175 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1263C>T (p.Val421=) single nucleotide variant Gastrointestinal stromal tumor [RCV000529402]|Hereditary cancer-predisposing syndrome [RCV002448645] Chr4:54272419 [GRCh38]
Chr4:55138586 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.624A>G (p.Leu208=) single nucleotide variant Gastrointestinal stromal tumor [RCV000530533]|Hereditary cancer-predisposing syndrome [RCV003302795] Chr4:54263923 [GRCh38]
Chr4:55130090 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2988_2990del (p.Glu997del) deletion Gastrointestinal stromal tumor [RCV000547513]|PDGFRA-related condition [RCV003409777] Chr4:54290418..54290420 [GRCh38]
Chr4:55156585..55156587 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000525805]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476234]|not provided [RCV003329294] Chr4:54267328 [GRCh38]
Chr4:55133495 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1264G>A (p.Asp422Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000546581]|Hereditary cancer-predisposing syndrome [RCV002448646] Chr4:54272420 [GRCh38]
Chr4:55138587 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1517T>G (p.Leu506Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000530691] Chr4:54273689 [GRCh38]
Chr4:55139856 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-5A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000547294]|Hereditary cancer-predisposing syndrome [RCV001013590] Chr4:54277891 [GRCh38]
Chr4:55144058 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2152C>T (p.Arg718Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV000550425]|Hereditary cancer-predisposing syndrome [RCV002431557] Chr4:54278511 [GRCh38]
Chr4:55144678 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3032G>A (p.Arg1011Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000528364]|Hereditary cancer-predisposing syndrome [RCV002438327] Chr4:54290464 [GRCh38]
Chr4:55156631 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.18G>A (p.Pro6=) single nucleotide variant Gastrointestinal stromal tumor [RCV000542970]|Hereditary cancer-predisposing syndrome [RCV002413474] Chr4:54258786 [GRCh38]
Chr4:55124953 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1431C>T (p.His477=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419773]|Hereditary cancer-predisposing syndrome [RCV003302791] Chr4:54273603 [GRCh38]
Chr4:55139770 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1616T>C (p.Ile539Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000531966]|Hereditary cancer-predisposing syndrome [RCV003302792] Chr4:54274588 [GRCh38]
Chr4:55140755 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.470C>T (p.Thr157Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000551511] Chr4:54263769 [GRCh38]
Chr4:55129936 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.223G>C (p.Glu75Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000552021]|Hereditary cancer-predisposing syndrome [RCV002431560] Chr4:54261268 [GRCh38]
Chr4:55127435 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.348C>T (p.His116=) single nucleotide variant Gastrointestinal stromal tumor [RCV000545397]|Hereditary cancer-predisposing syndrome [RCV002456078] Chr4:54261393 [GRCh38]
Chr4:55127560 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000552551] Chr4:54267470 [GRCh38]
Chr4:55133637 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1176T>C (p.Tyr392=) single nucleotide variant Gastrointestinal stromal tumor [RCV000532639]|Hereditary cancer-predisposing syndrome [RCV002330843] Chr4:54270687 [GRCh38]
Chr4:55136854 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000545874] Chr4:54267542 [GRCh38]
Chr4:55133709 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1065T>C (p.Thr355=) single nucleotide variant Gastrointestinal stromal tumor [RCV001394476]|Hereditary cancer-predisposing syndrome [RCV003375279] Chr4:54267685 [GRCh38]
Chr4:55133852 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000466976]|Hereditary cancer-predisposing syndrome [RCV001010200]|Isolated cleft palate [RCV000032817]|Ovarian cancer [RCV003153315] Chr4:54270713 [GRCh38]
Chr4:55136880 [GRCh37]
Chr4:4q12		 benign|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000232812]|Hereditary cancer-predisposing syndrome [RCV001012503]|Idiopathic hypereosinophilic syndrome [RCV003485526]|Isolated cleft palate [RCV000032818]|Ovarian cancer [RCV003153316]|PDGFRA-related condition [RCV003944861]|not specified [RCV000121781] Chr4:54274603 [GRCh38]
Chr4:55140770 [GRCh37]
Chr4:4q12		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000232988]|Hereditary cancer-predisposing syndrome [RCV002321497]|Isolated cleft palate [RCV000032819]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV002291549]|not provided [RCV001753439] Chr4:54295157 [GRCh38]
Chr4:55161324 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.5(PDGFRA):c.1700_1701delCAinsTG (p.Pro567Leu) indel AllHighlyPenetrant [RCV000121782]|not specified [RCV000121782] Chr4:54274887..54274888 [GRCh38]
Chr4:55141054..55141055 [GRCh37]
Chr4:4q12		 not provided
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000014501]|not provided [RCV001355194] Chr4:54285926 [GRCh38]
Chr4:55152093 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance|other
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) deletion Gastrointestinal stromal tumor [RCV000014502]|not provided [RCV001357347] Chr4:54285925..54285936 [GRCh38]
Chr4:55152092..55152103 [GRCh37]
Chr4:4q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) deletion Gastrointestinal stromal tumor [RCV000014503] Chr4:54285934..54285945 [GRCh38]
Chr4:55152101..55152112 [GRCh37]
Chr4:4q12		 pathogenic|other
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000014504]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV000787298]|not provided [RCV001357690] Chr4:54274869 [GRCh38]
Chr4:55141036 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance|other
NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) insertion Gastrointestinal stromal tumor [RCV000014506] Chr4:54274863..54274864 [GRCh38]
Chr4:55141030..55141031 [GRCh37]
Chr4:4q12		 pathogenic|other
NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) deletion Gastrointestinal stromal tumor [RCV000014507] Chr4:54274865..54274879 [GRCh38]
Chr4:55141032..55141046 [GRCh37]
Chr4:4q12		 pathogenic|other
NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del) deletion Gastrointestinal stromal tumor [RCV000014508] Chr4:54274883..54274900 [GRCh38]
Chr4:55141050..55141067 [GRCh37]
Chr4:4q12		 pathogenic|other
NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003525857]|Hypereosinophilic syndrome, idiopathic, resistant to imatinib [RCV000014509] Chr4:54278380 [GRCh38]
Chr4:55144547 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000442350]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV000014510] Chr4:54285937 [GRCh38]
Chr4:55152104 [GRCh37]
Chr4:4q12		 pathogenic|likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001379751]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV000014511] Chr4:54274851 [GRCh38]
Chr4:55141018 [GRCh37]
Chr4:4q12		 pathogenic|likely pathogenic
NM_006206.6(PDGFRA):c.3077A>G (p.Asp1026Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000542345]|Hereditary cancer-predisposing syndrome [RCV002319528]|not provided [RCV003225081] Chr4:54290509 [GRCh38]
Chr4:55156676 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1567T>A (p.Ser523Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000543488]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476229] Chr4:54274539 [GRCh38]
Chr4:55140706 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1070T>C (p.Ile357Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000542165] Chr4:54267690 [GRCh38]
Chr4:55133857 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-3T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000544047] Chr4:54278359 [GRCh38]
Chr4:55144526 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1907G>A (p.Ser636Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001997303]|Hereditary cancer-predisposing syndrome [RCV002407164] Chr4:54277911 [GRCh38]
Chr4:55144078 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.590A>C (p.Lys197Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000546356]|Hereditary cancer-predisposing syndrome [RCV001024671] Chr4:54263889 [GRCh38]
Chr4:55130056 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3063T>A (p.Pro1021=) single nucleotide variant Gastrointestinal stromal tumor [RCV000524995] Chr4:54290495 [GRCh38]
Chr4:55156662 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000547856] Chr4:54277384 [GRCh38]
Chr4:55143551 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000547980] Chr4:54285837 [GRCh38]
Chr4:55152004 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+3A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000543289] Chr4:54263930 [GRCh38]
Chr4:55130097 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157C>T (p.Ser719=) single nucleotide variant Gastrointestinal stromal tumor [RCV000526277]|Hereditary cancer-predisposing syndrome [RCV002420387] Chr4:54280316 [GRCh38]
Chr4:55146483 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.429T>G (p.Asp143Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000526325] Chr4:54263728 [GRCh38]
Chr4:55129895 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.405T>C (p.Asp135=) single nucleotide variant Gastrointestinal stromal tumor [RCV000551174]|Hereditary cancer-predisposing syndrome [RCV003278885]|PDGFRA-related condition [RCV003960271] Chr4:54263704 [GRCh38]
Chr4:55129871 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1173T>G (p.His391Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000551922] Chr4:54270684 [GRCh38]
Chr4:55136851 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2194A>G (p.Met732Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000527659]|Hereditary cancer-predisposing syndrome [RCV002431558] Chr4:54280353 [GRCh38]
Chr4:55146520 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.988C>T (p.His330Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000530074]|Hereditary cancer-predisposing syndrome [RCV002384074]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476235] Chr4:54267608 [GRCh38]
Chr4:55133775 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1700_1701inv (p.Pro567Leu) inversion Gastrointestinal stromal tumor [RCV000550761]|Hereditary cancer-predisposing syndrome [RCV002413470]|not specified [RCV000121782] Chr4:54274887..54274888 [GRCh38]
Chr4:55141054..55141055 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.49+8G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000552760] Chr4:54258825 [GRCh38]
Chr4:55124992 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2643T>C (p.Tyr881=) single nucleotide variant Gastrointestinal stromal tumor [RCV000549851]|Hereditary cancer-predisposing syndrome [RCV002431561] Chr4:54287510 [GRCh38]
Chr4:55153677 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3218del (p.Met1073fs) deletion Gastrointestinal stromal tumor [RCV000543893]|Hereditary cancer-predisposing syndrome [RCV001019296] Chr4:54295220 [GRCh38]
Chr4:55161387 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.489C>G (p.Asn163Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000527534] Chr4:54263788 [GRCh38]
Chr4:55129955 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.521G>A (p.Ser174Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000553051]|Hereditary cancer-predisposing syndrome [RCV003159767] Chr4:54263820 [GRCh38]
Chr4:55129987 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2805T>G (p.Ser935Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000544490]|Hereditary cancer-predisposing syndrome [RCV002438324] Chr4:54289039 [GRCh38]
Chr4:55155206 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1628T>C (p.Ile543Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000544589]|Hereditary cancer-predisposing syndrome [RCV002404395] Chr4:54274600 [GRCh38]
Chr4:55140767 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1488C>G (p.Thr496=) single nucleotide variant Gastrointestinal stromal tumor [RCV000524762] Chr4:54273660 [GRCh38]
Chr4:55139827 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1134A>G (p.Lys378=) single nucleotide variant Gastrointestinal stromal tumor [RCV001454630] Chr4:54270645 [GRCh38]
Chr4:55136812 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1789C>T (p.Arg597Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV000528246]|Hereditary cancer-predisposing syndrome [RCV002404396]|not provided [RCV002279339] Chr4:54277390 [GRCh38]
Chr4:55143557 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1832C>G (p.Thr611Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000528725]|Hereditary cancer-predisposing syndrome [RCV001013322] Chr4:54277433 [GRCh38]
Chr4:55143600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2760C>T (p.His920=) single nucleotide variant Gastrointestinal stromal tumor [RCV000552309]|Hereditary cancer-predisposing syndrome [RCV001016524]|PDGFRA-related condition [RCV003925606] Chr4:54288884 [GRCh38]
Chr4:55155051 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1713A>G (p.Glu571=) single nucleotide variant Gastrointestinal stromal tumor [RCV000526901] Chr4:54274900 [GRCh38]
Chr4:55141067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2553G>A (p.Ser851=) single nucleotide variant Gastrointestinal stromal tumor [RCV000549365]|Hereditary cancer-predisposing syndrome [RCV002438322]|PDGFRA-related condition [RCV003905346] Chr4:54285954 [GRCh38]
Chr4:55152121 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.726G>A (p.Val242=) single nucleotide variant Gastrointestinal stromal tumor [RCV000525391] Chr4:54265016 [GRCh38]
Chr4:55131183 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000294449]|Hereditary cancer-predisposing syndrome [RCV001009696]|Idiopathic hypereosinophilic syndrome [RCV000349322]|not provided [RCV000034712]|not specified [RCV000121800] Chr4:54267639 [GRCh38]
Chr4:55133806 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000229189]|Hereditary cancer-predisposing syndrome [RCV001017288]|PDGFRA-related condition [RCV003964836]|not provided [RCV000034713] Chr4:54267719 [GRCh38]
Chr4:55133886 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000204962]|Hereditary cancer-predisposing syndrome [RCV001010760]|Idiopathic hypereosinophilic syndrome [RCV000360480]|not provided [RCV000034714] Chr4:54272441 [GRCh38]
Chr4:55138608 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000764538]|Gastrointestinal stromal tumor [RCV001082697]|Hereditary cancer-predisposing syndrome [RCV001011041]|Idiopathic hypereosinophilic syndrome [RCV003485527]|PDGFRA-related condition [RCV003398593]|not provided [RCV000034715] Chr4:54272481 [GRCh38]
Chr4:55138648 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000326887]|Hereditary cancer-predisposing syndrome [RCV001011554]|Idiopathic hypereosinophilic syndrome [RCV000381487]|Myeloproliferative neoplasm, unclassifiable [RCV002284181]|not provided [RCV000034716]|not specified [RCV000121780] Chr4:54273604 [GRCh38]
Chr4:55139771 [GRCh37]
Chr4:4q12		 likely pathogenic|benign|no classifications from unflagged records|not provided
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399366]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473259]|not provided [RCV000034717] Chr4:54274887 [GRCh38]
Chr4:55141054 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) single nucleotide variant Gastrointestinal stromal tumor [RCV001087403]|Hereditary cancer-predisposing syndrome [RCV001015093]|PDGFRA-related condition [RCV003944884]|not provided [RCV000034718] Chr4:54280450 [GRCh38]
Chr4:55146617 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000204869]|Hereditary cancer-predisposing syndrome [RCV000210787]|Idiopathic hypereosinophilic syndrome [RCV000262832]|not provided [RCV000034719]|not specified [RCV000121794] Chr4:54261281 [GRCh38]
Chr4:55127448 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000230418]|Hereditary cancer-predisposing syndrome [RCV001016840]|Idiopathic hypereosinophilic syndrome [RCV001146168]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473260]|not provided [RCV000034720] Chr4:54290329 [GRCh38]
Chr4:55156496 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.3004G>T (p.Asp1002Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000696315]|not provided [RCV000034721] Chr4:54290436 [GRCh38]
Chr4:55156603 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000228399]|Hereditary cancer-predisposing syndrome [RCV001024770]|Idiopathic hypereosinophilic syndrome [RCV000284407]|PDGFRA-related condition [RCV003914911]|not provided [RCV000034722]|not specified [RCV000121795] Chr4:54263898 [GRCh38]
Chr4:55130065 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000204480]|Hereditary cancer-predisposing syndrome [RCV001025460]|Idiopathic hypereosinophilic syndrome [RCV000290148]|Myeloproliferative neoplasm, unclassifiable [RCV002284182]|not provided [RCV000034723]|not specified [RCV000121797] Chr4:54264951 [GRCh38]
Chr4:55131118 [GRCh37]
Chr4:4q12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001079833]|Hereditary cancer-predisposing syndrome [RCV001018574]|Idiopathic hypereosinophilic syndrome [RCV001144051]|PDGFRA-related condition [RCV003944885]|not provided [RCV000034724] Chr4:54267425 [GRCh38]
Chr4:55133592 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
GRCh38/hg38 4q12(chr4:51870025-55102392)x1 copy number loss See cases [RCV000050988] Chr4:51870025..55102392 [GRCh38]
Chr4:52736191..55968559 [GRCh37]
Chr4:52430948..55663316 [NCBI36]
Chr4:4q12		 pathogenic
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1		 pathogenic
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 copy number gain See cases [RCV000051771] Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
Chr4:4q12-13.2		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 copy number gain See cases [RCV000051773] Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
Chr4:4q12-13.1		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 copy number loss See cases [RCV000053265] Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
Chr4:4q12-13.1		 pathogenic
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 copy number loss See cases [RCV000053266] Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
Chr4:4q12-13.1		 pathogenic
NM_006206.6(PDGFRA):c.570G>A (p.Glu190=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639622] Chr4:54263869 [GRCh38]
Chr4:55130036 [GRCh37]
Chr4:54824793 [NCBI36]
Chr4:4q12		 likely benign|not provided
NM_006206.6(PDGFRA):c.571G>A (p.Ala191Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003525633] Chr4:54263870 [GRCh38]
Chr4:55130037 [GRCh37]
Chr4:54824794 [NCBI36]
Chr4:4q12		 uncertain significance|not provided
NM_006206.4(PDGFRA):c.1375G>A (p.Glu459Lys) single nucleotide variant Malignant melanoma [RCV000066455] Chr4:54273547 [GRCh38]
Chr4:55139714 [GRCh37]
Chr4:54834471 [NCBI36]
Chr4:4q12		 not provided
NM_006206.6(PDGFRA):c.2779G>A (p.Glu927Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001057649]|Hereditary cancer-predisposing syndrome [RCV002433570]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003474654] Chr4:54289013 [GRCh38]
Chr4:55155180 [GRCh37]
Chr4:54849937 [NCBI36]
Chr4:4q12		 uncertain significance|not provided
NM_006206.4(PDGFRA):c.2810C>T (p.Pro937Leu) single nucleotide variant Malignant melanoma [RCV000066457] Chr4:54289044 [GRCh38]
Chr4:55155211 [GRCh37]
Chr4:54849968 [NCBI36]
Chr4:4q12		 not provided
NM_006206.4(PDGFRA):c.2907C>T (p.Phe969=) single nucleotide variant Malignant melanoma [RCV000066458] Chr4:54290339 [GRCh38]
Chr4:55156506 [GRCh37]
Chr4:54851263 [NCBI36]
Chr4:4q12		 not provided
NM_006206.4(PDGFRA):c.1617C>T (p.Ile539=) single nucleotide variant Malignant melanoma [RCV000061011] Chr4:54274589 [GRCh38]
Chr4:55140756 [GRCh37]
Chr4:54835513 [NCBI36]
Chr4:4q12		 not provided
NM_006206.6(PDGFRA):c.1417A>G (p.Ile473Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000705571]|Hereditary cancer-predisposing syndrome [RCV002390273]|not specified [RCV000121779] Chr4:54273589 [GRCh38]
Chr4:55139756 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000467651]|Hereditary cancer-predisposing syndrome [RCV001015024]|PDGFRA-related condition [RCV003422002]|not provided [RCV003736579]|not specified [RCV000121783] Chr4:54280465 [GRCh38]
Chr4:55146632 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance|not provided
NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000229967]|Hereditary cancer-predisposing syndrome [RCV001014828]|not specified [RCV000121784] Chr4:54280389 [GRCh38]
Chr4:55146556 [GRCh37]
Chr4:4q12		 benign|likely benign|not provided
NM_006206.6(PDGFRA):c.2282T>G (p.Leu761Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000226101]|Hereditary cancer-predisposing syndrome [RCV001015056]|not provided [RCV001358266]|not specified [RCV000121785] Chr4:54280441 [GRCh38]
Chr4:55146608 [GRCh37]
Chr4:4q12		 benign|likely benign|not provided
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000461163]|Hereditary cancer-predisposing syndrome [RCV001022920]|not provided [RCV003128582]|not specified [RCV000121786] Chr4:54258814 [GRCh38]
Chr4:55124981 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006206.6(PDGFRA):c.2899C>G (p.Leu967Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000234402]|Hereditary cancer-predisposing syndrome [RCV001016845]|PDGFRA-related condition [RCV003945099]|not specified [RCV000121787] Chr4:54290331 [GRCh38]
Chr4:55156498 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006206.6(PDGFRA):c.2935C>T (p.Arg979Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000228242]|Hereditary cancer-predisposing syndrome [RCV002433614]|not specified [RCV000121788] Chr4:54290367 [GRCh38]
Chr4:55156534 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.2936G>A (p.Arg979His) single nucleotide variant Gastrointestinal stromal tumor [RCV000462430]|Hereditary cancer-predisposing syndrome [RCV001017570]|PDGFRA-related condition [RCV003415921]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003474729]|not specified [RCV000121789] Chr4:54290368 [GRCh38]
Chr4:55156535 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance|not provided
NM_006206.6(PDGFRA):c.2966T>C (p.Ile989Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000473628]|not specified [RCV000121790] Chr4:54290398 [GRCh38]
Chr4:55156565 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000458123]|Hereditary cancer-predisposing syndrome [RCV001019766]|not provided [RCV003236779]|not specified [RCV000121791] Chr4:54261142 [GRCh38]
Chr4:55127309 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.86C>T (p.Ser29Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001854668]|Hereditary cancer-predisposing syndrome [RCV002371956]|not specified [RCV000121792] Chr4:54261131 [GRCh38]
Chr4:55127298 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000533882]|Myeloproliferative neoplasm, unclassifiable [RCV002284190]|not specified [RCV000121793] Chr4:54261212 [GRCh38]
Chr4:55127379 [GRCh37]
Chr4:4q12		 likely pathogenic|likely benign|not provided
NM_006206.6(PDGFRA):c.499G>A (p.Val167Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000227178]|Hereditary cancer-predisposing syndrome [RCV002336266]|not specified [RCV000121796] Chr4:54263798 [GRCh38]
Chr4:55129965 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000261218]|Idiopathic hypereosinophilic syndrome [RCV000316410]|not specified [RCV000121798] Chr4:54267382 [GRCh38]
Chr4:55133549 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance|not provided
NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His) single nucleotide variant Gastrointestinal stromal tumor [RCV000694495]|Hereditary cancer-predisposing syndrome [RCV002399488]|PDGFRA-related condition [RCV003407521]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003444204]|not provided [RCV003236780]|not specified [RCV000121799] Chr4:54267677 [GRCh38]
Chr4:55133844 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000230967]|Hereditary cancer-predisposing syndrome [RCV001009892]|Idiopathic hypereosinophilic syndrome [RCV000336391]|PDGFRA-related condition [RCV003965025]|not specified [RCV000121801] Chr4:54270633 [GRCh38]
Chr4:55136800 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_006206.6(PDGFRA):c.1357A>T (p.Ile453Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001854669]|not specified [RCV000121802] Chr4:54272513 [GRCh38]
Chr4:55138680 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.1307C>T (p.Thr436Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000234610]|not specified [RCV000121803] Chr4:54272463 [GRCh38]
Chr4:55138630 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.2323+1120C>T single nucleotide variant Hereditary cancer [RCV003492515]|Myeloproliferative neoplasm, unclassifiable [RCV002284188]|PDGFRA-related condition [RCV003975066]|not specified [RCV000119875] Chr4:54281602 [GRCh38]
Chr4:55147769 [GRCh37]
Chr4:4q12		 likely pathogenic|benign|likely benign|uncertain significance|not provided
NM_006206.6(PDGFRA):c.1412A>G (p.Asn471Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001348838] Chr4:54273584 [GRCh38]
Chr4:55139751 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2605G>A (p.Asp869Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001997789] Chr4:54287472 [GRCh38]
Chr4:55153639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.766A>G (p.Lys256Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001996948]|Hereditary cancer-predisposing syndrome [RCV002388919] Chr4:54267295 [GRCh38]
Chr4:55133462 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1949_1955del (p.His650fs) deletion Gastrointestinal stromal tumor [RCV001303007] Chr4:54277953..54277959 [GRCh38]
Chr4:55144120..55144126 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000206551]|Gastrointestinal stromal tumor [RCV000515443]|Hereditary cancer-predisposing syndrome [RCV001009978]|Idiopathic hypereosinophilic syndrome [RCV001150298]|PDGFRA-related condition [RCV003967544]|not provided [RCV002466466]|not specified [RCV000203175] Chr4:54270646 [GRCh38]
Chr4:55136813 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*39C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000261487]|Idiopathic hypereosinophilic syndrome [RCV000353784]|PDGFRA-related condition [RCV003912477] Chr4:54295311 [GRCh38]
Chr4:55161478 [GRCh37]
Chr4:4q12		 benign|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*2387T>G single nucleotide variant Gastrointestinal stromal tumor [RCV000357641]|Idiopathic hypereosinophilic syndrome [RCV000265237]|not provided [RCV001643054] Chr4:54297659 [GRCh38]
Chr4:55163826 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*793C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000357997]|Idiopathic hypereosinophilic syndrome [RCV000265620] Chr4:54296065 [GRCh38]
Chr4:55162232 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*2111G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000355461]|Idiopathic hypereosinophilic syndrome [RCV000262998] Chr4:54297383 [GRCh38]
Chr4:55163550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) single nucleotide variant Gastrointestinal stromal tumor [RCV000204690]|Hereditary cancer-predisposing syndrome [RCV001016561]|Idiopathic hypereosinophilic syndrome [RCV000323475]|not provided [RCV001557447]|not specified [RCV001579684] Chr4:54289012 [GRCh38]
Chr4:55155179 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) single nucleotide variant Gastrointestinal stromal tumor [RCV000205240]|Hereditary cancer-predisposing syndrome [RCV001019948]|Idiopathic hypereosinophilic syndrome [RCV000352800]|not provided [RCV001564460] Chr4:54267616 [GRCh38]
Chr4:55133783 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.2323+9G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001443882] Chr4:54280491 [GRCh38]
Chr4:55146658 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1133A>T (p.Lys378Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000206492]|Hereditary cancer-predisposing syndrome [RCV001009956]|PDGFRA-related condition [RCV003417749] Chr4:54270644 [GRCh38]
Chr4:55136811 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2483A>G (p.Gln828Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000206751]|Hereditary cancer-predisposing syndrome [RCV002426972] Chr4:54285884 [GRCh38]
Chr4:55152051 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1654-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000546002] Chr4:54274837 [GRCh38]
Chr4:55141004 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3265C>T (p.Leu1089=) single nucleotide variant Gastrointestinal stromal tumor [RCV000543921] Chr4:54295267 [GRCh38]
Chr4:55161434 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000546682] Chr4:54285361 [GRCh38]
Chr4:55151528 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.864C>T (p.Tyr288=) single nucleotide variant Gastrointestinal stromal tumor [RCV000526972]|Hereditary cancer-predisposing syndrome [RCV002377031] Chr4:54267393 [GRCh38]
Chr4:55133560 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.64C>T (p.Leu22Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000543350] Chr4:54261109 [GRCh38]
Chr4:55127276 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.872C>G (p.Ala291Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000229404] Chr4:54267401 [GRCh38]
Chr4:55133568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.380C>G (p.Ala127Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000227624]|Hereditary cancer-predisposing syndrome [RCV002354661] Chr4:54263679 [GRCh38]
Chr4:55129846 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.855T>C (p.Ser285=) single nucleotide variant Gastrointestinal stromal tumor [RCV001480384]|Hereditary cancer-predisposing syndrome [RCV002444905] Chr4:54267384 [GRCh38]
Chr4:55133551 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000227685] Chr4:54270753 [GRCh38]
Chr4:55136920 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) single nucleotide variant Gastrointestinal stromal tumor [RCV000227877]|Hereditary cancer-predisposing syndrome [RCV001012892]|Idiopathic hypereosinophilic syndrome [RCV000372647]|not provided [RCV001358148]|not specified [RCV003150996] Chr4:54274918 [GRCh38]
Chr4:55141085 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) single nucleotide variant Gastrointestinal stromal tumor [RCV000229858]|Hereditary cancer-predisposing syndrome [RCV001027068]|Idiopathic hypereosinophilic syndrome [RCV000368562]|not provided [RCV003884423] Chr4:54267330 [GRCh38]
Chr4:55133497 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.231C>T (p.Asn77=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230073]|Hereditary cancer-predisposing syndrome [RCV001015173]|PDGFRA-related condition [RCV003947785] Chr4:54261276 [GRCh38]
Chr4:55127443 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.2088C>T (p.His696=) single nucleotide variant Gastrointestinal stromal tumor [RCV001399202]|Hereditary cancer-predisposing syndrome [RCV002418018] Chr4:54278447 [GRCh38]
Chr4:55144614 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2997G>C (p.Lys999Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000228338] Chr4:54290429 [GRCh38]
Chr4:55156596 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000228500]|Hereditary cancer-predisposing syndrome [RCV001010980]|Ovarian cancer [RCV003153535]|PDGFRA-related condition [RCV003977670]|not provided [RCV003148689] Chr4:54272475 [GRCh38]
Chr4:55138642 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.420G>A (p.Val140=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230459]|Hereditary cancer-predisposing syndrome [RCV001022059] Chr4:54263719 [GRCh38]
Chr4:55129886 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.1282A>G (p.Thr428Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000230513]|not provided [RCV002461004] Chr4:54272438 [GRCh38]
Chr4:55138605 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.517G>A (p.Asp173Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000230573]|Hereditary cancer-predisposing syndrome [RCV001023673]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475831] Chr4:54263816 [GRCh38]
Chr4:55129983 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2469C>T (p.Asn823=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230779]|Hereditary cancer-predisposing syndrome [RCV001015454]|PDGFRA-related condition [RCV003955348] Chr4:54285870 [GRCh38]
Chr4:55152037 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2880+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000228693]|Hereditary cancer-predisposing syndrome [RCV001016848]|PDGFRA-related condition [RCV003409352] Chr4:54289119 [GRCh38]
Chr4:55155286 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1283C>T (p.Thr428Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000228913]|Hereditary cancer-predisposing syndrome [RCV002379009]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475830] Chr4:54272439 [GRCh38]
Chr4:55138606 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230872]|Hereditary cancer-predisposing syndrome [RCV001016465]|Idiopathic hypereosinophilic syndrome [RCV000287093]|PDGFRA-related condition [RCV003907876]|not provided [RCV003437025] Chr4:54288866 [GRCh38]
Chr4:55155033 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230924]|Hereditary cancer-predisposing syndrome [RCV001019318]|Idiopathic hypereosinophilic syndrome [RCV000301520] Chr4:54295230 [GRCh38]
Chr4:55161397 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.669C>T (p.Thr223=) single nucleotide variant Gastrointestinal stromal tumor [RCV000229075]|Hereditary cancer-predisposing syndrome [RCV001025544] Chr4:54264959 [GRCh38]
Chr4:55131126 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1401C>A (p.Asn467Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000231459]|Hereditary cancer-predisposing syndrome [RCV002392706] Chr4:54273573 [GRCh38]
Chr4:55139740 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3179T>A (p.Ile1060Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000229701]|Hereditary cancer-predisposing syndrome [RCV001019014]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV001535433]|not provided [RCV003235156] Chr4:54295181 [GRCh38]
Chr4:55161348 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000229738]|Hereditary cancer-predisposing syndrome [RCV001011216]|PDGFRA-related condition [RCV003401180]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003325195]|not provided [RCV002254919] Chr4:54273560 [GRCh38]
Chr4:55139727 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.162A>G (p.Glu54=) single nucleotide variant Gastrointestinal stromal tumor [RCV001418775]|Hereditary cancer-predisposing syndrome [RCV002401894] Chr4:54261207 [GRCh38]
Chr4:55127374 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1296G>A (p.Thr432=) single nucleotide variant Gastrointestinal stromal tumor [RCV000231755]|Hereditary cancer-predisposing syndrome [RCV001010812]|not specified [RCV001818621] Chr4:54272452 [GRCh38]
Chr4:55138619 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.3083T>C (p.Val1028Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000230125]|Hereditary cancer-predisposing syndrome [RCV002319470]|not provided [RCV003332155] Chr4:54290515 [GRCh38]
Chr4:55156682 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His) single nucleotide variant Gastrointestinal stromal tumor [RCV000232212]|Idiopathic hypereosinophilic syndrome [RCV001148976]|Ovarian cancer [RCV003153538]|not provided [RCV003225051] Chr4:54290374 [GRCh38]
Chr4:55156541 [GRCh37]
Chr4:4q12		 likely pathogenic|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3003G>A (p.Lys1001=) single nucleotide variant Gastrointestinal stromal tumor [RCV000232318]|Hereditary cancer-predisposing syndrome [RCV001017995]|not provided [RCV003736659] Chr4:54290435 [GRCh38]
Chr4:55156602 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.612_613inv (p.Val205Ile) inversion Gastrointestinal stromal tumor [RCV000232375]|Hereditary cancer-predisposing syndrome [RCV002354662] Chr4:54263911..54263912 [GRCh38]
Chr4:55130078..55130079 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=) single nucleotide variant Gastrointestinal stromal tumor [RCV000232491]|Hereditary cancer-predisposing syndrome [RCV001010986]|Idiopathic hypereosinophilic syndrome [RCV000302196] Chr4:54272476 [GRCh38]
Chr4:55138643 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.983A>G (p.Asn328Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000230626] Chr4:54267603 [GRCh38]
Chr4:55133770 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1782G>A (p.Val594=) single nucleotide variant Gastrointestinal stromal tumor [RCV000230714]|Hereditary cancer-predisposing syndrome [RCV002401896] Chr4:54274969 [GRCh38]
Chr4:55141136 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.322G>A (p.Glu108Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000232670]|Inborn genetic diseases [RCV002519798] Chr4:54261367 [GRCh38]
Chr4:55127534 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.842C>T (p.Thr281Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000232711]|Hereditary cancer-predisposing syndrome [RCV002444904]|not provided [RCV002509330] Chr4:54267371 [GRCh38]
Chr4:55133538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+7G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000232928] Chr4:54280489 [GRCh38]
Chr4:55146656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1663T>C (p.Tyr555His) single nucleotide variant Gastrointestinal stromal tumor [RCV000231170] Chr4:54274850 [GRCh38]
Chr4:55141017 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000231363]|Hereditary cancer-predisposing syndrome [RCV002258849]|Idiopathic hypereosinophilic syndrome [RCV000405809] Chr4:54277492 [GRCh38]
Chr4:55143659 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.2205G>A (p.Lys735=) single nucleotide variant Gastrointestinal stromal tumor [RCV000225982]|Hereditary cancer-predisposing syndrome [RCV001014723]|not provided [RCV003326382] Chr4:54280364 [GRCh38]
Chr4:55146531 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.318G>A (p.Gln106=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233122] Chr4:54261363 [GRCh38]
Chr4:55127530 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) single nucleotide variant Gastrointestinal stromal tumor [RCV000231467]|Hereditary cancer-predisposing syndrome [RCV001014070]|Idiopathic hypereosinophilic syndrome [RCV000370561]|not provided [RCV001552849]|not specified [RCV001818622] Chr4:54261246 [GRCh38]
Chr4:55127413 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.674A>G (p.Tyr225Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000231929] Chr4:54264964 [GRCh38]
Chr4:55131131 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1422G>A (p.Thr474=) single nucleotide variant Gastrointestinal stromal tumor [RCV000226440]|Hereditary cancer-predisposing syndrome [RCV001011517]|not provided [RCV002461005] Chr4:54273594 [GRCh38]
Chr4:55139761 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2080C>T (p.Leu694=) single nucleotide variant Gastrointestinal stromal tumor [RCV001393939]|Hereditary cancer-predisposing syndrome [RCV002418017] Chr4:54278439 [GRCh38]
Chr4:55144606 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2989G>A (p.Glu997Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000226613] Chr4:54290421 [GRCh38]
Chr4:55156588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2691C>T (p.Pro897=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233637]|Hereditary cancer-predisposing syndrome [RCV001016326]|PDGFRA-related condition [RCV003919968] Chr4:54288815 [GRCh38]
Chr4:55154982 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=) single nucleotide variant Gastrointestinal stromal tumor [RCV000232033]|Hereditary cancer-predisposing syndrome [RCV001026359]|PDGFRA-related condition [RCV003417826]|not provided [RCV003736660] Chr4:54265028 [GRCh38]
Chr4:55131195 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.20C>T (p.Ala7Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000232147]|Hereditary cancer-predisposing syndrome [RCV001014435] Chr4:54258788 [GRCh38]
Chr4:55124955 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) single nucleotide variant Gastrointestinal stromal tumor [RCV000226847]|Hereditary cancer-predisposing syndrome [RCV001018859]|Idiopathic hypereosinophilic syndrome [RCV000346045]|not provided [RCV001565225] Chr4:54295158 [GRCh38]
Chr4:55161325 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.1121+5A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000227010] Chr4:54267746 [GRCh38]
Chr4:55133913 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.995T>A (p.Val332Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000227020] Chr4:54267615 [GRCh38]
Chr4:55133782 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1494C>T (p.Ala498=) single nucleotide variant Gastrointestinal stromal tumor [RCV000227107]|Hereditary cancer-predisposing syndrome [RCV002392708]|PDGFRA-related condition [RCV003897556] Chr4:54273666 [GRCh38]
Chr4:55139833 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1203T>C (p.Ala401=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233836]|Hereditary cancer-predisposing syndrome [RCV002347892] Chr4:54270714 [GRCh38]
Chr4:55136881 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His) single nucleotide variant Gastrointestinal stromal tumor [RCV000234041]|Hereditary cancer-predisposing syndrome [RCV002401895]|Idiopathic hypereosinophilic syndrome [RCV003133193] Chr4:54274860 [GRCh38]
Chr4:55141027 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1644T>C (p.Ile548=) single nucleotide variant Gastrointestinal stromal tumor [RCV000227210]|Hereditary cancer-predisposing syndrome [RCV001012514]|PDGFRA-related condition [RCV003967651] Chr4:54274616 [GRCh38]
Chr4:55140783 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.49+4C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000234462]|Hereditary cancer-predisposing syndrome [RCV001023235] Chr4:54258821 [GRCh38]
Chr4:55124988 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.987G>T (p.Leu329=) single nucleotide variant Gastrointestinal stromal tumor [RCV001470962] Chr4:54267607 [GRCh38]
Chr4:55133774 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1113G>A (p.Gln371=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233176]|Hereditary cancer-predisposing syndrome [RCV001017363] Chr4:54267733 [GRCh38]
Chr4:55133900 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000233265]|Hereditary cancer-predisposing syndrome [RCV001011652]|Idiopathic hypereosinophilic syndrome [RCV001144161]|not provided [RCV000658998] Chr4:54273622 [GRCh38]
Chr4:55139789 [GRCh37]
Chr4:4q12		 benign|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2265C>T (p.Ser755=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233384]|Hereditary cancer-predisposing syndrome [RCV001014980] Chr4:54280424 [GRCh38]
Chr4:55146591 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000227792]|Hereditary cancer-predisposing syndrome [RCV001018595]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003483588]|not provided [RCV003165633] Chr4:54267428 [GRCh38]
Chr4:55133595 [GRCh37]
Chr4:4q12		 uncertain significance|not provided
NM_006206.6(PDGFRA):c.2421G>A (p.Glu807=) single nucleotide variant Gastrointestinal stromal tumor [RCV000227905]|Hereditary cancer-predisposing syndrome [RCV001015468]|PDGFRA-related condition [RCV003929975] Chr4:54285468 [GRCh38]
Chr4:55151635 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000234684]|Hereditary cancer-predisposing syndrome [RCV001013223]|Idiopathic hypereosinophilic syndrome [RCV001145844]|Ovarian cancer [RCV003153537] Chr4:54258785 [GRCh38]
Chr4:55124952 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.759+7A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000225875] Chr4:54265056 [GRCh38]
Chr4:55131223 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1896G>A (p.Thr632=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233663]|Hereditary cancer-predisposing syndrome [RCV001013526]|PDGFRA-related condition [RCV003919967] Chr4:54277900 [GRCh38]
Chr4:55144067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) single nucleotide variant Gastrointestinal stromal tumor [RCV000233737]|Hereditary cancer-predisposing syndrome [RCV001016545]|Idiopathic hypereosinophilic syndrome [RCV000317959]|not provided [RCV001706264] Chr4:54261321 [GRCh38]
Chr4:55127488 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.1283C>G (p.Thr428Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000233937]|Hereditary cancer-predisposing syndrome [RCV002379008] Chr4:54272439 [GRCh38]
Chr4:55138606 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) single nucleotide variant Gastrointestinal stromal tumor [RCV000226161]|Hereditary cancer-predisposing syndrome [RCV001018228]|Idiopathic hypereosinophilic syndrome [RCV001148977]|PDGFRA-related condition [RCV003967652] Chr4:54290471 [GRCh38]
Chr4:55156638 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.721G>A (p.Glu241Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000226332] Chr4:54265011 [GRCh38]
Chr4:55131178 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.628+4C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000234109]|Hereditary cancer-predisposing syndrome [RCV001025077] Chr4:54263931 [GRCh38]
Chr4:55130098 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.555G>T (p.Gly185=) single nucleotide variant Gastrointestinal stromal tumor [RCV000234569]|Hereditary cancer-predisposing syndrome [RCV002347893] Chr4:54263854 [GRCh38]
Chr4:55130021 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1849C>T (p.Arg617Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV000228510] Chr4:54277450 [GRCh38]
Chr4:55143617 [GRCh37]
Chr4:4q12		 likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.1951C>T (p.Leu651=) single nucleotide variant Gastrointestinal stromal tumor [RCV001403194] Chr4:54277955 [GRCh38]
Chr4:55144122 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.273G>A (p.Ser91=) single nucleotide variant Gastrointestinal stromal tumor [RCV000226905]|Hereditary cancer-predisposing syndrome [RCV001016456]|PDGFRA-related condition [RCV003897557] Chr4:54261318 [GRCh38]
Chr4:55127485 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3211G>A (p.Asp1071Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000226955]|Hereditary cancer-predisposing syndrome [RCV001019270]|PDGFRA-related condition [RCV003409353] Chr4:54295213 [GRCh38]
Chr4:55161380 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.727G>A (p.Val243Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000229176] Chr4:54265017 [GRCh38]
Chr4:55131184 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1436G>A (p.Arg479Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000229276]|Hereditary cancer-predisposing syndrome [RCV002392707]|not provided [RCV003153536] Chr4:54273608 [GRCh38]
Chr4:55139775 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1461T>C (p.Arg487=) single nucleotide variant Gastrointestinal stromal tumor [RCV000548613]|Hereditary cancer-predisposing syndrome [RCV002395325]|PDGFRA-related condition [RCV003900136] Chr4:54273633 [GRCh38]
Chr4:55139800 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.11C>T (p.Ser4Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000545506]|Hereditary cancer-predisposing syndrome [RCV002350206] Chr4:54258779 [GRCh38]
Chr4:55124946 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3076G>A (p.Asp1026Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000525361] Chr4:54290508 [GRCh38]
Chr4:55156675 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.943A>G (p.Ile315Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001367669] Chr4:54267563 [GRCh38]
Chr4:55133730 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.5(PDGFRA):c.-318G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000374693]|Idiopathic hypereosinophilic syndrome [RCV000280196] Chr4:54229110 [GRCh38]
Chr4:55095277 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*2538G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000281031]|Idiopathic hypereosinophilic syndrome [RCV000338360] Chr4:54297810 [GRCh38]
Chr4:55163977 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*1109_*1111del deletion Gastrointestinal stromal tumor [RCV000282283]|Idiopathic hypereosinophilic syndrome [RCV000334944] Chr4:54296368..54296370 [GRCh38]
Chr4:55162535..55162537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+28C>T single nucleotide variant not provided [RCV001636791]|not specified [RCV000241697] Chr4:54267769 [GRCh38]
Chr4:55133936 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) single nucleotide variant Gastrointestinal stromal tumor [RCV000377030]|Hereditary cancer-predisposing syndrome [RCV001019258]|Idiopathic hypereosinophilic syndrome [RCV000322335]|not provided [RCV001696196]|not specified [RCV000244224] Chr4:54267559 [GRCh38]
Chr4:55133726 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*2970G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000271228]|Idiopathic hypereosinophilic syndrome [RCV000365753]|not provided [RCV003437107] Chr4:54298242 [GRCh38]
Chr4:55164409 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.368-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000278535]|Hereditary cancer-predisposing syndrome [RCV001020873]|Idiopathic hypereosinophilic syndrome [RCV000324308]|not provided [RCV001675732]|not specified [RCV000247274] Chr4:54263664 [GRCh38]
Chr4:55129831 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=) single nucleotide variant Gastrointestinal stromal tumor [RCV000403882]|Hereditary cancer-predisposing syndrome [RCV001024925]|Idiopathic hypereosinophilic syndrome [RCV000339285]|not provided [RCV001598640]|not specified [RCV000252228] Chr4:54263911 [GRCh38]
Chr4:55130078 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) single nucleotide variant Carcinoma of colon [RCV001358039]|Gastrointestinal stromal tumor [RCV000281727]|Hereditary cancer-predisposing syndrome [RCV001012777]|Idiopathic hypereosinophilic syndrome [RCV000385643]|Squamous cell lung carcinoma [RCV001250951]|not provided [RCV001711565]|not specified [RCV000250036] Chr4:54274888 [GRCh38]
Chr4:55141055 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.1023C>T (p.Ala341=) single nucleotide variant Gastrointestinal stromal tumor [RCV000525311]|Hereditary cancer-predisposing syndrome [RCV001017043] Chr4:54267643 [GRCh38]
Chr4:55133810 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-10T>G single nucleotide variant Gastrointestinal stromal tumor [RCV000551342]|PDGFRA-related condition [RCV003925605] Chr4:54273527 [GRCh38]
Chr4:55139694 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) single nucleotide variant Gastrointestinal stromal tumor [RCV000278036]|Hereditary cancer-predisposing syndrome [RCV001013259]|Idiopathic hypereosinophilic syndrome [RCV000342427]|not provided [RCV001610668]|not specified [RCV000242800] Chr4:54277410 [GRCh38]
Chr4:55143577 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*2336T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000266344]|Idiopathic hypereosinophilic syndrome [RCV000323771] Chr4:54297608 [GRCh38]
Chr4:55163775 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.*1561T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000275520]|Idiopathic hypereosinophilic syndrome [RCV000319005] Chr4:54296833 [GRCh38]
Chr4:55163000 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) single nucleotide variant Gastrointestinal stromal tumor [RCV000369832]|Hereditary cancer-predisposing syndrome [RCV001015670]|Idiopathic hypereosinophilic syndrome [RCV000275201]|not provided [RCV001668519]|not specified [RCV000247800] Chr4:54285873 [GRCh38]
Chr4:55152040 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3123-38C>T single nucleotide variant not provided [RCV001709545]|not specified [RCV000252747] Chr4:54295087 [GRCh38]
Chr4:55161254 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.49+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000529034] Chr4:54258826 [GRCh38]
Chr4:55124993 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*1511C>A single nucleotide variant Gastrointestinal stromal tumor [RCV000275685]|Idiopathic hypereosinophilic syndrome [RCV000363331] Chr4:54296783 [GRCh38]
Chr4:55162950 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000275997]|Hereditary cancer-predisposing syndrome [RCV002392912]|Idiopathic hypereosinophilic syndrome [RCV000331094]|not provided [RCV002282124] Chr4:54273643 [GRCh38]
Chr4:55139810 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=) single nucleotide variant Gastrointestinal stromal tumor [RCV000344752]|Hereditary cancer-predisposing syndrome [RCV001019308]|Idiopathic hypereosinophilic syndrome [RCV000403157]|not provided [RCV001660297]|not specified [RCV000243112] Chr4:54295224 [GRCh38]
Chr4:55161391 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2674+3A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000525715]|Hereditary cancer-predisposing syndrome [RCV001016281] Chr4:54287544 [GRCh38]
Chr4:55153711 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.904A>T (p.Met302Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000552216] Chr4:54267433 [GRCh38]
Chr4:55133600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000361893]|Hereditary cancer-predisposing syndrome [RCV001019171]|Idiopathic hypereosinophilic syndrome [RCV000267219]|not provided [RCV001706564] Chr4:54267548 [GRCh38]
Chr4:55133715 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000314872]|Hereditary cancer-predisposing syndrome [RCV002446603]|Idiopathic hypereosinophilic syndrome [RCV000269138]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475933] Chr4:54280425 [GRCh38]
Chr4:55146592 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.180C>T (p.Pro60=) single nucleotide variant Gastrointestinal stromal tumor [RCV000552601]|Hereditary cancer-predisposing syndrome [RCV002413471] Chr4:54261225 [GRCh38]
Chr4:55127392 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*2559G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000404419]|Idiopathic hypereosinophilic syndrome [RCV000298710] Chr4:54297831 [GRCh38]
Chr4:55163998 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) single nucleotide variant Gastrointestinal stromal tumor [RCV000404762]|Hereditary cancer-predisposing syndrome [RCV001025587]|Idiopathic hypereosinophilic syndrome [RCV000313897]|not provided [RCV001541418]|not specified [RCV001821060] Chr4:54264962 [GRCh38]
Chr4:55131129 [GRCh37]
Chr4:4q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006206.6(PDGFRA):c.1122-6T>A single nucleotide variant Gastrointestinal stromal tumor [RCV000300104]|Idiopathic hypereosinophilic syndrome [RCV000404691] Chr4:54270627 [GRCh38]
Chr4:55136794 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000356042]|Hereditary cancer-predisposing syndrome [RCV001027358]|Idiopathic hypereosinophilic syndrome [RCV000301188]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV002254694] Chr4:54267356 [GRCh38]
Chr4:55133523 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.5(PDGFRA):c.-284G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000335007]|Idiopathic hypereosinophilic syndrome [RCV000402885]|not provided [RCV003430889] Chr4:54229144 [GRCh38]
Chr4:55095311 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*505A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000336786]|Idiopathic hypereosinophilic syndrome [RCV000404487] Chr4:54295777 [GRCh38]
Chr4:55161944 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*1137G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000302968]|Idiopathic hypereosinophilic syndrome [RCV000346108] Chr4:54296409 [GRCh38]
Chr4:55162576 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*1809G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000379452]|Idiopathic hypereosinophilic syndrome [RCV000317878] Chr4:54297081 [GRCh38]
Chr4:55163248 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000391349]|Hereditary cancer-predisposing syndrome [RCV002323555]|Idiopathic hypereosinophilic syndrome [RCV000287548]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV002291620]|not provided [RCV003228924] Chr4:54295193 [GRCh38]
Chr4:55161360 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*1821A>C single nucleotide variant Gastrointestinal stromal tumor [RCV000287262]|Idiopathic hypereosinophilic syndrome [RCV000339987] Chr4:54297093 [GRCh38]
Chr4:55163260 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000287493]|Idiopathic hypereosinophilic syndrome [RCV000381886] Chr4:54267615 [GRCh38]
Chr4:55133782 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.5(PDGFRA):c.-284G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000340661]|Idiopathic hypereosinophilic syndrome [RCV000304521] Chr4:54229144 [GRCh38]
Chr4:55095311 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2604G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000403623]|Idiopathic hypereosinophilic syndrome [RCV000360551] Chr4:54297876 [GRCh38]
Chr4:55164043 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1928G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000377861]|Idiopathic hypereosinophilic syndrome [RCV000290370] Chr4:54297200 [GRCh38]
Chr4:55163367 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*78A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000383574]|Idiopathic hypereosinophilic syndrome [RCV000291645]|not provided [RCV001653676] Chr4:54295350 [GRCh38]
Chr4:55161517 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*1429C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000306421]|Idiopathic hypereosinophilic syndrome [RCV000406620] Chr4:54296701 [GRCh38]
Chr4:55162868 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*51G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000323630]|Idiopathic hypereosinophilic syndrome [RCV000361923] Chr4:54295323 [GRCh38]
Chr4:55161490 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*374A>C single nucleotide variant Gastrointestinal stromal tumor [RCV000293558]|Idiopathic hypereosinophilic syndrome [RCV000391591]|not provided [RCV001618623] Chr4:54295646 [GRCh38]
Chr4:55161813 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*332G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000352542]|Idiopathic hypereosinophilic syndrome [RCV000295323] Chr4:54295604 [GRCh38]
Chr4:55161771 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.5(PDGFRA):c.-170C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000406521]|Idiopathic hypereosinophilic syndrome [RCV000310593] Chr4:54229258 [GRCh38]
Chr4:55095425 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*832T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000366137]|Idiopathic hypereosinophilic syndrome [RCV000327795] Chr4:54296104 [GRCh38]
Chr4:55162271 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*1939T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000347783]|Idiopathic hypereosinophilic syndrome [RCV000391485] Chr4:54297211 [GRCh38]
Chr4:55163378 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*2496A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000296213]|Idiopathic hypereosinophilic syndrome [RCV000388160] Chr4:54297768 [GRCh38]
Chr4:55163935 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*2504C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000391743]|Idiopathic hypereosinophilic syndrome [RCV000348682]|not provided [RCV002253385] Chr4:54297776 [GRCh38]
Chr4:55163943 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*534A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000354171]|Idiopathic hypereosinophilic syndrome [RCV000296910] Chr4:54295806 [GRCh38]
Chr4:55161973 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*2256G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000297012]|Idiopathic hypereosinophilic syndrome [RCV000354254] Chr4:54297528 [GRCh38]
Chr4:55163695 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.*2110C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000402733]|Idiopathic hypereosinophilic syndrome [RCV000311780] Chr4:54297382 [GRCh38]
Chr4:55163549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000311959]|Hereditary cancer-predisposing syndrome [RCV001019316]|Idiopathic hypereosinophilic syndrome [RCV000368950] Chr4:54295230 [GRCh38]
Chr4:55161397 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=) single nucleotide variant Gastrointestinal stromal tumor [RCV000330201]|Hereditary cancer-predisposing syndrome [RCV003168532]|Idiopathic hypereosinophilic syndrome [RCV000375501] Chr4:54287441 [GRCh38]
Chr4:55153608 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*2856A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000325179]|Idiopathic hypereosinophilic syndrome [RCV000270058] Chr4:54298128 [GRCh38]
Chr4:55164295 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1706T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000260085]|Idiopathic hypereosinophilic syndrome [RCV000375962] Chr4:54296978 [GRCh38]
Chr4:55163145 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-12T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000271746]|Idiopathic hypereosinophilic syndrome [RCV000366405] Chr4:54273525 [GRCh38]
Chr4:55139692 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+6G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000262358]|Idiopathic hypereosinophilic syndrome [RCV000317523] Chr4:54287547 [GRCh38]
Chr4:55153714 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*72C>A single nucleotide variant Gastrointestinal stromal tumor [RCV000322114]|Idiopathic hypereosinophilic syndrome [RCV000264597] Chr4:54295344 [GRCh38]
Chr4:55161511 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) single nucleotide variant Gastrointestinal stromal tumor [RCV000331199]|Hereditary cancer-predisposing syndrome [RCV003168531]|Idiopathic hypereosinophilic syndrome [RCV000276070] Chr4:54261264 [GRCh38]
Chr4:55127431 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*970CAAA[1] microsatellite Gastrointestinal stromal tumor [RCV000388099]|Idiopathic hypereosinophilic syndrome [RCV000277357] Chr4:54296239..54296242 [GRCh38]
Chr4:55162406..55162409 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*936A>C single nucleotide variant Gastrointestinal stromal tumor [RCV000269213]|Idiopathic hypereosinophilic syndrome [RCV000326578] Chr4:54296208 [GRCh38]
Chr4:55162375 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3042T>C (p.Ala1014=) single nucleotide variant Gastrointestinal stromal tumor [RCV000549020]|Hereditary cancer-predisposing syndrome [RCV002448649] Chr4:54290474 [GRCh38]
Chr4:55156641 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.234C>T (p.Ser78=) single nucleotide variant Gastrointestinal stromal tumor [RCV000530619]|Hereditary cancer-predisposing syndrome [RCV003159765] Chr4:54261279 [GRCh38]
Chr4:55127446 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3207C>G (p.Asp1069Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003097679]|not provided [RCV002284804] Chr4:54295209 [GRCh38]
Chr4:55161376 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*5C>T single nucleotide variant not provided [RCV002286928] Chr4:54295277 [GRCh38]
Chr4:55161444 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.701C>T (p.Thr234Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001041024]|not provided [RCV000522735] Chr4:54264991 [GRCh38]
Chr4:55131158 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1429C>T (p.His477Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001990625] Chr4:54273601 [GRCh38]
Chr4:55139768 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=) single nucleotide variant Gastrointestinal stromal tumor [RCV000291083]|Hereditary cancer-predisposing syndrome [RCV002374596]|Idiopathic hypereosinophilic syndrome [RCV000327329] Chr4:54267574 [GRCh38]
Chr4:55133741 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=) single nucleotide variant Gastrointestinal stromal tumor [RCV000402807]|Hereditary cancer-predisposing syndrome [RCV001013266]|Idiopathic hypereosinophilic syndrome [RCV000303158] Chr4:54277422 [GRCh38]
Chr4:55143589 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*1521C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000314551]|Idiopathic hypereosinophilic syndrome [RCV000366850] Chr4:54296793 [GRCh38]
Chr4:55162960 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2123T>C (p.Phe708Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000549924]|Hereditary cancer-predisposing syndrome [RCV002420385] Chr4:54278482 [GRCh38]
Chr4:55144649 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1110_*1111del deletion Gastrointestinal stromal tumor [RCV000374432]|Idiopathic hypereosinophilic syndrome [RCV000331402] Chr4:54296368..54296369 [GRCh38]
Chr4:55162535..55162536 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.*574_*575del deletion Gastrointestinal stromal tumor [RCV000305133]|Idiopathic hypereosinophilic syndrome [RCV000404824] Chr4:54295846..54295847 [GRCh38]
Chr4:55162013..55162014 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-106AG[1] microsatellite Gastrointestinal stromal tumor [RCV000365137]|Idiopathic hypereosinophilic syndrome [RCV000396309]|not provided [RCV001692001] Chr4:54229322..54229323 [GRCh38]
Chr4:55095489..55095490 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.777A>G (p.Thr259=) single nucleotide variant Gastrointestinal stromal tumor [RCV000550591]|Hereditary cancer-predisposing syndrome [RCV002413475] Chr4:54267306 [GRCh38]
Chr4:55133473 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1071T>A (p.Ile357=) single nucleotide variant Gastrointestinal stromal tumor [RCV000550651]|Hereditary cancer-predisposing syndrome [RCV003278884] Chr4:54267691 [GRCh38]
Chr4:55133858 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*2840A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000360112]|Idiopathic hypereosinophilic syndrome [RCV000305421] Chr4:54298112 [GRCh38]
Chr4:55164279 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1971C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000308161]|Idiopathic hypereosinophilic syndrome [RCV000351322] Chr4:54297243 [GRCh38]
Chr4:55163410 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000363603]|Idiopathic hypereosinophilic syndrome [RCV000308856] Chr4:54278355 [GRCh38]
Chr4:55144522 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*1111del deletion Gastrointestinal stromal tumor [RCV000373338]|Idiopathic hypereosinophilic syndrome [RCV000285894] Chr4:54296368 [GRCh38]
Chr4:55162535 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.5(PDGFRA):c.*2973+14G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000331312]|Idiopathic hypereosinophilic syndrome [RCV000273850] Chr4:54298259 [GRCh38]
Chr4:55164426 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*2494C>A single nucleotide variant Gastrointestinal stromal tumor [RCV000287783]|Idiopathic hypereosinophilic syndrome [RCV000326338] Chr4:54297766 [GRCh38]
Chr4:55163933 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3105C>A (p.Gly1035=) single nucleotide variant Gastrointestinal stromal tumor [RCV000531132]|Hereditary cancer-predisposing syndrome [RCV002323933] Chr4:54290537 [GRCh38]
Chr4:55156704 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*136G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000325663]|Idiopathic hypereosinophilic syndrome [RCV000382571] Chr4:54295408 [GRCh38]
Chr4:55161575 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3246C>T (p.Asp1082=) single nucleotide variant Gastrointestinal stromal tumor [RCV000531437]|Hereditary cancer-predisposing syndrome [RCV003302794] Chr4:54295248 [GRCh38]
Chr4:55161415 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*2475C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000384626]|Idiopathic hypereosinophilic syndrome [RCV000327707] Chr4:54297747 [GRCh38]
Chr4:55163914 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1112_*1113del deletion Gastrointestinal stromal tumor [RCV000406141]|Idiopathic hypereosinophilic syndrome [RCV000343211] Chr4:54296383..54296384 [GRCh38]
Chr4:55162550..55162551 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2306A>G (p.Lys769Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000553089] Chr4:54280465 [GRCh38]
Chr4:55146632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1850G>A (p.Arg617Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000553651] Chr4:54277451 [GRCh38]
Chr4:55143618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2698A>T (p.Met900Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000531676] Chr4:54288822 [GRCh38]
Chr4:55154989 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-5C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000531758]|Hereditary cancer-predisposing syndrome [RCV001012156] Chr4:54274526 [GRCh38]
Chr4:55140693 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1891+2dup duplication Gastrointestinal stromal tumor [RCV000806377] Chr4:54277493..54277494 [GRCh38]
Chr4:55143660..55143661 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.571G>T (p.Ala191Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000529330] Chr4:54263870 [GRCh38]
Chr4:55130037 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2317A>G (p.Met773Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000529522]|Hereditary cancer-predisposing syndrome [RCV001015163] Chr4:54280476 [GRCh38]
Chr4:55146643 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1856A>G (p.Gln619Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000530086] Chr4:54277457 [GRCh38]
Chr4:55143624 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1895C>T (p.Thr632Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000555045]|Hereditary cancer-predisposing syndrome [RCV001013521]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003139756]|not provided [RCV001532021] Chr4:54277899 [GRCh38]
Chr4:55144066 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3090GGA[4] (p.Glu1032dup) microsatellite Gastrointestinal stromal tumor [RCV000555093] Chr4:54290519..54290520 [GRCh38]
Chr4:55156686..55156687 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.402G>A (p.Thr134=) single nucleotide variant Gastrointestinal stromal tumor [RCV000534131]|Hereditary cancer-predisposing syndrome [RCV002377030] Chr4:54263701 [GRCh38]
Chr4:55129868 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.437C>A (p.Ala146Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000534210]|Hereditary cancer-predisposing syndrome [RCV002330844] Chr4:54263736 [GRCh38]
Chr4:55129903 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2475C>G (p.Leu825=) single nucleotide variant Gastrointestinal stromal tumor [RCV001501771] Chr4:54285876 [GRCh38]
Chr4:55152043 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1295C>T (p.Thr432Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000534432]|Hereditary cancer-predisposing syndrome [RCV001010809] Chr4:54272451 [GRCh38]
Chr4:55138618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2163T>G (p.Val721=) single nucleotide variant Gastrointestinal stromal tumor [RCV000538857]|Hereditary cancer-predisposing syndrome [RCV001014653] Chr4:54280322 [GRCh38]
Chr4:55146489 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2980A>G (p.Lys994Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000535021]|Hereditary cancer-predisposing syndrome [RCV002438326] Chr4:54290412 [GRCh38]
Chr4:55156579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1108A>G (p.Ile370Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000539089]|Hereditary cancer-predisposing syndrome [RCV002431556] Chr4:54267728 [GRCh38]
Chr4:55133895 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.21G>A (p.Ala7=) single nucleotide variant Gastrointestinal stromal tumor [RCV000540261]|Hereditary cancer-predisposing syndrome [RCV002431559]|PDGFRA-related condition [RCV003960270] Chr4:54258789 [GRCh38]
Chr4:55124956 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.913G>A (p.Val305Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000533063]|Hereditary cancer-predisposing syndrome [RCV002377032] Chr4:54267442 [GRCh38]
Chr4:55133609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.272C>T (p.Ser91Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000539821]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476231] Chr4:54261317 [GRCh38]
Chr4:55127484 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000555574]|Hereditary cancer-predisposing syndrome [RCV002404394] Chr4:54274527 [GRCh38]
Chr4:55140694 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2574C>T (p.Pro858=) single nucleotide variant Gastrointestinal stromal tumor [RCV000541783]|Hereditary cancer-predisposing syndrome [RCV001015990] Chr4:54287441 [GRCh38]
Chr4:55153608 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1411A>C (p.Asn471His) single nucleotide variant Gastrointestinal stromal tumor [RCV000535773]|Hereditary cancer-predisposing syndrome [RCV001011469]|not provided [RCV003327414] Chr4:54273583 [GRCh38]
Chr4:55139750 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.755A>T (p.Glu252Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000538111] Chr4:54265045 [GRCh38]
Chr4:55131212 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.820A>T (p.Thr274Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000538238] Chr4:54267349 [GRCh38]
Chr4:55133516 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2679C>A (p.Gly893=) single nucleotide variant Gastrointestinal stromal tumor [RCV000538290]|Hereditary cancer-predisposing syndrome [RCV002431562] Chr4:54288803 [GRCh38]
Chr4:55154970 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2449C>G (p.Arg817Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000560803]|Hereditary cancer-predisposing syndrome [RCV002456077] Chr4:54285850 [GRCh38]
Chr4:55152017 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3040G>A (p.Ala1014Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000540806]|Hereditary cancer-predisposing syndrome [RCV002448648]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476232]|not provided [RCV003441920] Chr4:54290472 [GRCh38]
Chr4:55156639 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.670G>A (p.Val224Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000536629]|Hereditary cancer-predisposing syndrome [RCV002367793] Chr4:54264960 [GRCh38]
Chr4:55131127 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3069T>C (p.Pro1023=) single nucleotide variant Gastrointestinal stromal tumor [RCV000541128] Chr4:54290501 [GRCh38]
Chr4:55156668 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3073A>G (p.Ile1025Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000553620]|Hereditary cancer-predisposing syndrome [RCV001018469] Chr4:54290505 [GRCh38]
Chr4:55156672 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) single nucleotide variant Melanoma [RCV000423704] Chr4:54274916 [GRCh38]
Chr4:55141083 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala) single nucleotide variant Melanoma [RCV000434301] Chr4:54277977 [GRCh38]
Chr4:55144144 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.1682T>C (p.Val561Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000437945] Chr4:54274869 [GRCh38]
Chr4:55141036 [GRCh37]
Chr4:4q12		 not provided
NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV003638649]|Melanoma [RCV000427776] Chr4:54285934 [GRCh38]
Chr4:55152101 [GRCh37]
Chr4:4q12		 likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.2524_2525delinsAT (p.Asp842Ile) indel Gastrointestinal stromal tumor [RCV000437652] Chr4:54285925..54285926 [GRCh38]
Chr4:55152092..55152093 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.2522_2527del (p.Arg841_Asp842del) deletion Gastrointestinal stromal tumor [RCV000428031] Chr4:54285921..54285926 [GRCh38]
Chr4:55152088..55152093 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.2524_2532del (p.Asp842_Met844del) deletion Gastrointestinal stromal tumor [RCV000421502] Chr4:54285925..54285933 [GRCh38]
Chr4:55152092..55152100 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.2524G>T (p.Asp842Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000439137] Chr4:54285925 [GRCh38]
Chr4:55152092 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.2527_2538del (p.Ile843_Asp846del) deletion Gastrointestinal stromal tumor [RCV000439347] Chr4:54285928..54285939 [GRCh38]
Chr4:55152095..55152106 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.4(PDGFRA):c.2524_2535delGACATCATGCAT (p.Ile843_Asp846del) deletion Gastrointestinal stromal tumor [RCV000429111] Chr4:54285925..54285936 [GRCh38]
Chr4:55152092..55152103 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) single nucleotide variant Melanoma [RCV000443097] Chr4:54285923 [GRCh38]
Chr4:55152090 [GRCh37]
Chr4:4q12		 likely pathogenic
NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000429785] Chr4:54277981 [GRCh38]
Chr4:55144148 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002524692]|Melanoma [RCV000433255] Chr4:54285959 [GRCh38]
Chr4:55152126 [GRCh37]
Chr4:4q12		 likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000419062] Chr4:54277981 [GRCh38]
Chr4:55144148 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.1700_1701delinsGG (p.Pro567Arg) indel Gastrointestinal stromal tumor [RCV000459085] Chr4:54274887..54274888 [GRCh38]
Chr4:55141054..55141055 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1475A>C (p.Lys492Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000466474]|Hereditary cancer-predisposing syndrome [RCV002393109] Chr4:54273647 [GRCh38]
Chr4:55139814 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000466521]|Gastrointestinal stromal tumor [RCV000764539]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV001809346] Chr4:54274623 [GRCh38]
Chr4:55140790 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2985C>T (p.Asn995=) single nucleotide variant Gastrointestinal stromal tumor [RCV000466678]|Hereditary cancer-predisposing syndrome [RCV001017792] Chr4:54290417 [GRCh38]
Chr4:55156584 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2725A>T (p.Ile909Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000470216] Chr4:54288849 [GRCh38]
Chr4:55155016 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1018C>T (p.Arg340Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV000473903]|Inborn genetic diseases [RCV002526410]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476043] Chr4:54267638 [GRCh38]
Chr4:55133805 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000474034]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV001292813] Chr4:54278434 [GRCh38]
Chr4:55144601 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000474089]|Hereditary cancer-predisposing syndrome [RCV001015681]|Ovarian cancer [RCV003153613]|PDGFRA-related condition [RCV003970283]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476050]|not provided [RCV003225070] Chr4:54261293 [GRCh38]
Chr4:55127460 [GRCh37]
Chr4:4q12		 likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.1449C>T (p.Thr483=) single nucleotide variant Gastrointestinal stromal tumor [RCV000459245]|Hereditary cancer-predisposing syndrome [RCV002393193] Chr4:54273621 [GRCh38]
Chr4:55139788 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3114C>G (p.Asn1038Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000459312]|Hereditary cancer-predisposing syndrome [RCV002323707] Chr4:54290546 [GRCh38]
Chr4:55156713 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3197C>T (p.Thr1066Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000470552] Chr4:54295199 [GRCh38]
Chr4:55161366 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000474365]|Gastrointestinal stromal tumor [RCV000764540]|Hereditary cancer-predisposing syndrome [RCV002436409]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003153611]|not provided [RCV001764392] Chr4:54290397 [GRCh38]
Chr4:55156564 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.628+9A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001465313] Chr4:54263936 [GRCh38]
Chr4:55130103 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.594C>G (p.Phe198Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000462670] Chr4:54263893 [GRCh38]
Chr4:55130060 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000459421]|Hereditary cancer-predisposing syndrome [RCV001018312]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476045]|not provided [RCV002464201] Chr4:54267406 [GRCh38]
Chr4:55133573 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.890G>A (p.Arg297Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000459535]|Hereditary cancer-predisposing syndrome [RCV002374769] Chr4:54267419 [GRCh38]
Chr4:55133586 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000463210]|Gastrointestinal stromal tumor [RCV000764537]|Hereditary cancer-predisposing syndrome [RCV002374770]|PDGFRA-related condition [RCV003970282]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476049]|not provided [RCV001544625] Chr4:54272430 [GRCh38]
Chr4:55138597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.967C>G (p.Gln323Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000467030]|Hereditary cancer-predisposing syndrome [RCV001019616]|PDGFRA-related condition [RCV003418171] Chr4:54267587 [GRCh38]
Chr4:55133754 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+4C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000467107]|Hereditary cancer-predisposing syndrome [RCV001015942]|PDGFRA-related condition [RCV003899915] Chr4:54285967 [GRCh38]
Chr4:55152134 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.103A>G (p.Asn35Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000470819]|Hereditary cancer-predisposing syndrome [RCV002393111] Chr4:54261148 [GRCh38]
Chr4:55127315 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1559-11_1559-10del deletion Gastrointestinal stromal tumor [RCV000474385] Chr4:54274520..54274521 [GRCh38]
Chr4:55140687..55140688 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.94C>A (p.Pro32Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000466810]|Hereditary cancer-predisposing syndrome [RCV002374768]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476041] Chr4:54261139 [GRCh38]
Chr4:55127306 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1170C>T (p.Gly390=) single nucleotide variant Gastrointestinal stromal tumor [RCV000468692] Chr4:54270681 [GRCh38]
Chr4:55136848 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1103A>G (p.Glu368Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000459793] Chr4:54267723 [GRCh38]
Chr4:55133890 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.531C>T (p.Gly177=) single nucleotide variant Gastrointestinal stromal tumor [RCV000463460]|Hereditary cancer-predisposing syndrome [RCV002350014] Chr4:54263830 [GRCh38]
Chr4:55129997 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1243T>C (p.Ser415Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000463519]|Hereditary cancer-predisposing syndrome [RCV002379440]|not provided [RCV003226929] Chr4:54272399 [GRCh38]
Chr4:55138566 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1459C>A (p.Arg487Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000463566]|Hereditary cancer-predisposing syndrome [RCV002393105] Chr4:54273631 [GRCh38]
Chr4:55139798 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2541G>A (p.Ser847=) single nucleotide variant Gastrointestinal stromal tumor [RCV000467199]|Hereditary cancer-predisposing syndrome [RCV002257744] Chr4:54285942 [GRCh38]
Chr4:55152109 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3004G>A (p.Asp1002Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000470965] Chr4:54290436 [GRCh38]
Chr4:55156603 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.133T>C (p.Phe45Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000474628]|Hereditary cancer-predisposing syndrome [RCV001010942] Chr4:54261178 [GRCh38]
Chr4:55127345 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775-10G>C single nucleotide variant Gastrointestinal stromal tumor [RCV001446523] Chr4:54288999 [GRCh38]
Chr4:55155166 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.516C>T (p.Tyr172=) single nucleotide variant Gastrointestinal stromal tumor [RCV000470111]|Hereditary cancer-predisposing syndrome [RCV002341089]|Lung sarcomatoid carcinoma [RCV003322606] Chr4:54263815 [GRCh38]
Chr4:55129982 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000456218]|Hereditary cancer-predisposing syndrome [RCV002402249]|Idiopathic hypereosinophilic syndrome [RCV002480385]|not provided [RCV003126744] Chr4:54274845 [GRCh38]
Chr4:55141012 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.60A>C (p.Leu20=) single nucleotide variant Gastrointestinal stromal tumor [RCV001392167]|Hereditary cancer-predisposing syndrome [RCV002356735] Chr4:54261105 [GRCh38]
Chr4:55127272 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1425G>T (p.Glu475Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000471079]|Hereditary cancer-predisposing syndrome [RCV001011483]|not provided [RCV003228930] Chr4:54273597 [GRCh38]
Chr4:55139764 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2361A>C (p.Ser787=) single nucleotide variant Gastrointestinal stromal tumor [RCV001485605]|Hereditary cancer-predisposing syndrome [RCV002446874] Chr4:54285408 [GRCh38]
Chr4:55151575 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1411A>G (p.Asn471Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000474852]|Hereditary cancer-predisposing syndrome [RCV003168779] Chr4:54273583 [GRCh38]
Chr4:55139750 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-4del deletion Gastrointestinal stromal tumor [RCV000474944] Chr4:54280312 [GRCh38]
Chr4:55146479 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1754G>T (p.Arg585Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000475013] Chr4:54274941 [GRCh38]
Chr4:55141108 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2534A>G (p.His845Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000456448]|Hereditary cancer-predisposing syndrome [RCV002451100]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476047] Chr4:54285935 [GRCh38]
Chr4:55152102 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1237+3A>T single nucleotide variant Gastrointestinal stromal tumor [RCV000460050]|Hereditary cancer-predisposing syndrome [RCV001010485]|not provided [RCV001770323] Chr4:54270751 [GRCh38]
Chr4:55136918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.834C>T (p.Pro278=) single nucleotide variant Gastrointestinal stromal tumor [RCV000460189]|Hereditary cancer-predisposing syndrome [RCV002436489] Chr4:54267363 [GRCh38]
Chr4:55133530 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2711C>T (p.Thr904Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000464018]|Hereditary cancer-predisposing syndrome [RCV001016377]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476053] Chr4:54288835 [GRCh38]
Chr4:55155002 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1854C>A (p.Ser618=) single nucleotide variant Gastrointestinal stromal tumor [RCV000467650]|Hereditary cancer-predisposing syndrome [RCV002411540] Chr4:54277455 [GRCh38]
Chr4:55143622 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2575G>A (p.Val859Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000467678]|not provided [RCV001770325] Chr4:54287442 [GRCh38]
Chr4:55153609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.202G>A (p.Asp68Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000467799]|Hereditary cancer-predisposing syndrome [RCV002418371] Chr4:54261247 [GRCh38]
Chr4:55127414 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2718C>T (p.Tyr906=) single nucleotide variant Gastrointestinal stromal tumor [RCV001400096] Chr4:54288842 [GRCh38]
Chr4:55155009 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1642A>T (p.Ile548Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000475283] Chr4:54274614 [GRCh38]
Chr4:55140781 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3141G>C (p.Glu1047Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000460328] Chr4:54295143 [GRCh38]
Chr4:55161310 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=) single nucleotide variant Gastrointestinal stromal tumor [RCV000464187]|Hereditary cancer-predisposing syndrome [RCV001016658]|Idiopathic hypereosinophilic syndrome [RCV001146166] Chr4:54289045 [GRCh38]
Chr4:55155212 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1662G>A (p.Arg554=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419254] Chr4:54274849 [GRCh38]
Chr4:55141016 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1605G>T (p.Leu535Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000467949]|Hereditary cancer-predisposing syndrome [RCV001012349] Chr4:54274577 [GRCh38]
Chr4:55140744 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2871A>G (p.Gln957=) single nucleotide variant Gastrointestinal stromal tumor [RCV000471662]|Hereditary cancer-predisposing syndrome [RCV001016739]|not provided [RCV003884547]|not specified [RCV001821247] Chr4:54289105 [GRCh38]
Chr4:55155272 [GRCh37]
Chr4:4q12		 benign|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.452G>A (p.Arg151His) single nucleotide variant Gastrointestinal stromal tumor [RCV000475355] Chr4:54263751 [GRCh38]
Chr4:55129918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2411G>A (p.Arg804Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000475433] Chr4:54285458 [GRCh38]
Chr4:55151625 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1428C>A (p.Ile476=) single nucleotide variant Gastrointestinal stromal tumor [RCV000456845]|Hereditary cancer-predisposing syndrome [RCV003168895] Chr4:54273600 [GRCh38]
Chr4:55139767 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000456998]|PDGFRA-related condition [RCV003932739] Chr4:54287422 [GRCh38]
Chr4:55153589 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.775A>G (p.Thr259Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000460666]|Hereditary cancer-predisposing syndrome [RCV002411449] Chr4:54267304 [GRCh38]
Chr4:55133471 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000464440]|Hereditary cancer-predisposing syndrome [RCV001010726]|Idiopathic hypereosinophilic syndrome [RCV003133275]|PDGFRA-related condition [RCV003942533]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV002291644]|not provided [RCV002473021] Chr4:54272436 [GRCh38]
Chr4:55138603 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000464523]|PDGFRA-related condition [RCV003418173]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476054]|not provided [RCV001770324] Chr4:54290385 [GRCh38]
Chr4:55156552 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000464549]|Hereditary cancer-predisposing syndrome [RCV001015662]|not provided [RCV003327401] Chr4:54285871 [GRCh38]
Chr4:55152038 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1749C>T (p.Asp583=) single nucleotide variant Gastrointestinal stromal tumor [RCV000471866] Chr4:54274936 [GRCh38]
Chr4:55141103 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3206A>G (p.Asp1069Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000471912]|Hereditary cancer-predisposing syndrome [RCV002323706] Chr4:54295208 [GRCh38]
Chr4:55161375 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.88A>G (p.Ile30Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000472004]|Hereditary cancer-predisposing syndrome [RCV001018477]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476040] Chr4:54261133 [GRCh38]
Chr4:55127300 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2647A>G (p.Ile883Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000475723] Chr4:54287514 [GRCh38]
Chr4:55153681 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000475784]|Hereditary cancer-predisposing syndrome [RCV002379441]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476056]|not provided [RCV002473012] Chr4:54272513 [GRCh38]
Chr4:55138680 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3098A>T (p.Asp1033Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000457138]|Hereditary cancer-predisposing syndrome [RCV002323705]|Ovarian cancer [RCV003153612] Chr4:54290530 [GRCh38]
Chr4:55156697 [GRCh37]
Chr4:4q12		 likely pathogenic|likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000457211]|PDGFRA-related condition [RCV003418172]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476052]|not provided [RCV003329280] Chr4:54277423 [GRCh38]
Chr4:55143590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.843G>A (p.Thr281=) single nucleotide variant Gastrointestinal stromal tumor [RCV000460854]|Hereditary cancer-predisposing syndrome [RCV003168896] Chr4:54267372 [GRCh38]
Chr4:55133539 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.28G>A (p.Val10Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000460861] Chr4:54258796 [GRCh38]
Chr4:55124963 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2166T>C (p.Ile722=) single nucleotide variant Gastrointestinal stromal tumor [RCV000460999]|Hereditary cancer-predisposing syndrome [RCV002429590] Chr4:54280325 [GRCh38]
Chr4:55146492 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.465C>T (p.Pro155=) single nucleotide variant Gastrointestinal stromal tumor [RCV000464645]|Hereditary cancer-predisposing syndrome [RCV001022860] Chr4:54263764 [GRCh38]
Chr4:55129931 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.401C>T (p.Thr134Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000468425]|Hereditary cancer-predisposing syndrome [RCV001021676]|not provided [RCV003228931] Chr4:54263700 [GRCh38]
Chr4:55129867 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.802T>A (p.Ser268Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000472082]|Hereditary cancer-predisposing syndrome [RCV001027087]|PDGFRA-related condition [RCV003970320] Chr4:54267331 [GRCh38]
Chr4:55133498 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2131A>G (p.Asn711Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000472227] Chr4:54278490 [GRCh38]
Chr4:55144657 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.263G>C (p.Ser88Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000475902] Chr4:54261308 [GRCh38]
Chr4:55127475 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.25C>T (p.Leu9=) single nucleotide variant Gastrointestinal stromal tumor [RCV000475991]|Hereditary cancer-predisposing syndrome [RCV002436488] Chr4:54258793 [GRCh38]
Chr4:55124960 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1424A>C (p.Glu475Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000475997]|Hereditary cancer-predisposing syndrome [RCV002393110]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476051] Chr4:54273596 [GRCh38]
Chr4:55139763 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000457492]|Hereditary cancer-predisposing syndrome [RCV001013403]|not provided [RCV003441870] Chr4:54277449 [GRCh38]
Chr4:55143616 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2260T>C (p.Tyr754His) single nucleotide variant Gastrointestinal stromal tumor [RCV000468730]|Hereditary cancer-predisposing syndrome [RCV002446803] Chr4:54280419 [GRCh38]
Chr4:55146586 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1459C>T (p.Arg487Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000476217]|Hereditary cancer-predisposing syndrome [RCV001011682] Chr4:54273631 [GRCh38]
Chr4:55139798 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1127G>A (p.Arg376Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000476232]|Hereditary cancer-predisposing syndrome [RCV001017410]|PDGFRA-related condition [RCV003972780] Chr4:54270638 [GRCh38]
Chr4:55136805 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+5C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000476272] Chr4:54290559 [GRCh38]
Chr4:55156726 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2616C>T (p.Tyr872=) single nucleotide variant Gastrointestinal stromal tumor [RCV001470563]|Hereditary cancer-predisposing syndrome [RCV002436490] Chr4:54287483 [GRCh38]
Chr4:55153650 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3210C>T (p.Ile1070=) single nucleotide variant Gastrointestinal stromal tumor [RCV000457682]|Hereditary cancer-predisposing syndrome [RCV002323784] Chr4:54295212 [GRCh38]
Chr4:55161379 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.752G>A (p.Gly251Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000457715]|Hereditary cancer-predisposing syndrome [RCV002257708] Chr4:54265042 [GRCh38]
Chr4:55131209 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1018C>A (p.Arg340=) single nucleotide variant Gastrointestinal stromal tumor [RCV000461299] Chr4:54267638 [GRCh38]
Chr4:55133805 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1470C>T (p.Phe490=) single nucleotide variant Gastrointestinal stromal tumor [RCV000461469]|Hereditary cancer-predisposing syndrome [RCV001011758] Chr4:54273642 [GRCh38]
Chr4:55139809 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3226A>G (p.Ile1076Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000468793]|Hereditary cancer-predisposing syndrome [RCV002323708]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476055] Chr4:54295228 [GRCh38]
Chr4:55161395 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1287G>A (p.Gly429=) single nucleotide variant Gastrointestinal stromal tumor [RCV000468887] Chr4:54272443 [GRCh38]
Chr4:55138610 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.603C>T (p.Ile201=) single nucleotide variant Gastrointestinal stromal tumor [RCV000472601]|Hereditary cancer-predisposing syndrome [RCV002356734] Chr4:54263902 [GRCh38]
Chr4:55130069 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2153G>A (p.Arg718Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000461680]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476046] Chr4:54278512 [GRCh38]
Chr4:55144679 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1659G>A (p.Pro553=) single nucleotide variant Gastrointestinal stromal tumor [RCV000461739]|Hereditary cancer-predisposing syndrome [RCV001012588] Chr4:54274846 [GRCh38]
Chr4:55141013 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.760-7G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000465403] Chr4:54267282 [GRCh38]
Chr4:55133449 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000469058]|Hereditary cancer-predisposing syndrome [RCV001015553] Chr4:54285838 [GRCh38]
Chr4:55152005 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1062G>A (p.Leu354=) single nucleotide variant Gastrointestinal stromal tumor [RCV001482277] Chr4:54267682 [GRCh38]
Chr4:55133849 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.18G>C (p.Pro6=) single nucleotide variant Gastrointestinal stromal tumor [RCV000476786]|Hereditary cancer-predisposing syndrome [RCV002411539] Chr4:54258786 [GRCh38]
Chr4:55124953 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.610A>G (p.Asn204Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000554525] Chr4:54263909 [GRCh38]
Chr4:55130076 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55141008)_(55164412_?)dup duplication Gastrointestinal stromal tumor [RCV000458010] Chr4:54274841..54298245 [GRCh38]
Chr4:55141008..55164412 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1687G>C (p.Glu563Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000458061] Chr4:54274874 [GRCh38]
Chr4:55141041 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1492G>A (p.Ala498Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000461815]|Hereditary cancer-predisposing syndrome [RCV002393108]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476048] Chr4:54273664 [GRCh38]
Chr4:55139831 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.904A>G (p.Met302Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000465542] Chr4:54267433 [GRCh38]
Chr4:55133600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2957A>G (p.Asn986Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000465618]|Hereditary cancer-predisposing syndrome [RCV001017663]|not provided [RCV003329281] Chr4:54290389 [GRCh38]
Chr4:55156556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932-8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000465639]|not provided [RCV003237877] Chr4:54267544 [GRCh38]
Chr4:55133711 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1624C>T (p.Leu542Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000469268] Chr4:54274596 [GRCh38]
Chr4:55140763 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3192C>T (p.Asp1064=) single nucleotide variant Gastrointestinal stromal tumor [RCV000476897]|Hereditary cancer-predisposing syndrome [RCV002323783] Chr4:54295194 [GRCh38]
Chr4:55161361 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1405G>A (p.Val469Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000465785]|Hereditary cancer-predisposing syndrome [RCV002393107] Chr4:54273577 [GRCh38]
Chr4:55139744 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000465878]|Hereditary cancer-predisposing syndrome [RCV001017678]|Idiopathic hypereosinophilic syndrome [RCV002480386]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476042] Chr4:54267367 [GRCh38]
Chr4:55133534 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2768G>C (p.Ser923Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000458566]|not provided [RCV002298597] Chr4:54288892 [GRCh38]
Chr4:55155059 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2613C>T (p.Leu871=) single nucleotide variant Gastrointestinal stromal tumor [RCV000462230]|Hereditary cancer-predisposing syndrome [RCV002429589] Chr4:54287480 [GRCh38]
Chr4:55153647 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2679C>T (p.Gly893=) single nucleotide variant Gastrointestinal stromal tumor [RCV000462340]|Hereditary cancer-predisposing syndrome [RCV002429498] Chr4:54288803 [GRCh38]
Chr4:55154970 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1299G>T (p.Val433=) single nucleotide variant Gastrointestinal stromal tumor [RCV000462447]|Hereditary cancer-predisposing syndrome [RCV002383877] Chr4:54272455 [GRCh38]
Chr4:55138622 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3102G>A (p.Leu1034=) single nucleotide variant Gastrointestinal stromal tumor [RCV000466093] Chr4:54290534 [GRCh38]
Chr4:55156701 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=) single nucleotide variant Gastrointestinal stromal tumor [RCV000469883]|Hereditary cancer-predisposing syndrome [RCV001014890]|Idiopathic hypereosinophilic syndrome [RCV001150376] Chr4:54280391 [GRCh38]
Chr4:55146558 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1891+10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000458787]|PDGFRA-related condition [RCV003915299]|not specified [RCV003151069] Chr4:54277502 [GRCh38]
Chr4:55143669 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.249G>A (p.Thr83=) single nucleotide variant Gastrointestinal stromal tumor [RCV000458821]|Hereditary cancer-predisposing syndrome [RCV001015758] Chr4:54261294 [GRCh38]
Chr4:55127461 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1347A>G (p.Ile449Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000462581]|Hereditary cancer-predisposing syndrome [RCV002379439] Chr4:54272503 [GRCh38]
Chr4:55138670 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-8G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000466351]|Idiopathic hypereosinophilic syndrome [RCV001146167] Chr4:54290305 [GRCh38]
Chr4:55156472 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.466G>A (p.Glu156Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000470048]|Hereditary cancer-predisposing syndrome [RCV001022876]|PDGFRA-related condition [RCV003970281]|not provided [RCV003156242] Chr4:54263765 [GRCh38]
Chr4:55129932 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.784G>C (p.Glu262Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000473827]|Hereditary cancer-predisposing syndrome [RCV001026873]|not provided [RCV003226930] Chr4:54267313 [GRCh38]
Chr4:55133480 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1522G>A (p.Gly508Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000473836]|Hereditary cancer-predisposing syndrome [RCV002393106]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476044] Chr4:54273694 [GRCh38]
Chr4:55139861 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1060C>T (p.Leu354=) single nucleotide variant Gastrointestinal stromal tumor [RCV001445678] Chr4:54267680 [GRCh38]
Chr4:55133847 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000473848] Chr4:54288904 [GRCh38]
Chr4:55155071 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1497G>A (p.Val499=) single nucleotide variant Gastrointestinal stromal tumor [RCV000554204]|Hereditary cancer-predisposing syndrome [RCV002395326] Chr4:54273669 [GRCh38]
Chr4:55139836 [GRCh37]
Chr4:4q12		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_006206.6(PDGFRA):c.1896G>T (p.Thr632=) single nucleotide variant Gastrointestinal stromal tumor [RCV000531226]|Hereditary cancer-predisposing syndrome [RCV002413473] Chr4:54277900 [GRCh38]
Chr4:55144067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2682C>T (p.Thr894=) single nucleotide variant Gastrointestinal stromal tumor [RCV000555725]|Hereditary cancer-predisposing syndrome [RCV003302793] Chr4:54288806 [GRCh38]
Chr4:55154973 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1651C>G (p.Gln551Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000537928] Chr4:54274623 [GRCh38]
Chr4:55140790 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.655G>C (p.Glu219Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000560573]|Hereditary cancer-predisposing syndrome [RCV003372743] Chr4:54264945 [GRCh38]
Chr4:55131112 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365A>C (p.Lys455Asn) single nucleotide variant Inborn genetic diseases [RCV003273623] Chr4:54273537 [GRCh38]
Chr4:55139704 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2812G>C (p.Glu938Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297523] Chr4:54289046 [GRCh38]
Chr4:55155213 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2034C>T (p.Phe678=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297524] Chr4:54278393 [GRCh38]
Chr4:55144560 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1710T>C (p.His570=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297530] Chr4:54274897 [GRCh38]
Chr4:55141064 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.981C>G (p.Val327=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297532] Chr4:54267601 [GRCh38]
Chr4:55133768 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2564C>G (p.Thr855Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297535] Chr4:54287431 [GRCh38]
Chr4:55153598 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633716]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471979]|not provided [RCV001766349] Chr4:54261320 [GRCh38]
Chr4:55127487 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1615A>G (p.Ile539Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633722]|Hereditary cancer-predisposing syndrome [RCV001012427] Chr4:54274587 [GRCh38]
Chr4:55140754 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1668A>T (p.Glu556Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000633723]|Hereditary cancer-predisposing syndrome [RCV002404754]|not provided [RCV003322800] Chr4:54274855 [GRCh38]
Chr4:55141022 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.835G>A (p.Glu279Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633736] Chr4:54267364 [GRCh38]
Chr4:55133531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3128A>G (p.Gln1043Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633738]|Hereditary cancer-predisposing syndrome [RCV002325218]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471981] Chr4:54295130 [GRCh38]
Chr4:55161297 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1414A>G (p.Ile472Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633742]|Hereditary cancer-predisposing syndrome [RCV002388022] Chr4:54273586 [GRCh38]
Chr4:55139753 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2741G>A (p.Arg914Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000633744]|Hereditary cancer-predisposing syndrome [RCV001016463] Chr4:54288865 [GRCh38]
Chr4:55155032 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2148C>A (p.Ser716Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633747]|Hereditary cancer-predisposing syndrome [RCV002431874] Chr4:54278507 [GRCh38]
Chr4:55144674 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1576dup (p.Thr526fs) duplication Gastrointestinal stromal tumor [RCV000633748] Chr4:54274547..54274548 [GRCh38]
Chr4:55140714..55140715 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2540C>T (p.Ser847Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633756]|Hereditary cancer-predisposing syndrome [RCV002458011] Chr4:54285941 [GRCh38]
Chr4:55152108 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.115G>A (p.Val39Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633757]|Hereditary cancer-predisposing syndrome [RCV002358776] Chr4:54261160 [GRCh38]
Chr4:55127327 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.455C>T (p.Thr152Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000633770]|Hereditary cancer-predisposing syndrome [RCV001022695] Chr4:54263754 [GRCh38]
Chr4:55129921 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3070G>A (p.Asp1024Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633772] Chr4:54290502 [GRCh38]
Chr4:55156669 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1580T>C (p.Val527Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000633780]|Hereditary cancer-predisposing syndrome [RCV002388024]|not provided [RCV003437345] Chr4:54274552 [GRCh38]
Chr4:55140719 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.163G>T (p.Val55Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633782]|Hereditary cancer-predisposing syndrome [RCV002404755] Chr4:54261208 [GRCh38]
Chr4:55127375 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3246C>A (p.Asp1082Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633783] Chr4:54295248 [GRCh38]
Chr4:55161415 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-9T>A single nucleotide variant Gastrointestinal stromal tumor [RCV000633784] Chr4:54273528 [GRCh38]
Chr4:55139695 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3223G>A (p.Asp1075Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448952]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471984] Chr4:54295225 [GRCh38]
Chr4:55161392 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2674+5G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000633786] Chr4:54287546 [GRCh38]
Chr4:55153713 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2932G>T (p.Ala978Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633788]|Hereditary cancer-predisposing syndrome [RCV002438667] Chr4:54290364 [GRCh38]
Chr4:55156531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562T>A (p.Ser854Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633794] Chr4:54285963 [GRCh38]
Chr4:55152130 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3086C>T (p.Pro1029Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633795] Chr4:54290518 [GRCh38]
Chr4:55156685 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3058A>G (p.Ile1020Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633815]|Hereditary cancer-predisposing syndrome [RCV002448954]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471986] Chr4:54290490 [GRCh38]
Chr4:55156657 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1429C>A (p.His477Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633828] Chr4:54273601 [GRCh38]
Chr4:55139768 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.423G>T (p.Glu141Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000633833]|Hereditary cancer-predisposing syndrome [RCV002331124] Chr4:54263722 [GRCh38]
Chr4:55129889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.371C>T (p.Pro124Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633834]|PDGFRA-related condition [RCV003420098] Chr4:54263670 [GRCh38]
Chr4:55129837 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.205G>A (p.Val69Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633844] Chr4:54261250 [GRCh38]
Chr4:55127417 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1437A>G (p.Arg479=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633858] Chr4:54273609 [GRCh38]
Chr4:55139776 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-5C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000633862] Chr4:54277383 [GRCh38]
Chr4:55143550 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+9A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000633864] Chr4:54285495 [GRCh38]
Chr4:55151662 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1599G>T (p.Val533=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633876]|Hereditary cancer-predisposing syndrome [RCV002404757] Chr4:54274571 [GRCh38]
Chr4:55140738 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2856T>C (p.Asn952=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633879] Chr4:54289090 [GRCh38]
Chr4:55155257 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2328A>G (p.Ser776=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633881]|Hereditary cancer-predisposing syndrome [RCV002448956] Chr4:54285375 [GRCh38]
Chr4:55151542 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001411244] Chr4:54274982 [GRCh38]
Chr4:55141149 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-7T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000633884] Chr4:54274834 [GRCh38]
Chr4:55141001 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2463T>C (p.Ala821=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633901] Chr4:54285864 [GRCh38]
Chr4:55152031 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.798C>G (p.Val266=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633905] Chr4:54267327 [GRCh38]
Chr4:55133494 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.760-6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000633906] Chr4:54267283 [GRCh38]
Chr4:55133450 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2880+10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000633908] Chr4:54289124 [GRCh38]
Chr4:55155291 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.54G>A (p.Leu18=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633910] Chr4:54261099 [GRCh38]
Chr4:55127266 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000633911] Chr4:54261086 [GRCh38]
Chr4:55127253 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3258C>T (p.Asp1086=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633922]|Hereditary cancer-predisposing syndrome [RCV003343965] Chr4:54295260 [GRCh38]
Chr4:55161427 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1008T>C (p.Val336=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633923]|Hereditary cancer-predisposing syndrome [RCV002431877] Chr4:54267628 [GRCh38]
Chr4:55133795 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.669C>A (p.Thr223=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633924] Chr4:54264959 [GRCh38]
Chr4:55131126 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.489C>T (p.Asn163=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633929]|Hereditary cancer-predisposing syndrome [RCV002331128] Chr4:54263788 [GRCh38]
Chr4:55129955 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1020G>T (p.Arg340=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633933] Chr4:54267640 [GRCh38]
Chr4:55133807 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000633940] Chr4:54285970 [GRCh38]
Chr4:55152137 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1533C>G (p.Asn511Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000538699]|Hereditary cancer-predisposing syndrome [RCV002404393] Chr4:54273705 [GRCh38]
Chr4:55139872 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2820A>G (p.Arg940=) single nucleotide variant Gastrointestinal stromal tumor [RCV000557167]|Hereditary cancer-predisposing syndrome [RCV003159766] Chr4:54289054 [GRCh38]
Chr4:55155221 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000557487]|Hereditary cancer-predisposing syndrome [RCV001012542]|PDGFRA-related condition [RCV003403265]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476230] Chr4:54274614 [GRCh38]
Chr4:55140781 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1659G>C (p.Pro553=) single nucleotide variant Gastrointestinal stromal tumor [RCV000557699] Chr4:54274846 [GRCh38]
Chr4:55141013 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+10A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000535250] Chr4:54274983 [GRCh38]
Chr4:55141150 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.367+4dup duplication Gastrointestinal stromal tumor [RCV000557810] Chr4:54261415..54261416 [GRCh38]
Chr4:55127582..55127583 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1223A>T (p.Glu408Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000558048]|Hereditary cancer-predisposing syndrome [RCV002367792] Chr4:54270734 [GRCh38]
Chr4:55136901 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.898A>G (p.Lys300Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000539737]|not provided [RCV003128626] Chr4:54267427 [GRCh38]
Chr4:55133594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.969G>C (p.Gln323His) single nucleotide variant Gastrointestinal stromal tumor [RCV000558273] Chr4:54267589 [GRCh38]
Chr4:55133756 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1273C>T (p.His425Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000558277] Chr4:54272429 [GRCh38]
Chr4:55138596 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1950C>T (p.His650=) single nucleotide variant Gastrointestinal stromal tumor [RCV001462590]|Hereditary cancer-predisposing syndrome [RCV002420383] Chr4:54277954 [GRCh38]
Chr4:55144121 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2947G>T (p.Asp983Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000558713]|Hereditary cancer-predisposing syndrome [RCV003362830] Chr4:54290379 [GRCh38]
Chr4:55156546 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2324-4G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000558958] Chr4:54285367 [GRCh38]
Chr4:55151534 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000540274]|Hereditary cancer-predisposing syndrome [RCV001023236] Chr4:54258822 [GRCh38]
Chr4:55124989 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50G>T (p.Gly17Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000540572]|Hereditary cancer-predisposing syndrome [RCV003380601]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476233] Chr4:54261095 [GRCh38]
Chr4:55127262 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1380T>C (p.Thr460=) single nucleotide variant Gastrointestinal stromal tumor [RCV000559352]|Hereditary cancer-predisposing syndrome [RCV002384073] Chr4:54273552 [GRCh38]
Chr4:55139719 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1808C>T (p.Ala603Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000540823] Chr4:54277409 [GRCh38]
Chr4:55143576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1833A>C (p.Thr611=) single nucleotide variant Gastrointestinal stromal tumor [RCV000541032]|Hereditary cancer-predisposing syndrome [RCV002413472] Chr4:54277434 [GRCh38]
Chr4:55143601 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1438G>A (p.Asp480Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000541402]|Hereditary cancer-predisposing syndrome [RCV002395324] Chr4:54273610 [GRCh38]
Chr4:55139777 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1491C>A (p.Ile497=) single nucleotide variant Gastrointestinal stromal tumor [RCV000541601] Chr4:54273663 [GRCh38]
Chr4:55139830 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1129A>G (p.Ser377Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000556225]|Hereditary cancer-predisposing syndrome [RCV002323932] Chr4:54270640 [GRCh38]
Chr4:55136807 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124930)_(55161445_?)dup duplication Gastrointestinal stromal tumor [RCV000556374] Chr4:54258763..54295278 [GRCh38]
Chr4:55124930..55161445 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.342C>G (p.Gly114=) single nucleotide variant Gastrointestinal stromal tumor [RCV000556607] Chr4:54261387 [GRCh38]
Chr4:55127554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2546A>G (p.Tyr849Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283480] Chr4:54285947 [GRCh38]
Chr4:55152114 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1318A>G (p.Thr440Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283481] Chr4:54272474 [GRCh38]
Chr4:55138641 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2250G>A (p.Glu750=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283482] Chr4:54280409 [GRCh38]
Chr4:55146576 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1901G>T (p.Arg634Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283485] Chr4:54277905 [GRCh38]
Chr4:55144072 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-4A>T single nucleotide variant Gastrointestinal stromal tumor [RCV000556874]|Hereditary cancer-predisposing syndrome [RCV002257791] Chr4:54278358 [GRCh38]
Chr4:55144525 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1367G>A (p.Cys456Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000633724] Chr4:54273539 [GRCh38]
Chr4:55139706 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1582G>A (p.Ala528Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000633725]|Hereditary cancer-predisposing syndrome [RCV001012262] Chr4:54274554 [GRCh38]
Chr4:55140721 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3009G>T (p.Trp1003Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633726] Chr4:54290441 [GRCh38]
Chr4:55156608 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1565G>A (p.Arg522His) single nucleotide variant Gastrointestinal stromal tumor [RCV000633727]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471980] Chr4:54274537 [GRCh38]
Chr4:55140704 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2176G>C (p.Glu726Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000633728] Chr4:54280335 [GRCh38]
Chr4:55146502 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1460G>A (p.Arg487His) single nucleotide variant Gastrointestinal stromal tumor [RCV000633729]|Hereditary cancer-predisposing syndrome [RCV001011691]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV001775140] Chr4:54273632 [GRCh38]
Chr4:55139799 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1171C>T (p.His391Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000633745] Chr4:54270682 [GRCh38]
Chr4:55136849 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2008A>G (p.Ile670Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633749] Chr4:54278367 [GRCh38]
Chr4:55144534 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2689C>T (p.Pro897Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633751]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471982] Chr4:54288813 [GRCh38]
Chr4:55154980 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2146A>C (p.Ser716Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633752] Chr4:54278505 [GRCh38]
Chr4:55144672 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.20C>A (p.Ala7Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633759]|Hereditary cancer-predisposing syndrome [RCV003162817] Chr4:54258788 [GRCh38]
Chr4:55124955 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1864A>T (p.Met622Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633761]|Hereditary cancer-predisposing syndrome [RCV002413818] Chr4:54277465 [GRCh38]
Chr4:55143632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3210C>G (p.Ile1070Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633766] Chr4:54295212 [GRCh38]
Chr4:55161379 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2965A>C (p.Ile989Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633774]|Hereditary cancer-predisposing syndrome [RCV002438666] Chr4:54290397 [GRCh38]
Chr4:55156564 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1310C>T (p.Ala437Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633775]|Hereditary cancer-predisposing syndrome [RCV002385996] Chr4:54272466 [GRCh38]
Chr4:55138633 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.211A>T (p.Ile71Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000633776] Chr4:54261256 [GRCh38]
Chr4:55127423 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.122T>C (p.Leu41Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000633798] Chr4:54261167 [GRCh38]
Chr4:55127334 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364A>G (p.Lys455Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633801] Chr4:54272520 [GRCh38]
Chr4:55138687 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.859G>A (p.Asp287Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633806]|Hereditary cancer-predisposing syndrome [RCV002448953] Chr4:54267388 [GRCh38]
Chr4:55133555 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2337A>C (p.Lys779Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633812]|Hereditary cancer-predisposing syndrome [RCV003162821] Chr4:54285384 [GRCh38]
Chr4:55151551 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.58C>G (p.Leu20Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000633814] Chr4:54261103 [GRCh38]
Chr4:55127270 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2681C>A (p.Thr894Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633818]|Hereditary cancer-predisposing syndrome [RCV002431875] Chr4:54288805 [GRCh38]
Chr4:55154972 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.865G>A (p.Glu289Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633819] Chr4:54267394 [GRCh38]
Chr4:55133561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1336G>A (p.Glu446Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633820]|Hereditary cancer-predisposing syndrome [RCV002385997] Chr4:54272492 [GRCh38]
Chr4:55138659 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1214A>G (p.Tyr405Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633822]|Hereditary cancer-predisposing syndrome [RCV002358777] Chr4:54270725 [GRCh38]
Chr4:55136892 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.723G>A (p.Glu241=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633826] Chr4:54265013 [GRCh38]
Chr4:55131180 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His) single nucleotide variant Gastrointestinal stromal tumor [RCV000633837]|Gastrointestinal stromal tumor [RCV000764536]|Hereditary cancer-predisposing syndrome [RCV001018339]|Idiopathic hypereosinophilic syndrome [RCV003133420]|not provided [RCV003228967] Chr4:54267407 [GRCh38]
Chr4:55133574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.901G>A (p.Glu301Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633838] Chr4:54267430 [GRCh38]
Chr4:55133597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2326T>G (p.Ser776Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000633839] Chr4:54285373 [GRCh38]
Chr4:55151540 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.527A>G (p.Gln176Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633840]|Hereditary cancer-predisposing syndrome [RCV001023851]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471987] Chr4:54263826 [GRCh38]
Chr4:55129993 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1275T>G (p.His425Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000633841] Chr4:54272431 [GRCh38]
Chr4:55138598 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2609A>G (p.Asn870Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633842]|not provided [RCV003228968] Chr4:54287476 [GRCh38]
Chr4:55153643 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.227A>G (p.Asn76Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633843] Chr4:54261272 [GRCh38]
Chr4:55127439 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1941A>T (p.Ile647=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633872]|Hereditary cancer-predisposing syndrome [RCV002413823] Chr4:54277945 [GRCh38]
Chr4:55144112 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3018T>A (p.Gly1006=) single nucleotide variant Gastrointestinal stromal tumor [RCV001451160]|Hereditary cancer-predisposing syndrome [RCV003162823] Chr4:54290450 [GRCh38]
Chr4:55156617 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.615T>A (p.Val205=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633885]|Hereditary cancer-predisposing syndrome [RCV002358778] Chr4:54263914 [GRCh38]
Chr4:55130081 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1572A>G (p.Glu524=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633886] Chr4:54274544 [GRCh38]
Chr4:55140711 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.729T>G (p.Val243=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633894] Chr4:54265019 [GRCh38]
Chr4:55131186 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.807C>T (p.Ile269=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633895]|Hereditary cancer-predisposing syndrome [RCV002420699] Chr4:54267336 [GRCh38]
Chr4:55133503 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2973C>T (p.Val991=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633902]|Hereditary cancer-predisposing syndrome [RCV002438671]|PDGFRA-related condition [RCV003945593] Chr4:54290405 [GRCh38]
Chr4:55156572 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000633907]|Hereditary cancer-predisposing syndrome [RCV001020874]|not specified [RCV003151115] Chr4:54263663 [GRCh38]
Chr4:55129830 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1603T>C (p.Leu535=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633917]|Hereditary cancer-predisposing syndrome [RCV002404759] Chr4:54274575 [GRCh38]
Chr4:55140742 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1149T>C (p.Arg383=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633919]|Hereditary cancer-predisposing syndrome [RCV002458015] Chr4:54270660 [GRCh38]
Chr4:55136827 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.760-4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000633920]|Hereditary cancer-predisposing syndrome [RCV001026615] Chr4:54267285 [GRCh38]
Chr4:55133452 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1665T>C (p.Tyr555=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633921] Chr4:54274852 [GRCh38]
Chr4:55141019 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.783G>A (p.Leu261=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633926]|Hereditary cancer-predisposing syndrome [RCV003162825] Chr4:54267312 [GRCh38]
Chr4:55133479 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.690G>A (p.Thr230=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633928]|Hereditary cancer-predisposing syndrome [RCV002377369] Chr4:54264980 [GRCh38]
Chr4:55131147 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2784C>G (p.Ile928Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000532019]|Hereditary cancer-predisposing syndrome [RCV002438323] Chr4:54289018 [GRCh38]
Chr4:55155185 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2893del (p.Ile965fs) deletion Gastrointestinal stromal tumor [RCV000533208] Chr4:54290320 [GRCh38]
Chr4:55156487 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1578G>A (p.Thr526=) single nucleotide variant Gastrointestinal stromal tumor [RCV000556044] Chr4:54274550 [GRCh38]
Chr4:55140717 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2295A>C (p.Pro765=) single nucleotide variant Gastrointestinal stromal tumor [RCV000540456] Chr4:54280454 [GRCh38]
Chr4:55146621 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2354A>G (p.Asp785Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000559472] Chr4:54285401 [GRCh38]
Chr4:55151568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.342C>T (p.Gly114=) single nucleotide variant Gastrointestinal stromal tumor [RCV000537185]|Hereditary cancer-predisposing syndrome [RCV001020285] Chr4:54261387 [GRCh38]
Chr4:55127554 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.921T>G (p.Ile307Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000540947] Chr4:54267450 [GRCh38]
Chr4:55133617 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1926G>A (p.Met642Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000560051]|Hereditary cancer-predisposing syndrome [RCV002258945]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV001262590] Chr4:54277930 [GRCh38]
Chr4:55144097 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2049C>G (p.Val683=) single nucleotide variant Gastrointestinal stromal tumor [RCV000537579]|Hereditary cancer-predisposing syndrome [RCV002420384]|not provided [RCV003437244] Chr4:54278408 [GRCh38]
Chr4:55144575 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3168T>C (p.Ser1056=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297526] Chr4:54295170 [GRCh38]
Chr4:55161337 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV000533109] Chr4:54267469 [GRCh38]
Chr4:55133636 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.628+7G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000560229] Chr4:54263934 [GRCh38]
Chr4:55130101 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2150C>T (p.Thr717Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000537781] Chr4:54278509 [GRCh38]
Chr4:55144676 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3229G>A (p.Gly1077Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000556241] Chr4:54295231 [GRCh38]
Chr4:55161398 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2164A>T (p.Ile722Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000556276] Chr4:54280323 [GRCh38]
Chr4:55146490 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2909T>C (p.Leu970Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000534679] Chr4:54290341 [GRCh38]
Chr4:55156508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2366G>A (p.Gly789Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000535371]|not provided [RCV002298646] Chr4:54285413 [GRCh38]
Chr4:55151580 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629C>A (p.Ala210Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000535429]|PDGFRA-related condition [RCV003403266] Chr4:54264919 [GRCh38]
Chr4:55131086 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2904C>T (p.Asp968=) single nucleotide variant Gastrointestinal stromal tumor [RCV000558368]|Hereditary cancer-predisposing syndrome [RCV003362829] Chr4:54290336 [GRCh38]
Chr4:55156503 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1137A>G (p.Leu379=) single nucleotide variant Gastrointestinal stromal tumor [RCV000539577]|Hereditary cancer-predisposing syndrome [RCV002456076]|PDGFRA-related condition [RCV003942754] Chr4:54270648 [GRCh38]
Chr4:55136815 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2290C>T (p.Arg764Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633714]|Hereditary cancer-predisposing syndrome [RCV001015088] Chr4:54280449 [GRCh38]
Chr4:55146616 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.257A>C (p.Glu86Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000633717]|Hereditary cancer-predisposing syndrome [RCV002458010] Chr4:54261302 [GRCh38]
Chr4:55127469 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1421C>T (p.Thr474Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633720]|Hereditary cancer-predisposing syndrome [RCV002388020] Chr4:54273593 [GRCh38]
Chr4:55139760 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.982A>G (p.Asn328Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000633732] Chr4:54267602 [GRCh38]
Chr4:55133769 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1352A>G (p.Lys451Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633734] Chr4:54272508 [GRCh38]
Chr4:55138675 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1466C>G (p.Thr489Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633753]|Hereditary cancer-predisposing syndrome [RCV002388023] Chr4:54273638 [GRCh38]
Chr4:55139805 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2437A>C (p.Asn813His) single nucleotide variant Gastrointestinal stromal tumor [RCV000633754] Chr4:54285484 [GRCh38]
Chr4:55151651 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.763G>A (p.Gly255Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633763]|Hereditary cancer-predisposing syndrome [RCV001026657] Chr4:54267292 [GRCh38]
Chr4:55133459 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.448T>C (p.Cys150Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633765] Chr4:54263747 [GRCh38]
Chr4:55129914 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1183G>T (p.Val395Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000633769]|Hereditary cancer-predisposing syndrome [RCV001010082] Chr4:54270694 [GRCh38]
Chr4:55136861 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.784G>A (p.Glu262Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633778] Chr4:54267313 [GRCh38]
Chr4:55133480 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.230A>G (p.Asn77Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633779]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471983] Chr4:54261275 [GRCh38]
Chr4:55127442 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.418G>A (p.Val140Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633789]|Hereditary cancer-predisposing syndrome [RCV001022011]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003471985] Chr4:54263717 [GRCh38]
Chr4:55129884 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3123-6C>G single nucleotide variant Gastrointestinal stromal tumor [RCV000633791] Chr4:54295119 [GRCh38]
Chr4:55161286 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.11C>G (p.Ser4Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000633792]|Hereditary cancer-predisposing syndrome [RCV002343230] Chr4:54258779 [GRCh38]
Chr4:55124946 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.235G>A (p.Gly79Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633800] Chr4:54261280 [GRCh38]
Chr4:55127447 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.492T>G (p.Ser164Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000633802]|Hereditary cancer-predisposing syndrome [RCV002334074] Chr4:54263791 [GRCh38]
Chr4:55129958 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.144A>C (p.Arg48Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633805] Chr4:54261189 [GRCh38]
Chr4:55127356 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.111G>T (p.Lys37Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000633808]|Hereditary cancer-predisposing syndrome [RCV002438668] Chr4:54261156 [GRCh38]
Chr4:55127323 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.282C>A (p.His94Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000633823] Chr4:54261327 [GRCh38]
Chr4:55127494 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1587T>A (p.Ala529=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633825]|Hereditary cancer-predisposing syndrome [RCV003278959] Chr4:54274559 [GRCh38]
Chr4:55140726 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2255C>T (p.Ser752Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000633829] Chr4:54280414 [GRCh38]
Chr4:55146581 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3154A>T (p.Thr1052Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000633830] Chr4:54295156 [GRCh38]
Chr4:55161323 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1631_1632delinsGT (p.Val544Gly) indel Gastrointestinal stromal tumor [RCV000633835] Chr4:54274603..54274604 [GRCh38]
Chr4:55140770..55140771 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2944G>A (p.Val982Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000633850] Chr4:54290376 [GRCh38]
Chr4:55156543 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2142T>C (p.Asp714=) single nucleotide variant Gastrointestinal stromal tumor [RCV001394024] Chr4:54278501 [GRCh38]
Chr4:55144668 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1836C>T (p.Ala612=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633890] Chr4:54277437 [GRCh38]
Chr4:55143604 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3177C>T (p.Phe1059=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633898] Chr4:54295179 [GRCh38]
Chr4:55161346 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633904]|Hereditary cancer-predisposing syndrome [RCV003162824]|Idiopathic hypereosinophilic syndrome [RCV001150375] Chr4:54278399 [GRCh38]
Chr4:55144566 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1218T>G (p.Thr406=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633914]|Hereditary cancer-predisposing syndrome [RCV002360530] Chr4:54270729 [GRCh38]
Chr4:55136896 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2010T>A (p.Ile670=) single nucleotide variant Gastrointestinal stromal tumor [RCV001476867]|Hereditary cancer-predisposing syndrome [RCV002420700] Chr4:54278369 [GRCh38]
Chr4:55144536 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.561T>C (p.Tyr187=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633937]|Hereditary cancer-predisposing syndrome [RCV002343232] Chr4:54263860 [GRCh38]
Chr4:55130027 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1839T>C (p.Tyr613=) single nucleotide variant Gastrointestinal stromal tumor [RCV000633939]|Hereditary cancer-predisposing syndrome [RCV003162827] Chr4:54277440 [GRCh38]
Chr4:55143607 [GRCh37]
Chr4:4q12		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006206.6(PDGFRA):c.2439+5G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000701157] Chr4:54285491 [GRCh38]
Chr4:55151658 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.551T>C (p.Val184Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000698331]|Hereditary cancer-predisposing syndrome [RCV002343500] Chr4:54263850 [GRCh38]
Chr4:55130017 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.488A>G (p.Asn163Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000698378] Chr4:54263787 [GRCh38]
Chr4:55129954 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.85T>C (p.Ser29Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001209372]|Hereditary cancer-predisposing syndrome [RCV002447072] Chr4:54261130 [GRCh38]
Chr4:55127297 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3215T>A (p.Met1072Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000699914] Chr4:54295217 [GRCh38]
Chr4:55161384 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3206A>T (p.Asp1069Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000686845] Chr4:54295208 [GRCh38]
Chr4:55161375 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000701707]|Hereditary cancer-predisposing syndrome [RCV002422573]|Idiopathic hypereosinophilic syndrome [RCV002507224] Chr4:54277974 [GRCh38]
Chr4:55144141 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1499G>A (p.Arg500Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000702515]|Hereditary cancer-predisposing syndrome [RCV002388317] Chr4:54273671 [GRCh38]
Chr4:55139838 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.257A>G (p.Glu86Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000702552] Chr4:54261302 [GRCh38]
Chr4:55127469 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2998C>G (p.Leu1000Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000688500]|Hereditary cancer-predisposing syndrome [RCV002440435]|PDGFRA-related condition [RCV003892532] Chr4:54290430 [GRCh38]
Chr4:55156597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.405T>A (p.Asp135Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000688541]|Hereditary cancer-predisposing syndrome [RCV001021775] Chr4:54263704 [GRCh38]
Chr4:55129871 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1790G>A (p.Arg597Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000700049]|Hereditary cancer-predisposing syndrome [RCV001013184] Chr4:54277391 [GRCh38]
Chr4:55143558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2404G>T (p.Val802Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000700093] Chr4:54285451 [GRCh38]
Chr4:55151618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.367+3G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000698971] Chr4:54261415 [GRCh38]
Chr4:55127582 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2025G>C (p.Glu675Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000686158] Chr4:54278384 [GRCh38]
Chr4:55144551 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.772A>G (p.Ile258Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000686841]|Hereditary cancer-predisposing syndrome [RCV002397371]|not provided [RCV001766468] Chr4:54267301 [GRCh38]
Chr4:55133468 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1255G>T (p.Asp419Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000694677]|Inborn genetic diseases [RCV003243260] Chr4:54272411 [GRCh38]
Chr4:55138578 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1517_1518delinsCT (p.Leu506Pro) indel Gastrointestinal stromal tumor [RCV000701493] Chr4:54273689..54273690 [GRCh38]
Chr4:55139856..55139857 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1390A>G (p.Ile464Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000692991]|Hereditary cancer-predisposing syndrome [RCV002388244] Chr4:54273562 [GRCh38]
Chr4:55139729 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.550G>A (p.Val184Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000707244]|Hereditary cancer-predisposing syndrome [RCV003303198] Chr4:54263849 [GRCh38]
Chr4:55130016 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1267G>A (p.Asp423Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000694927]|Hereditary cancer-predisposing syndrome [RCV002369879]|not provided [RCV003442034] Chr4:54272423 [GRCh38]
Chr4:55138590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2740C>T (p.Arg914Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV000694935]|Hereditary cancer-predisposing syndrome [RCV002440474] Chr4:54288864 [GRCh38]
Chr4:55155031 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2088C>G (p.His696Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000701960] Chr4:54278447 [GRCh38]
Chr4:55144614 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2870A>G (p.Gln957Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000690774] Chr4:54289104 [GRCh38]
Chr4:55155271 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1189C>G (p.Gln397Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000707536] Chr4:54270700 [GRCh38]
Chr4:55136867 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2757C>G (p.Asp919Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000702390] Chr4:54288881 [GRCh38]
Chr4:55155048 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2720A>G (p.Asn907Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000688106]|Hereditary cancer-predisposing syndrome [RCV002424596] Chr4:54288844 [GRCh38]
Chr4:55155011 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.670G>C (p.Val224Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000693730]|Hereditary cancer-predisposing syndrome [RCV002360757] Chr4:54264960 [GRCh38]
Chr4:55131127 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000693757]|Hereditary cancer-predisposing syndrome [RCV002257934]|not provided [RCV002532242] Chr4:54273688 [GRCh38]
Chr4:55139855 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1133A>C (p.Lys378Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000702678]|Hereditary cancer-predisposing syndrome [RCV002325419] Chr4:54270644 [GRCh38]
Chr4:55136811 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2674+4T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000691328] Chr4:54287545 [GRCh38]
Chr4:55153712 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1850G>C (p.Arg617Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000693966]|Hereditary cancer-predisposing syndrome [RCV002406586]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003153806] Chr4:54277451 [GRCh38]
Chr4:55143618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.418G>T (p.Val140Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000705589] Chr4:54263717 [GRCh38]
Chr4:55129884 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3101T>C (p.Leu1034Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000691485]|Hereditary cancer-predisposing syndrome [RCV002325382]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472203] Chr4:54290533 [GRCh38]
Chr4:55156700 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.986T>C (p.Leu329Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000694062]|Hereditary cancer-predisposing syndrome [RCV002386208]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472213] Chr4:54267606 [GRCh38]
Chr4:55133773 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55140998)_(55161449_?)dup duplication Gastrointestinal stromal tumor [RCV000708011] Chr4:54274831..54295282 [GRCh38]
Chr4:55140998..55161449 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2380G>A (p.Asp794Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000688767]|Hereditary cancer-predisposing syndrome [RCV002458212] Chr4:54285427 [GRCh38]
Chr4:55151594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1697G>T (p.Ser566Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000688905] Chr4:54274884 [GRCh38]
Chr4:55141051 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2341C>T (p.Leu781Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000691623] Chr4:54285388 [GRCh38]
Chr4:55151555 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1580_1582del (p.Val527del) deletion Gastrointestinal stromal tumor [RCV000694244] Chr4:54274550..54274552 [GRCh38]
Chr4:55140717..55140719 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1723G>C (p.Val575Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000685422] Chr4:54274910 [GRCh38]
Chr4:55141077 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1388C>T (p.Thr463Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000689086] Chr4:54273560 [GRCh38]
Chr4:55139727 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2939T>C (p.Met980Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000694341]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472215] Chr4:54290371 [GRCh38]
Chr4:55156538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1057A>T (p.Asn353Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000689270] Chr4:54267677 [GRCh38]
Chr4:55133844 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.542C>T (p.Thr181Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000689288] Chr4:54263841 [GRCh38]
Chr4:55130008 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2890A>G (p.Lys964Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000689368]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472197] Chr4:54290322 [GRCh38]
Chr4:55156489 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.112G>A (p.Val38Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000706455]|Hereditary cancer-predisposing syndrome [RCV002325431] Chr4:54261157 [GRCh38]
Chr4:55127324 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124926)_(55151663_?)dup duplication Gastrointestinal stromal tumor [RCV000708460] Chr4:54258759..54285496 [GRCh38]
Chr4:55124926..55151663 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55153587)_(55604733_?)dup duplication Gastrointestinal stromal tumor [RCV000708461] Chr4:55153587..55604733 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.931+5A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000700829] Chr4:54267465 [GRCh38]
Chr4:55133632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.550G>T (p.Val184Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000700820] Chr4:54263849 [GRCh38]
Chr4:55130016 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2227G>A (p.Val743Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000694507] Chr4:54280386 [GRCh38]
Chr4:55146553 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.809A>C (p.Lys270Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000692417]|Hereditary cancer-predisposing syndrome [RCV001027166] Chr4:54267338 [GRCh38]
Chr4:55133505 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1672C>T (p.Arg558Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000697347]|Hereditary cancer-predisposing syndrome [RCV002397429] Chr4:54274859 [GRCh38]
Chr4:55141026 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1197A>T (p.Glu399Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000692622] Chr4:54270708 [GRCh38]
Chr4:55136875 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1869A>G (p.Lys623=) single nucleotide variant Gastrointestinal stromal tumor [RCV000706661] Chr4:54277470 [GRCh38]
Chr4:55143637 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2341C>A (p.Leu781Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000697558] Chr4:54285388 [GRCh38]
Chr4:55151555 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.916A>G (p.Thr306Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000687518]|Hereditary cancer-predisposing syndrome [RCV002369840] Chr4:54267445 [GRCh38]
Chr4:55133612 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1231A>C (p.Thr411Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000706713] Chr4:54270742 [GRCh38]
Chr4:55136909 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2141A>T (p.Asp714Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000697609]|Hereditary cancer-predisposing syndrome [RCV002424674] Chr4:54278500 [GRCh38]
Chr4:55144667 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.502G>C (p.Val168Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000687645]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472187] Chr4:54263801 [GRCh38]
Chr4:55129968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1693A>G (p.Ile565Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000687737]|Hereditary cancer-predisposing syndrome [RCV002397377] Chr4:54274880 [GRCh38]
Chr4:55141047 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2492T>C (p.Ile831Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000690144]|Hereditary cancer-predisposing syndrome [RCV002424613] Chr4:54285893 [GRCh38]
Chr4:55152060 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2351A>G (p.Asp784Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000693005] Chr4:54285398 [GRCh38]
Chr4:55151565 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000704554]|Idiopathic hypereosinophilic syndrome [RCV003130019] Chr4:54263876 [GRCh38]
Chr4:55130043 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2764A>C (p.Thr922Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000693186] Chr4:54288888 [GRCh38]
Chr4:55155055 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3236A>T (p.Asp1079Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000695341] Chr4:54295238 [GRCh38]
Chr4:55161405 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.433T>A (p.Ser145Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000695356] Chr4:54263732 [GRCh38]
Chr4:55129899 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2001A>G (p.Ser667=) single nucleotide variant Gastrointestinal stromal tumor [RCV000695358] Chr4:54278005 [GRCh38]
Chr4:55144172 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1354G>T (p.Asp452Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000695443]|Hereditary cancer-predisposing syndrome [RCV002386214] Chr4:54272510 [GRCh38]
Chr4:55138677 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.233G>A (p.Ser78Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000704776]|Hereditary cancer-predisposing syndrome [RCV003303187] Chr4:54261278 [GRCh38]
Chr4:55127445 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1284T>A (p.Thr428=) single nucleotide variant Gastrointestinal stromal tumor [RCV000695638]|Hereditary cancer-predisposing syndrome [RCV003372814] Chr4:54272440 [GRCh38]
Chr4:55138607 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2951C>T (p.Ser984Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000702667]|Hereditary cancer-predisposing syndrome [RCV002440519] Chr4:54290383 [GRCh38]
Chr4:55156550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3083T>A (p.Val1028Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000704829]|Hereditary cancer-predisposing syndrome [RCV002319565] Chr4:54290515 [GRCh38]
Chr4:55156682 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1730C>T (p.Pro577Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000707621]|Hereditary cancer-predisposing syndrome [RCV001012885] Chr4:54274917 [GRCh38]
Chr4:55141084 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3193G>A (p.Glu1065Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000695771]|Hereditary cancer-predisposing syndrome [RCV002442468]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472222] Chr4:54295195 [GRCh38]
Chr4:55161362 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3218T>C (p.Met1073Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000702935]|Hereditary cancer-predisposing syndrome [RCV002325420]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472241] Chr4:54295220 [GRCh38]
Chr4:55161387 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.11C>A (p.Ser4Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000705127] Chr4:54258779 [GRCh38]
Chr4:55124946 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2732G>T (p.Ser911Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000707719] Chr4:54288856 [GRCh38]
Chr4:55155023 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2722A>G (p.Lys908Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000695984] Chr4:54288846 [GRCh38]
Chr4:55155013 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1199A>G (p.Asp400Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000688693]|Hereditary cancer-predisposing syndrome [RCV002343442] Chr4:54270710 [GRCh38]
Chr4:55136877 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+6G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000691151] Chr4:54267747 [GRCh38]
Chr4:55133914 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1405_1406delinsTA (p.Val469Tyr) indel Gastrointestinal stromal tumor [RCV000685055] Chr4:54273577..54273578 [GRCh38]
Chr4:55139744..55139745 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.628+1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000694101] Chr4:54263928 [GRCh38]
Chr4:55130095 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1148G>A (p.Arg383His) single nucleotide variant Gastrointestinal stromal tumor [RCV000694110] Chr4:54270659 [GRCh38]
Chr4:55136826 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.638A>G (p.Glu213Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000685223] Chr4:54264928 [GRCh38]
Chr4:55131095 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1507G>A (p.Ala503Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000699709]|Hereditary cancer-predisposing syndrome [RCV003163239] Chr4:54273679 [GRCh38]
Chr4:55139846 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.828G>A (p.Thr276=) single nucleotide variant Gastrointestinal stromal tumor [RCV000685391]|Hereditary cancer-predisposing syndrome [RCV002424582] Chr4:54267357 [GRCh38]
Chr4:55133524 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1364+6G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000705636] Chr4:54272526 [GRCh38]
Chr4:55138693 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3099C>G (p.Asp1033Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000685699]|Hereditary cancer-predisposing syndrome [RCV003338731] Chr4:54290531 [GRCh38]
Chr4:55156698 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1786+4A>C single nucleotide variant Gastrointestinal stromal tumor [RCV000698871] Chr4:54274977 [GRCh38]
Chr4:55141144 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1823T>C (p.Val608Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000696864] Chr4:54277424 [GRCh38]
Chr4:55143591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1577C>T (p.Thr526Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000700389]|Hereditary cancer-predisposing syndrome [RCV002397445]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472234] Chr4:54274549 [GRCh38]
Chr4:55140716 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2548G>A (p.Val850Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000705889] Chr4:54285949 [GRCh38]
Chr4:55152116 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2086C>T (p.His696Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000694448]|Hereditary cancer-predisposing syndrome [RCV002422516] Chr4:54278445 [GRCh38]
Chr4:55144612 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.341G>C (p.Gly114Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000703510] Chr4:54261386 [GRCh38]
Chr4:55127553 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3125C>T (p.Ser1042Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000706159] Chr4:54295127 [GRCh38]
Chr4:55161294 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.632C>T (p.Thr211Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000689422] Chr4:54264922 [GRCh38]
Chr4:55131089 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1793T>C (p.Val598Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000689515]|Hereditary cancer-predisposing syndrome [RCV002397387] Chr4:54277394 [GRCh38]
Chr4:55143561 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2979del (p.Thr992_Tyr993insTer) deletion Gastrointestinal stromal tumor [RCV001043107] Chr4:54290411 [GRCh38]
Chr4:55156578 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-12-157A>G single nucleotide variant not provided [RCV001540514] Chr4:54258600 [GRCh38]
Chr4:55124767 [GRCh37]
Chr4:4q12		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006206.6(PDGFRA):c.2675-75T>C single nucleotide variant not provided [RCV001644498] Chr4:54288724 [GRCh38]
Chr4:55154891 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2160T>C (p.Tyr720=) single nucleotide variant Gastrointestinal stromal tumor [RCV000938120] Chr4:54280319 [GRCh38]
Chr4:55146486 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+129A>G single nucleotide variant not provided [RCV001541755] Chr4:54287670 [GRCh38]
Chr4:55153837 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3174C>T (p.Thr1058=) single nucleotide variant Gastrointestinal stromal tumor [RCV001463119]|Hereditary cancer-predisposing syndrome [RCV002320127] Chr4:54295176 [GRCh38]
Chr4:55161343 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+74A>T single nucleotide variant not provided [RCV001709124] Chr4:54258891 [GRCh38]
Chr4:55125058 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2943T>G (p.Arg981=) single nucleotide variant Gastrointestinal stromal tumor [RCV000894734]|Hereditary cancer-predisposing syndrome [RCV002434189] Chr4:54290375 [GRCh38]
Chr4:55156542 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1290A>G (p.Gly430=) single nucleotide variant Gastrointestinal stromal tumor [RCV001397619] Chr4:54272446 [GRCh38]
Chr4:55138613 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2308A>G (p.Lys770Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001065397] Chr4:54280467 [GRCh38]
Chr4:55146634 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1102T>G single nucleotide variant Gastrointestinal stromal tumor [RCV001146439]|Idiopathic hypereosinophilic syndrome [RCV001144515] Chr4:54296374 [GRCh38]
Chr4:55162541 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2368C>T (p.Leu790Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001046636]|Hereditary cancer-predisposing syndrome [RCV002451186] Chr4:54285415 [GRCh38]
Chr4:55151582 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NC_000004.12:g.(?_54270623)_(54295282_?)dup duplication Gastrointestinal stromal tumor [RCV001031956] Chr4:55136790..55161449 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2035T>C (p.Tyr679His) single nucleotide variant Gastrointestinal stromal tumor [RCV001044050]|Hereditary cancer-predisposing syndrome [RCV003160316] Chr4:54278394 [GRCh38]
Chr4:55144561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+277_2323+278del deletion not provided [RCV001577932] Chr4:54280755..54280756 [GRCh38]
Chr4:55146922..55146923 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1957_1958delinsTT (p.Pro653Leu) indel Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV000787299] Chr4:54277961..54277962 [GRCh38]
Chr4:55144128..55144129 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.2354A>T (p.Asp785Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001067316]|Hereditary cancer-predisposing syndrome [RCV003307916] Chr4:54285401 [GRCh38]
Chr4:55151568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*691G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149097]|Idiopathic hypereosinophilic syndrome [RCV001150606] Chr4:54295963 [GRCh38]
Chr4:55162130 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.535A>T (p.Asn179Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001216630]|Hereditary cancer-predisposing syndrome [RCV003163665] Chr4:54263834 [GRCh38]
Chr4:55130001 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+278T>A single nucleotide variant not provided [RCV001645121] Chr4:54280760 [GRCh38]
Chr4:55146927 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.576C>T (p.Thr192=) single nucleotide variant Gastrointestinal stromal tumor [RCV000922789]|Hereditary cancer-predisposing syndrome [RCV002354768] Chr4:54263875 [GRCh38]
Chr4:55130042 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.811T>C (p.Leu271=) single nucleotide variant Gastrointestinal stromal tumor [RCV001404249]|Hereditary cancer-predisposing syndrome [RCV002416212] Chr4:54267340 [GRCh38]
Chr4:55133507 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1504C>T (p.Leu502=) single nucleotide variant Gastrointestinal stromal tumor [RCV001455589] Chr4:54273676 [GRCh38]
Chr4:55139843 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001429129] Chr4:54263937 [GRCh38]
Chr4:55130104 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.924T>C (p.Ser308=) single nucleotide variant Gastrointestinal stromal tumor [RCV000924860]|Hereditary cancer-predisposing syndrome [RCV002372569] Chr4:54267453 [GRCh38]
Chr4:55133620 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2652G>C (p.Leu884=) single nucleotide variant Gastrointestinal stromal tumor [RCV001435013]|Hereditary cancer-predisposing syndrome [RCV002454133] Chr4:54287519 [GRCh38]
Chr4:55153686 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1053A>G (p.Lys351=) single nucleotide variant Gastrointestinal stromal tumor [RCV000869592]|Hereditary cancer-predisposing syndrome [RCV003169158] Chr4:54267673 [GRCh38]
Chr4:55133840 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1323G>A (p.Pro441=) single nucleotide variant Gastrointestinal stromal tumor [RCV000869378]|Hereditary cancer-predisposing syndrome [RCV001011015]|PDGFRA-related condition [RCV003920380] Chr4:54272479 [GRCh38]
Chr4:55138646 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.720T>C (p.Asn240=) single nucleotide variant Gastrointestinal stromal tumor [RCV001488812]|Hereditary cancer-predisposing syndrome [RCV002372452]|PDGFRA-related condition [RCV003965732] Chr4:54265010 [GRCh38]
Chr4:55131177 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.480C>G (p.Thr160=) single nucleotide variant Gastrointestinal stromal tumor [RCV001434107]|Hereditary cancer-predisposing syndrome [RCV002336924] Chr4:54263779 [GRCh38]
Chr4:55129946 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1200T>C (p.Asp400=) single nucleotide variant Gastrointestinal stromal tumor [RCV000870368]|Hereditary cancer-predisposing syndrome [RCV002345999] Chr4:54270711 [GRCh38]
Chr4:55136878 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.321A>G (p.Thr107=) single nucleotide variant Gastrointestinal stromal tumor [RCV000866888]|Hereditary cancer-predisposing syndrome [RCV002319978] Chr4:54261366 [GRCh38]
Chr4:55127533 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2187T>C (p.Gly729=) single nucleotide variant Gastrointestinal stromal tumor [RCV001416255] Chr4:54280346 [GRCh38]
Chr4:55146513 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3108G>A (p.Lys1036=) single nucleotide variant Gastrointestinal stromal tumor [RCV000870456] Chr4:54290540 [GRCh38]
Chr4:55156707 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001481008] Chr4:54270758 [GRCh38]
Chr4:55136925 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1452G>T (p.Val484=) single nucleotide variant Gastrointestinal stromal tumor [RCV000983296] Chr4:54273624 [GRCh38]
Chr4:55139791 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.276G>C (p.Ala92=) single nucleotide variant Gastrointestinal stromal tumor [RCV000937595]|Hereditary cancer-predisposing syndrome [RCV002434263] Chr4:54261321 [GRCh38]
Chr4:55127488 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1632C>T (p.Val544=) single nucleotide variant Gastrointestinal stromal tumor [RCV000921934] Chr4:54274604 [GRCh38]
Chr4:55140771 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-6A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000865553] Chr4:54285835 [GRCh38]
Chr4:55152002 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2055T>C (p.Tyr685=) single nucleotide variant Gastrointestinal stromal tumor [RCV000928933]|Hereditary cancer-predisposing syndrome [RCV003169335] Chr4:54278414 [GRCh38]
Chr4:55144581 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2229C>T (p.Val743=) single nucleotide variant Gastrointestinal stromal tumor [RCV000876738]|Hereditary cancer-predisposing syndrome [RCV002427220] Chr4:54280388 [GRCh38]
Chr4:55146555 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3180C>T (p.Ile1060=) single nucleotide variant Gastrointestinal stromal tumor [RCV000915724] Chr4:54295182 [GRCh38]
Chr4:55161349 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-5T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001501891] Chr4:54287425 [GRCh38]
Chr4:55153592 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2217T>A (p.Thr739=) single nucleotide variant Gastrointestinal stromal tumor [RCV000864543]|Hereditary cancer-predisposing syndrome [RCV002427115] Chr4:54280376 [GRCh38]
Chr4:55146543 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.237C>A (p.Gly79=) single nucleotide variant Gastrointestinal stromal tumor [RCV001440327]|Hereditary cancer-predisposing syndrome [RCV002454038] Chr4:54261282 [GRCh38]
Chr4:55127449 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1498C>A (p.Arg500=) single nucleotide variant Gastrointestinal stromal tumor [RCV000983244]|Hereditary cancer-predisposing syndrome [RCV002258079] Chr4:54273670 [GRCh38]
Chr4:55139837 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2454T>C (p.Asp818=) single nucleotide variant Gastrointestinal stromal tumor [RCV001505986]|Hereditary cancer-predisposing syndrome [RCV002427408] Chr4:54285855 [GRCh38]
Chr4:55152022 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+7G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000920330] Chr4:54278522 [GRCh38]
Chr4:55144689 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2377T>C (p.Leu793=) single nucleotide variant Gastrointestinal stromal tumor [RCV001495807]|Hereditary cancer-predisposing syndrome [RCV002454165] Chr4:54285424 [GRCh38]
Chr4:55151591 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2475C>T (p.Leu825=) single nucleotide variant Gastrointestinal stromal tumor [RCV001482851] Chr4:54285876 [GRCh38]
Chr4:55152043 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2036A>G (p.Tyr679Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001036727]|not provided [RCV001759938] Chr4:54278395 [GRCh38]
Chr4:55144562 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2472CCT[1] (p.Leu826del) microsatellite Gastrointestinal stromal tumor [RCV001061434] Chr4:54285872..54285874 [GRCh38]
Chr4:55152039..55152041 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.219T>A (p.Asn73Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001062370]|Hereditary cancer-predisposing syndrome [RCV003339451] Chr4:54261264 [GRCh38]
Chr4:55127431 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1529A>C (p.Glu510Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001037282] Chr4:54273701 [GRCh38]
Chr4:55139868 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1378A>G (p.Thr460Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001061503]|Hereditary cancer-predisposing syndrome [RCV003283941] Chr4:54273550 [GRCh38]
Chr4:55139717 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1539G>T (p.Glu513Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001058575] Chr4:54273711 [GRCh38]
Chr4:55139878 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.81dup (p.Pro28fs) duplication Gastrointestinal stromal tumor [RCV001061916] Chr4:54261125..54261126 [GRCh38]
Chr4:55127292..55127293 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.892G>A (p.Glu298Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001069473] Chr4:54267421 [GRCh38]
Chr4:55133588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3115A>G (p.Arg1039Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001053479] Chr4:54290547 [GRCh38]
Chr4:55156714 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3043G>A (p.Asp1015Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001058842] Chr4:54290475 [GRCh38]
Chr4:55156642 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.136T>A (p.Ser46Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001059029] Chr4:54261181 [GRCh38]
Chr4:55127348 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3214A>G (p.Met1072Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001071508]|Hereditary cancer-predisposing syndrome [RCV002320357] Chr4:54295216 [GRCh38]
Chr4:55161383 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2332G>A (p.Val778Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001037252] Chr4:54285379 [GRCh38]
Chr4:55151546 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.302A>T (p.Tyr101Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001059100] Chr4:54261347 [GRCh38]
Chr4:55127514 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1838A>G (p.Tyr613Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001059179] Chr4:54277439 [GRCh38]
Chr4:55143606 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2974A>G (p.Thr992Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001050005] Chr4:54290406 [GRCh38]
Chr4:55156573 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.568G>A (p.Glu190Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001050006]|Hereditary cancer-predisposing syndrome [RCV002348391] Chr4:54263867 [GRCh38]
Chr4:55130034 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+6G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001038477] Chr4:54272526 [GRCh38]
Chr4:55138693 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.14A>G (p.His5Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001059317]|Hereditary cancer-predisposing syndrome [RCV002393286] Chr4:54258782 [GRCh38]
Chr4:55124949 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1433C>T (p.Ser478Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001059344]|Hereditary cancer-predisposing syndrome [RCV002393287] Chr4:54273605 [GRCh38]
Chr4:55139772 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2215A>T (p.Thr739Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001050214]|not provided [RCV003480925] Chr4:54280374 [GRCh38]
Chr4:55146541 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.779T>A (p.Met260Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001052303]|Hereditary cancer-predisposing syndrome [RCV002409436] Chr4:54267308 [GRCh38]
Chr4:55133475 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124936)_(55604723_?)dup duplication Gastrointestinal stromal tumor [RCV001032589] Chr4:55124936..55604723 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2014A>G (p.Ile672Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001050433]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473641] Chr4:54278373 [GRCh38]
Chr4:55144540 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.12:g.(?_54258769)_(54261422_?)del deletion Gastrointestinal stromal tumor [RCV001032816] Chr4:55124936..55127589 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1657C>T (p.Pro553Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001070516] Chr4:54274844 [GRCh38]
Chr4:55141011 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3188A>G (p.Glu1063Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001054143] Chr4:54295190 [GRCh38]
Chr4:55161357 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001050646] Chr4:54285490 [GRCh38]
Chr4:55151657 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2287G>C (p.Asp763His) single nucleotide variant Gastrointestinal stromal tumor [RCV001050655]|Hereditary cancer-predisposing syndrome [RCV002445267] Chr4:54280446 [GRCh38]
Chr4:55146613 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558A>G (p.Thr520Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001060603] Chr4:54273730 [GRCh38]
Chr4:55139897 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.428A>T (p.Asp143Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001992354] Chr4:54263727 [GRCh38]
Chr4:55129894 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1377A>T (p.Glu459Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001054523] Chr4:54273549 [GRCh38]
Chr4:55139716 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2969G>C (p.Gly990Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001057704] Chr4:54290401 [GRCh38]
Chr4:55156568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.452G>T (p.Arg151Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000807402] Chr4:54263751 [GRCh38]
Chr4:55129918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV000787300] Chr4:54285938 [GRCh38]
Chr4:55152105 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.2941C>T (p.Arg981Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000792122]|Inborn genetic diseases [RCV002535862] Chr4:54290373 [GRCh38]
Chr4:55156540 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2517G>T (p.Leu839=) single nucleotide variant Gastrointestinal stromal tumor [RCV000983456]|Hereditary cancer-predisposing syndrome [RCV002427433] Chr4:54285918 [GRCh38]
Chr4:55152085 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2112G>A (p.Glu704=) single nucleotide variant Gastrointestinal stromal tumor [RCV000926229]|Hereditary cancer-predisposing syndrome [RCV003169330] Chr4:54278471 [GRCh38]
Chr4:55144638 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.81A>G (p.Leu27=) single nucleotide variant Gastrointestinal stromal tumor [RCV000876276]|Hereditary cancer-predisposing syndrome [RCV002427214] Chr4:54261126 [GRCh38]
Chr4:55127293 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.417C>T (p.Ile139=) single nucleotide variant Gastrointestinal stromal tumor [RCV000978264]|Hereditary cancer-predisposing syndrome [RCV003169501] Chr4:54263716 [GRCh38]
Chr4:55129883 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1257C>T (p.Asp419=) single nucleotide variant Gastrointestinal stromal tumor [RCV001392728] Chr4:54272413 [GRCh38]
Chr4:55138580 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.114T>C (p.Val38=) single nucleotide variant Gastrointestinal stromal tumor [RCV001491362]|Hereditary cancer-predisposing syndrome [RCV002454025] Chr4:54261159 [GRCh38]
Chr4:55127326 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001402753] Chr4:54261089 [GRCh38]
Chr4:55127256 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002539104] Chr4:54288906 [GRCh38]
Chr4:55155073 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.558C>G (p.Pro186=) single nucleotide variant Gastrointestinal stromal tumor [RCV001503098]|Hereditary cancer-predisposing syndrome [RCV002345970] Chr4:54263857 [GRCh38]
Chr4:55130024 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-8T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000931137] Chr4:54270625 [GRCh38]
Chr4:55136792 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2037T>C (p.Tyr679=) single nucleotide variant Gastrointestinal stromal tumor [RCV001464481] Chr4:54278396 [GRCh38]
Chr4:55144563 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1326T>C (p.Leu442=) single nucleotide variant Gastrointestinal stromal tumor [RCV001430167]|Hereditary cancer-predisposing syndrome [RCV002382215] Chr4:54272482 [GRCh38]
Chr4:55138649 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2361A>G (p.Ser787=) single nucleotide variant Gastrointestinal stromal tumor [RCV000870173]|Hereditary cancer-predisposing syndrome [RCV003307631] Chr4:54285408 [GRCh38]
Chr4:55151575 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3126G>A (p.Ser1042=) single nucleotide variant Gastrointestinal stromal tumor [RCV000892362]|Hereditary cancer-predisposing syndrome [RCV001018742]|PDGFRA-related condition [RCV003957968] Chr4:54295128 [GRCh38]
Chr4:55161295 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=) single nucleotide variant Gastrointestinal stromal tumor [RCV000874394]|Hereditary cancer-predisposing syndrome [RCV002409102]|Idiopathic hypereosinophilic syndrome [RCV001148847] Chr4:54277395 [GRCh38]
Chr4:55143562 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1542G>A (p.Leu514=) single nucleotide variant not provided [RCV000874396] Chr4:54273714 [GRCh38]
Chr4:55139881 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.849A>G (p.Lys283=) single nucleotide variant Gastrointestinal stromal tumor [RCV000863218]|Hereditary cancer-predisposing syndrome [RCV002442800] Chr4:54267378 [GRCh38]
Chr4:55133545 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1575C>G (p.Leu525=) single nucleotide variant Gastrointestinal stromal tumor [RCV000920499]|Hereditary cancer-predisposing syndrome [RCV002400011] Chr4:54274547 [GRCh38]
Chr4:55140714 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2455C>T (p.Leu819=) single nucleotide variant Gastrointestinal stromal tumor [RCV000940323]|Hereditary cancer-predisposing syndrome [RCV002445078] Chr4:54285856 [GRCh38]
Chr4:55152023 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2547T>C (p.Tyr849=) single nucleotide variant Gastrointestinal stromal tumor [RCV000874612]|Hereditary cancer-predisposing syndrome [RCV002434142] Chr4:54285948 [GRCh38]
Chr4:55152115 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+7G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000983242] Chr4:54287548 [GRCh38]
Chr4:55153715 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2721T>C (p.Asn907=) single nucleotide variant Gastrointestinal stromal tumor [RCV001394991] Chr4:54288845 [GRCh38]
Chr4:55155012 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2085C>T (p.Ser695=) single nucleotide variant Gastrointestinal stromal tumor [RCV000931962]|Hereditary cancer-predisposing syndrome [RCV001014378] Chr4:54278444 [GRCh38]
Chr4:55144611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.78A>G (p.Ser26=) single nucleotide variant Gastrointestinal stromal tumor [RCV000978636]|Hereditary cancer-predisposing syndrome [RCV002409298] Chr4:54261123 [GRCh38]
Chr4:55127290 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1981C>T (p.Leu661=) single nucleotide variant Gastrointestinal stromal tumor [RCV000938937]|Hereditary cancer-predisposing syndrome [RCV002416194] Chr4:54277985 [GRCh38]
Chr4:55144152 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.891G>A (p.Arg297=) single nucleotide variant Gastrointestinal stromal tumor [RCV001487643] Chr4:54267420 [GRCh38]
Chr4:55133587 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2445C>G (p.Val815=) single nucleotide variant Gastrointestinal stromal tumor [RCV000884518]|Hereditary cancer-predisposing syndrome [RCV003307663] Chr4:54285846 [GRCh38]
Chr4:55152013 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2121C>A (p.Ile707=) single nucleotide variant Gastrointestinal stromal tumor [RCV001466643]|Hereditary cancer-predisposing syndrome [RCV003307648] Chr4:54278480 [GRCh38]
Chr4:55144647 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3072C>T (p.Asp1024=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419828]|Hereditary cancer-predisposing syndrome [RCV002319601] Chr4:54290504 [GRCh38]
Chr4:55156671 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.702C>T (p.Thr234=) single nucleotide variant Gastrointestinal stromal tumor [RCV001478702]|Hereditary cancer-predisposing syndrome [RCV003338876] Chr4:54264992 [GRCh38]
Chr4:55131159 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1371T>C (p.Asn457=) single nucleotide variant Gastrointestinal stromal tumor [RCV001475155]|Hereditary cancer-predisposing syndrome [RCV001011240] Chr4:54273543 [GRCh38]
Chr4:55139710 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1350C>A (p.Cys450Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV000820737] Chr4:54272506 [GRCh38]
Chr4:55138673 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3040G>C (p.Ala1014Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV000797287] Chr4:54290472 [GRCh38]
Chr4:55156639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2186G>T (p.Gly729Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000796247]|Hereditary cancer-predisposing syndrome [RCV003372850] Chr4:54280345 [GRCh38]
Chr4:55146512 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3164G>A (p.Ser1055Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000822969] Chr4:54295166 [GRCh38]
Chr4:55161333 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2069G>T (p.Arg690Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000797661]|Hereditary cancer-predisposing syndrome [RCV002422719]|not provided [RCV003324793] Chr4:54278428 [GRCh38]
Chr4:55144595 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1869A>T (p.Lys623Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000796833] Chr4:54277470 [GRCh38]
Chr4:55143637 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+3A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000817477] Chr4:54272523 [GRCh38]
Chr4:55138690 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.517G>C (p.Asp173His) single nucleotide variant Gastrointestinal stromal tumor [RCV000802842]|Hereditary cancer-predisposing syndrome [RCV002336615] Chr4:54263816 [GRCh38]
Chr4:55129983 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2933C>G (p.Ala978Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000804716] Chr4:54290365 [GRCh38]
Chr4:55156532 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.175T>A (p.Tyr59Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000797947]|Hereditary cancer-predisposing syndrome [RCV001013007] Chr4:54261220 [GRCh38]
Chr4:55127387 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1918G>T (p.Ala640Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000797016]|Hereditary cancer-predisposing syndrome [RCV002406749] Chr4:54277922 [GRCh38]
Chr4:55144089 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2747C>G (p.Ala916Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000797022] Chr4:54288871 [GRCh38]
Chr4:55155038 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2781G>C (p.Glu927Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000799517]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472360] Chr4:54289015 [GRCh38]
Chr4:55155182 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.979G>A (p.Val327Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000823420] Chr4:54267599 [GRCh38]
Chr4:55133766 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2060A>T (p.His687Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000823508] Chr4:54278419 [GRCh38]
Chr4:55144586 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1330G>C (p.Asp444His) single nucleotide variant Gastrointestinal stromal tumor [RCV000810543] Chr4:54272486 [GRCh38]
Chr4:55138653 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3085C>G (p.Pro1029Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000813803] Chr4:54290517 [GRCh38]
Chr4:55156684 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1991G>A (p.Cys664Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV000799694] Chr4:54277995 [GRCh38]
Chr4:55144162 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1535G>A (p.Arg512Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000801302]|Hereditary cancer-predisposing syndrome [RCV001012081] Chr4:54273707 [GRCh38]
Chr4:55139874 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2222A>G (p.Gln741Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000819432] Chr4:54280381 [GRCh38]
Chr4:55146548 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.357C>G (p.Ile119Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000804979] Chr4:54261402 [GRCh38]
Chr4:55127569 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1102G>C (p.Glu368Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV000819656] Chr4:54267722 [GRCh38]
Chr4:55133889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1403A>G (p.Asn468Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000803296] Chr4:54273575 [GRCh38]
Chr4:55139742 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3182A>G (p.Lys1061Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000824468] Chr4:54295184 [GRCh38]
Chr4:55161351 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1358T>C (p.Ile453Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000819985] Chr4:54272514 [GRCh38]
Chr4:55138681 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.307A>G (p.Asn103Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000814816] Chr4:54261352 [GRCh38]
Chr4:55127519 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2802C>A (p.Asn934Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000800162] Chr4:54289036 [GRCh38]
Chr4:55155203 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000818308]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473502] Chr4:54280393 [GRCh38]
Chr4:55146560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+5A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000818365] Chr4:54274630 [GRCh38]
Chr4:55140797 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2365G>C (p.Gly789Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000818379] Chr4:54285412 [GRCh38]
Chr4:55151579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.491G>T (p.Ser164Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000821982] Chr4:54263790 [GRCh38]
Chr4:55129957 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2977T>A (p.Tyr993Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000821997]|Hereditary cancer-predisposing syndrome [RCV002259034] Chr4:54290409 [GRCh38]
Chr4:55156576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1552G>T (p.Ala518Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000808013]|Hereditary cancer-predisposing syndrome [RCV003307491] Chr4:54273724 [GRCh38]
Chr4:55139891 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2344C>G (p.Leu782Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000791591] Chr4:54285391 [GRCh38]
Chr4:55151558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-5C>G single nucleotide variant Gastrointestinal stromal tumor [RCV000800342] Chr4:54277383 [GRCh38]
Chr4:55143550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.658G>A (p.Ala220Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000802028] Chr4:54264948 [GRCh38]
Chr4:55131115 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.895G>A (p.Val299Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000803893]|Inborn genetic diseases [RCV002537164] Chr4:54267424 [GRCh38]
Chr4:55133591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2137G>A (p.Ala713Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000817004]|Hereditary cancer-predisposing syndrome [RCV002427022] Chr4:54278496 [GRCh38]
Chr4:55144663 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.779T>G (p.Met260Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000805739] Chr4:54267308 [GRCh38]
Chr4:55133475 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2742G>A (p.Arg914=) single nucleotide variant Gastrointestinal stromal tumor [RCV001464482]|Hereditary cancer-predisposing syndrome [RCV002434257] Chr4:54288866 [GRCh38]
Chr4:55155033 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2489A>G (p.Lys830Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000795574] Chr4:54285890 [GRCh38]
Chr4:55152057 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1490T>C (p.Ile497Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000799040]|Hereditary cancer-predisposing syndrome [RCV002388464] Chr4:54273662 [GRCh38]
Chr4:55139829 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.43C>T (p.Leu15Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000802248] Chr4:54258811 [GRCh38]
Chr4:55124978 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2114T>G (p.Leu705Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000792312] Chr4:54278473 [GRCh38]
Chr4:55144640 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.197G>T (p.Ser66Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000800784]|Hereditary cancer-predisposing syndrome [RCV002422738] Chr4:54261242 [GRCh38]
Chr4:55127409 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1742C>T (p.Pro581Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000800799]|Hereditary cancer-predisposing syndrome [RCV002397613] Chr4:54274929 [GRCh38]
Chr4:55141096 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2302T>C (p.Tyr768His) single nucleotide variant Gastrointestinal stromal tumor [RCV000802439] Chr4:54280461 [GRCh38]
Chr4:55146628 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000809349]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472402]|not provided [RCV003442096] Chr4:54280444 [GRCh38]
Chr4:55146611 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+4T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000813461] Chr4:54272524 [GRCh38]
Chr4:55138691 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1891+1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV000793231] Chr4:54277493 [GRCh38]
Chr4:55143660 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.212T>C (p.Ile71Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000799205]|Hereditary cancer-predisposing syndrome [RCV002422729] Chr4:54261257 [GRCh38]
Chr4:55127424 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1322C>T (p.Pro441Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000815848] Chr4:54272478 [GRCh38]
Chr4:55138645 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3038G>A (p.Ser1013Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000793741] Chr4:54290470 [GRCh38]
Chr4:55156637 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2918A>G (p.Asp973Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000799943] Chr4:54290350 [GRCh38]
Chr4:55156517 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.415A>G (p.Ile139Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000816518] Chr4:54263714 [GRCh38]
Chr4:55129881 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2449C>T (p.Arg817Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000806862]|Hereditary cancer-predisposing syndrome [RCV002424878]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472390] Chr4:54285850 [GRCh38]
Chr4:55152017 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2677G>A (p.Gly893Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000820477] Chr4:54288801 [GRCh38]
Chr4:55154968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.349A>G (p.Ile117Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000804133] Chr4:54261394 [GRCh38]
Chr4:55127561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1426A>C (p.Ile476Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000807322]|Hereditary cancer-predisposing syndrome [RCV003166264] Chr4:54273598 [GRCh38]
Chr4:55139765 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1721A>T (p.Tyr574Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000820754] Chr4:54274908 [GRCh38]
Chr4:55141075 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1832C>T (p.Thr611Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000801467] Chr4:54277433 [GRCh38]
Chr4:55143600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3019C>A (p.Leu1007Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000804924]|Hereditary cancer-predisposing syndrome [RCV002440709] Chr4:54290451 [GRCh38]
Chr4:55156618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.412G>C (p.Val138Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000808360] Chr4:54263711 [GRCh38]
Chr4:55129878 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2215A>G (p.Thr739Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000792204]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472335] Chr4:54280374 [GRCh38]
Chr4:55146541 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2946G>A (p.Val982=) single nucleotide variant Gastrointestinal stromal tumor [RCV000814844]|Hereditary cancer-predisposing syndrome [RCV002433977] Chr4:54290378 [GRCh38]
Chr4:55156545 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1352A>C (p.Lys451Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000808844]|Hereditary cancer-predisposing syndrome [RCV002381793]|PDGFRA-related condition [RCV003413623] Chr4:54272508 [GRCh38]
Chr4:55138675 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2324-1G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000794992] Chr4:54285370 [GRCh38]
Chr4:55151537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.717C>G (p.Asn239Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000798613] Chr4:54265007 [GRCh38]
Chr4:55131174 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV000798934] Chr4:54278358 [GRCh38]
Chr4:55144525 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV000809533]|Idiopathic hypereosinophilic syndrome [RCV002501097] Chr4:54295202 [GRCh38]
Chr4:55161369 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1147C>T (p.Arg383Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000793125] Chr4:54270658 [GRCh38]
Chr4:55136825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1238-4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003526026]|Hereditary cancer-predisposing syndrome [RCV001010489] Chr4:54272390 [GRCh38]
Chr4:55138557 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.*590C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149095]|Idiopathic hypereosinophilic syndrome [RCV001149096] Chr4:54295862 [GRCh38]
Chr4:55162029 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1426A>T (p.Ile476Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000811691]|Hereditary cancer-predisposing syndrome [RCV002390640] Chr4:54273598 [GRCh38]
Chr4:55139765 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.327G>T (p.Glu109Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019635] Chr4:54261372 [GRCh38]
Chr4:55127539 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.283A>T (p.Thr95Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000812041] Chr4:54261328 [GRCh38]
Chr4:55127495 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.750T>A (p.Pro250=) single nucleotide variant Gastrointestinal stromal tumor [RCV000806440] Chr4:54265040 [GRCh38]
Chr4:55131207 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1928C>G (p.Ser643Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001045921] Chr4:54277932 [GRCh38]
Chr4:55144099 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.724G>T (p.Val242Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001068473] Chr4:54265014 [GRCh38]
Chr4:55131181 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2494G>A (p.Val832Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000796250]|Hereditary cancer-predisposing syndrome [RCV003166135] Chr4:54285895 [GRCh38]
Chr4:55152062 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2226C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149330]|Idiopathic hypereosinophilic syndrome [RCV001147780] Chr4:54297498 [GRCh38]
Chr4:55163665 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1140G>T (p.Lys380Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000791748] Chr4:54270651 [GRCh38]
Chr4:55136818 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2913G>T (p.Lys971Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000794234] Chr4:54290345 [GRCh38]
Chr4:55156512 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.509C>T (p.Ala170Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000794444] Chr4:54263808 [GRCh38]
Chr4:55129975 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3148A>T (p.Ile1050Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000794543] Chr4:54295150 [GRCh38]
Chr4:55161317 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.325G>A (p.Glu109Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000811204] Chr4:54261370 [GRCh38]
Chr4:55127537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2358C>G (p.Asn786Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000792696]|Hereditary cancer-predisposing syndrome [RCV002442615] Chr4:54285405 [GRCh38]
Chr4:55151572 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124926)_(55161449_?)dup duplication Gastrointestinal stromal tumor [RCV000811358] Chr4:54258759..54295282 [GRCh38]
Chr4:55124926..55161449 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1495G>A (p.Val499Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000821266]|Hereditary cancer-predisposing syndrome [RCV003169022]|not provided [RCV003227865] Chr4:54273667 [GRCh38]
Chr4:55139834 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.158G>T (p.Ser53Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV000810227] Chr4:54261203 [GRCh38]
Chr4:55127370 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2960C>T (p.Ala987Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000818203]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473500] Chr4:54290392 [GRCh38]
Chr4:55156559 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.581A>G (p.Lys194Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000818279]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473501] Chr4:54263880 [GRCh38]
Chr4:55130047 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.770G>A (p.Gly257Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV000821640] Chr4:54267299 [GRCh38]
Chr4:55133466 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2146A>G (p.Ser716Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000824599]|not provided [RCV003328636] Chr4:54278505 [GRCh38]
Chr4:55144672 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.497G>T (p.Gly166Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000812725] Chr4:54263796 [GRCh38]
Chr4:55129963 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.572C>G (p.Ala191Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000805506]|Hereditary cancer-predisposing syndrome [RCV002345808] Chr4:54263871 [GRCh38]
Chr4:55130038 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.560A>T (p.Tyr187Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV000821972]|Hereditary cancer-predisposing syndrome [RCV002345902] Chr4:54263859 [GRCh38]
Chr4:55130026 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1211G>A (p.Ser404Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000822026]|Hereditary cancer-predisposing syndrome [RCV002352461] Chr4:54270722 [GRCh38]
Chr4:55136889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2710A>G (p.Thr904Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV000794212] Chr4:54288834 [GRCh38]
Chr4:55155001 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1493C>T (p.Ala498Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000812776]|Hereditary cancer-predisposing syndrome [RCV003166317] Chr4:54273665 [GRCh38]
Chr4:55139832 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2701G>T (p.Val901Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000815440] Chr4:54288825 [GRCh38]
Chr4:55154992 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.900A>G (p.Lys300=) single nucleotide variant Gastrointestinal stromal tumor [RCV001423302]|Hereditary cancer-predisposing syndrome [RCV002372478]|PDGFRA-related condition [RCV003975455] Chr4:54267429 [GRCh38]
Chr4:55133596 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.79_81dup (p.Leu27dup) duplication Gastrointestinal stromal tumor [RCV000802927] Chr4:54261122..54261123 [GRCh38]
Chr4:55127289..55127290 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2887G>A (p.Glu963Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV000811173]|Hereditary cancer-predisposing syndrome [RCV003166300]|PDGFRA-related condition [RCV003413632] Chr4:54290319 [GRCh38]
Chr4:55156486 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.464C>G (p.Pro155Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000816779] Chr4:54263763 [GRCh38]
Chr4:55129930 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2692G>A (p.Gly898Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV000813750]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003472420] Chr4:54288816 [GRCh38]
Chr4:55154983 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3148A>C (p.Ile1050Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV000817014] Chr4:54295150 [GRCh38]
Chr4:55161317 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775C>T (p.Val925=) single nucleotide variant Gastrointestinal stromal tumor [RCV000803755]|Hereditary cancer-predisposing syndrome [RCV002440700] Chr4:54289009 [GRCh38]
Chr4:55155176 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1653+4G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000800750] Chr4:54274629 [GRCh38]
Chr4:55140796 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.168C>A (p.Ser56Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV000792848] Chr4:54261213 [GRCh38]
Chr4:55127380 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1126C>G (p.Arg376Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV000804333] Chr4:54270637 [GRCh38]
Chr4:55136804 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1151C>T (p.Ala384Val) single nucleotide variant Gastrointestinal stromal tumor [RCV000809614] Chr4:54270662 [GRCh38]
Chr4:55136829 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.244G>A (p.Val82Met) single nucleotide variant Gastrointestinal stromal tumor [RCV000811929]|Hereditary cancer-predisposing syndrome [RCV002442717] Chr4:54261289 [GRCh38]
Chr4:55127456 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.479C>A (p.Thr160Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV000814416] Chr4:54263778 [GRCh38]
Chr4:55129945 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2190C>A (p.Asp730Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV000824020] Chr4:54280349 [GRCh38]
Chr4:55146516 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000876471] Chr4:54274521 [GRCh38]
Chr4:55140688 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2942G>T (p.Arg981Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001068415]|not provided [RCV003227002] Chr4:54290374 [GRCh38]
Chr4:55156541 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=) single nucleotide variant Gastrointestinal stromal tumor [RCV001148978]|Hereditary cancer-predisposing syndrome [RCV002320375]|Idiopathic hypereosinophilic syndrome [RCV001150487] Chr4:54295197 [GRCh38]
Chr4:55161364 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1402A>G (p.Asn468Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001043076] Chr4:54273574 [GRCh38]
Chr4:55139741 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1373A>G (p.Asn458Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001065070] Chr4:54273545 [GRCh38]
Chr4:55139712 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3226A>C (p.Ile1076Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019313] Chr4:54295228 [GRCh38]
Chr4:55161395 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3230G>A (p.Gly1077Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019325] Chr4:54295232 [GRCh38]
Chr4:55161399 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.969G>T (p.Gln323His) single nucleotide variant Gastrointestinal stromal tumor [RCV001873318]|Hereditary cancer-predisposing syndrome [RCV001019648] Chr4:54267589 [GRCh38]
Chr4:55133756 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1435C>T (p.Arg479Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001993531] Chr4:54273607 [GRCh38]
Chr4:55139774 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1187C>T (p.Ala396Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001043526] Chr4:54270698 [GRCh38]
Chr4:55136865 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.25C>G (p.Leu9Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001992266] Chr4:54258793 [GRCh38]
Chr4:55124960 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.26T>C (p.Leu9Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001223933] Chr4:54258794 [GRCh38]
Chr4:55124961 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2703G>A (p.Val901=) single nucleotide variant Gastrointestinal stromal tumor [RCV001223245] Chr4:54288827 [GRCh38]
Chr4:55154994 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2657G>A (p.Trp886Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001223269] Chr4:54287524 [GRCh38]
Chr4:55153691 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1445G>A (p.Ser482Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001214724]|Hereditary cancer-predisposing syndrome [RCV002393497] Chr4:54273617 [GRCh38]
Chr4:55139784 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.634T>C (p.Ser212Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001215362] Chr4:54264924 [GRCh38]
Chr4:55131091 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3232A>G (p.Ile1078Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001209252] Chr4:54295234 [GRCh38]
Chr4:55161401 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.944T>C (p.Ile315Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001224355] Chr4:54267564 [GRCh38]
Chr4:55133731 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+5A>C single nucleotide variant Gastrointestinal stromal tumor [RCV001225848] Chr4:54280487 [GRCh38]
Chr4:55146654 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2342T>A (p.Leu781His) single nucleotide variant Gastrointestinal stromal tumor [RCV001220945]|Hereditary cancer-predisposing syndrome [RCV002429937]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473775] Chr4:54285389 [GRCh38]
Chr4:55151556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.458C>A (p.Thr153Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022742] Chr4:54263757 [GRCh38]
Chr4:55129924 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1298T>C (p.Val433Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001246477]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473831] Chr4:54272454 [GRCh38]
Chr4:55138621 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.931+4C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001247970] Chr4:54267464 [GRCh38]
Chr4:55133631 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1186G>T (p.Ala396Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001224995]|Hereditary cancer-predisposing syndrome [RCV003294075] Chr4:54270697 [GRCh38]
Chr4:55136864 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2303A>G (p.Tyr768Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001206090]|Hereditary cancer-predisposing syndrome [RCV002429879]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473750] Chr4:54280462 [GRCh38]
Chr4:55146629 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2379G>A (p.Leu793=) single nucleotide variant Gastrointestinal stromal tumor [RCV001207161] Chr4:54285426 [GRCh38]
Chr4:55151593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2863C>T (p.Pro955Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001207025]|Hereditary cancer-predisposing syndrome [RCV002436798] Chr4:54289097 [GRCh38]
Chr4:55155264 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3149T>C (p.Ile1050Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001236589] Chr4:54295151 [GRCh38]
Chr4:55161318 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2378T>G (p.Leu793Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV001235896] Chr4:54285425 [GRCh38]
Chr4:55151592 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2197G>A (p.Asp733Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001201536] Chr4:54280356 [GRCh38]
Chr4:55146523 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2317_2318del (p.Met773fs) deletion Gastrointestinal stromal tumor [RCV001207340] Chr4:54280475..54280476 [GRCh38]
Chr4:55146642..55146643 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.497G>A (p.Gly166Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001210366] Chr4:54263796 [GRCh38]
Chr4:55129963 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.938G>A (p.Gly313Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001216023] Chr4:54267558 [GRCh38]
Chr4:55133725 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2902G>C (p.Asp968His) single nucleotide variant Gastrointestinal stromal tumor [RCV001216932] Chr4:54290334 [GRCh38]
Chr4:55156501 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3221_3222delinsGC (p.Asp1074Gly) indel Gastrointestinal stromal tumor [RCV001221961] Chr4:54295223..54295224 [GRCh38]
Chr4:55161390..55161391 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.4(PDGFRA):c.51dup duplication Gastrointestinal stromal tumor [RCV001226968] Chr4:54261093..54261094 [GRCh38]
Chr4:55127260..55127261 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1998_1999delinsTC (p.Lys666_Ser667delinsAsnPro) indel Gastrointestinal stromal tumor [RCV001227529] Chr4:54278002..54278003 [GRCh38]
Chr4:55144169..55144170 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1677G>C (p.Trp559Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001234285]|Hereditary cancer-predisposing syndrome [RCV003294112] Chr4:54274864 [GRCh38]
Chr4:55141031 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2293C>A (p.Pro765Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001234846]|Hereditary cancer-predisposing syndrome [RCV002447175] Chr4:54280452 [GRCh38]
Chr4:55146619 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.320C>T (p.Thr107Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001223773]|Hereditary cancer-predisposing syndrome [RCV002322083] Chr4:54261365 [GRCh38]
Chr4:55127532 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3068C>T (p.Pro1023Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001233331] Chr4:54290500 [GRCh38]
Chr4:55156667 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2856T>A (p.Asn952Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001231756]|Hereditary cancer-predisposing syndrome [RCV002436905] Chr4:54289090 [GRCh38]
Chr4:55155257 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3023A>G (p.Asp1008Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001232000] Chr4:54290455 [GRCh38]
Chr4:55156622 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.430G>T (p.Asp144Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001232248]|Hereditary cancer-predisposing syndrome [RCV002327557] Chr4:54263729 [GRCh38]
Chr4:55129896 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1771G>A (p.Asp591Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001239830] Chr4:54274958 [GRCh38]
Chr4:55141125 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2730G>C (p.Lys910Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001230706] Chr4:54288854 [GRCh38]
Chr4:55155021 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2005C>G (p.Pro669Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001229558] Chr4:54278364 [GRCh38]
Chr4:55144531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1496T>C (p.Val499Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001237536] Chr4:54273668 [GRCh38]
Chr4:55139835 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3041_3042delinsGG (p.Ala1014Gly) indel Gastrointestinal stromal tumor [RCV001237809] Chr4:54290473..54290474 [GRCh38]
Chr4:55156640..55156641 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.334C>T (p.Leu112Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001244390]|Ovarian cancer [RCV003153958] Chr4:54261379 [GRCh38]
Chr4:55127546 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.*1195A>C single nucleotide variant Gastrointestinal stromal tumor [RCV001146442]|Idiopathic hypereosinophilic syndrome [RCV001146443] Chr4:54296467 [GRCh38]
Chr4:55162634 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1126C>T (p.Arg376Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001237513] Chr4:54270637 [GRCh38]
Chr4:55136804 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2100A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001146560]|Idiopathic hypereosinophilic syndrome [RCV001146561] Chr4:54297372 [GRCh38]
Chr4:55163539 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1249A>T (p.Ile417Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001233687] Chr4:54272405 [GRCh38]
Chr4:55138572 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=) single nucleotide variant Gastrointestinal stromal tumor [RCV001148611]|Hereditary cancer-predisposing syndrome [RCV001020356]|Idiopathic hypereosinophilic syndrome [RCV001148612] Chr4:54261390 [GRCh38]
Chr4:55127557 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1252C>G (p.Leu418Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001234370] Chr4:54272408 [GRCh38]
Chr4:55138575 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.19G>T (p.Ala7Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001223496] Chr4:54258787 [GRCh38]
Chr4:55124954 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.542C>A (p.Thr181Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001047296]|Hereditary cancer-predisposing syndrome [RCV002348378] Chr4:54263841 [GRCh38]
Chr4:55130008 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.454A>G (p.Thr152Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001231142] Chr4:54263753 [GRCh38]
Chr4:55129920 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2788G>A (p.Val930Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001231970] Chr4:54289022 [GRCh38]
Chr4:55155189 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*479C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001146296]|Idiopathic hypereosinophilic syndrome [RCV001149094] Chr4:54295751 [GRCh38]
Chr4:55161918 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.629-169C>T single nucleotide variant not provided [RCV001550234] Chr4:54264750 [GRCh38]
Chr4:55130917 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2038G>A (p.Gly680Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003106585] Chr4:54278397 [GRCh38]
Chr4:55144564 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+291del deletion not provided [RCV001567266] Chr4:54280772 [GRCh38]
Chr4:55146939 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1558+81T>C single nucleotide variant not provided [RCV001717157] Chr4:54273811 [GRCh38]
Chr4:55139978 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2880+217A>G single nucleotide variant not provided [RCV001637349] Chr4:54289331 [GRCh38]
Chr4:55155498 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.629-68del deletion not provided [RCV001654094] Chr4:54264835 [GRCh38]
Chr4:55131002 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2674+336G>A single nucleotide variant not provided [RCV001561988] Chr4:54287877 [GRCh38]
Chr4:55154044 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-269G>A single nucleotide variant not provided [RCV001685255] Chr4:54277119 [GRCh38]
Chr4:55143286 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2674+147T>C single nucleotide variant not provided [RCV001593586] Chr4:54287688 [GRCh38]
Chr4:55153855 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2157-135A>G single nucleotide variant not provided [RCV001562875] Chr4:54280181 [GRCh38]
Chr4:55146348 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-80A>G single nucleotide variant not provided [RCV001714015] Chr4:54290233 [GRCh38]
Chr4:55156400 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.-13+156dup duplication not provided [RCV001557928] Chr4:54229560..54229561 [GRCh38]
Chr4:55095727..55095728 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-105G>C single nucleotide variant not provided [RCV001558122] Chr4:54288694 [GRCh38]
Chr4:55154861 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+154T>G single nucleotide variant not provided [RCV001656333] Chr4:54286117 [GRCh38]
Chr4:55152284 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1237+268T>C single nucleotide variant not provided [RCV001595509] Chr4:54271016 [GRCh38]
Chr4:55137183 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3123-112C>G single nucleotide variant not provided [RCV001547813] Chr4:54295013 [GRCh38]
Chr4:55161180 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1548G>C (p.Leu516=) single nucleotide variant Gastrointestinal stromal tumor [RCV000978128] Chr4:54273720 [GRCh38]
Chr4:55139887 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV000940718] Chr4:54288908 [GRCh38]
Chr4:55155075 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2349A>T (p.Ser783=) single nucleotide variant Gastrointestinal stromal tumor [RCV001502322]|Hereditary cancer-predisposing syndrome [RCV002444989] Chr4:54285396 [GRCh38]
Chr4:55151563 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2094A>G (p.Pro698=) single nucleotide variant Gastrointestinal stromal tumor [RCV001475144]|Hereditary cancer-predisposing syndrome [RCV002416166] Chr4:54278453 [GRCh38]
Chr4:55144620 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1527T>C (p.Ala509=) single nucleotide variant Gastrointestinal stromal tumor [RCV001498062] Chr4:54273699 [GRCh38]
Chr4:55139866 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1368T>C (p.Cys456=) single nucleotide variant Gastrointestinal stromal tumor [RCV000914633]|Hereditary cancer-predisposing syndrome [RCV002382075] Chr4:54273540 [GRCh38]
Chr4:55139707 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3249G>A (p.Leu1083=) single nucleotide variant Gastrointestinal stromal tumor [RCV000930450] Chr4:54295251 [GRCh38]
Chr4:55161418 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3019C>T (p.Leu1007=) single nucleotide variant Gastrointestinal stromal tumor [RCV001490575]|Hereditary cancer-predisposing syndrome [RCV003169344] Chr4:54290451 [GRCh38]
Chr4:55156618 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1602G>A (p.Leu534=) single nucleotide variant Gastrointestinal stromal tumor [RCV000979414]|Hereditary cancer-predisposing syndrome [RCV002400145] Chr4:54274574 [GRCh38]
Chr4:55140741 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1497G>C (p.Val499=) single nucleotide variant Gastrointestinal stromal tumor [RCV000930956] Chr4:54273669 [GRCh38]
Chr4:55139836 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2784C>T (p.Ile928=) single nucleotide variant Gastrointestinal stromal tumor [RCV000909949] Chr4:54289018 [GRCh38]
Chr4:55155185 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-6A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001459569] Chr4:54285835 [GRCh38]
Chr4:55152002 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1777C>T (p.Leu593=) single nucleotide variant Gastrointestinal stromal tumor [RCV000931753]|PDGFRA-related condition [RCV003960488] Chr4:54274964 [GRCh38]
Chr4:55141131 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1494C>A (p.Ala498=) single nucleotide variant Gastrointestinal stromal tumor [RCV000874628]|Hereditary cancer-predisposing syndrome [RCV002390827]|PDGFRA-related condition [RCV003895351] Chr4:54273666 [GRCh38]
Chr4:55139833 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.369C>T (p.Asp123=) single nucleotide variant Gastrointestinal stromal tumor [RCV000919391]|Hereditary cancer-predisposing syndrome [RCV002354758] Chr4:54263668 [GRCh38]
Chr4:55129835 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.21G>C (p.Ala7=) single nucleotide variant Gastrointestinal stromal tumor [RCV001425246]|Hereditary cancer-predisposing syndrome [RCV002427347] Chr4:54258789 [GRCh38]
Chr4:55124956 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3255_*8dup (p.Val1084_Ter1090=) duplication Gastrointestinal stromal tumor [RCV000870200] Chr4:54295253..54295254 [GRCh38]
Chr4:55161420..55161421 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1892-10_1892-8del deletion Gastrointestinal stromal tumor [RCV001450272] Chr4:54277884..54277886 [GRCh38]
Chr4:55144051..55144053 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+9C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001442222] Chr4:54258826 [GRCh38]
Chr4:55124993 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.888C>A (p.Thr296=) single nucleotide variant Gastrointestinal stromal tumor [RCV000938869] Chr4:54267417 [GRCh38]
Chr4:55133584 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1143G>A (p.Leu381=) single nucleotide variant Gastrointestinal stromal tumor [RCV001447073] Chr4:54270654 [GRCh38]
Chr4:55136821 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1017G>A (p.Val339=) single nucleotide variant Gastrointestinal stromal tumor [RCV000930627] Chr4:54267637 [GRCh38]
Chr4:55133804 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV000953898]|Hereditary cancer-predisposing syndrome [RCV001012155] Chr4:54274527 [GRCh38]
Chr4:55140694 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2323+7G>T single nucleotide variant Gastrointestinal stromal tumor [RCV000939306] Chr4:54280489 [GRCh38]
Chr4:55146656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.291G>A (p.Leu97=) single nucleotide variant Gastrointestinal stromal tumor [RCV000982889]|Hereditary cancer-predisposing syndrome [RCV002434366] Chr4:54261336 [GRCh38]
Chr4:55127503 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2523A>G (p.Arg841=) single nucleotide variant Gastrointestinal stromal tumor [RCV000873896]|Hereditary cancer-predisposing syndrome [RCV001015814] Chr4:54285924 [GRCh38]
Chr4:55152091 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.354C>T (p.Tyr118=) single nucleotide variant Gastrointestinal stromal tumor [RCV000951004]|Hereditary cancer-predisposing syndrome [RCV002336997] Chr4:54261399 [GRCh38]
Chr4:55127566 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1443G>A (p.Arg481=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419385]|Hereditary cancer-predisposing syndrome [RCV002390979] Chr4:54273615 [GRCh38]
Chr4:55139782 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1590A>G (p.Ala530=) single nucleotide variant Gastrointestinal stromal tumor [RCV000864943]|Hereditary cancer-predisposing syndrome [RCV002399884] Chr4:54274562 [GRCh38]
Chr4:55140729 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*1050C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001144514]|Idiopathic hypereosinophilic syndrome [RCV001144513] Chr4:54296322 [GRCh38]
Chr4:55162489 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3062C>T (p.Pro1021Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001236283] Chr4:54290494 [GRCh38]
Chr4:55156661 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-13+12G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001143948]|Idiopathic hypereosinophilic syndrome [RCV001145843] Chr4:54229427 [GRCh38]
Chr4:55095594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=) single nucleotide variant Gastrointestinal stromal tumor [RCV001144162]|Hereditary cancer-predisposing syndrome [RCV002402514]|Idiopathic hypereosinophilic syndrome [RCV001146047] Chr4:54274568 [GRCh38]
Chr4:55140735 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.*1133T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001146441]|Idiopathic hypereosinophilic syndrome [RCV001146440] Chr4:54296405 [GRCh38]
Chr4:55162572 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.244G>C (p.Val82Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001241444] Chr4:54261289 [GRCh38]
Chr4:55127456 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.686A>G (p.Glu229Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001241591] Chr4:54264976 [GRCh38]
Chr4:55131143 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2079A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001146558]|Idiopathic hypereosinophilic syndrome [RCV001146559] Chr4:54297351 [GRCh38]
Chr4:55163518 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2381A>G (p.Asp794Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001036604] Chr4:54285428 [GRCh38]
Chr4:55151595 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003G>A (p.Gly668Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001043867] Chr4:54278362 [GRCh38]
Chr4:55144529 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1369A>T (p.Asn457Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001210587]|Hereditary cancer-predisposing syndrome [RCV002379799] Chr4:54273541 [GRCh38]
Chr4:55139708 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.12:g.(?_54280306)_(54280492_?)dup duplication Gastrointestinal stromal tumor [RCV001032993] Chr4:55146473..55146659 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+3G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001066858] Chr4:54289117 [GRCh38]
Chr4:55155284 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1963T>G (p.Leu655Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001045115]|Hereditary cancer-predisposing syndrome [RCV002416365] Chr4:54277967 [GRCh38]
Chr4:55144134 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.12:g.(?_54274831)_(54295306_?)dup duplication Gastrointestinal stromal tumor [RCV001031181] Chr4:55140998..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.206T>C (p.Val69Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001045745]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473631] Chr4:54261251 [GRCh38]
Chr4:55127418 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.12:g.(?_54228182)_(54295306_?)dup duplication Gastrointestinal stromal tumor [RCV001033698] Chr4:55094349..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2121C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149324]|Idiopathic hypereosinophilic syndrome [RCV001149325] Chr4:54297393 [GRCh38]
Chr4:55163560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2142G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149327]|Idiopathic hypereosinophilic syndrome [RCV001149326] Chr4:54297414 [GRCh38]
Chr4:55163581 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1658C>G (p.Pro553Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001228037] Chr4:54274845 [GRCh38]
Chr4:55141012 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2747C>T (p.Ala916Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001048579] Chr4:54288871 [GRCh38]
Chr4:55155038 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2938A>G (p.Met980Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001231669] Chr4:54290370 [GRCh38]
Chr4:55156537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3169T>A (p.Ser1057Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001231757]|Hereditary cancer-predisposing syndrome [RCV003166413] Chr4:54295171 [GRCh38]
Chr4:55161338 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1275T>C (p.His425=) single nucleotide variant Gastrointestinal stromal tumor [RCV001455576] Chr4:54272431 [GRCh38]
Chr4:55138598 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1455G>A (p.Glu485=) single nucleotide variant Gastrointestinal stromal tumor [RCV000934652]|Hereditary cancer-predisposing syndrome [RCV002390957] Chr4:54273627 [GRCh38]
Chr4:55139794 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2265C>G (p.Ser755=) single nucleotide variant Gastrointestinal stromal tumor [RCV001397139] Chr4:54280424 [GRCh38]
Chr4:55146591 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1164C>T (p.Asp388=) single nucleotide variant Gastrointestinal stromal tumor [RCV001397570]|Hereditary cancer-predisposing syndrome [RCV003169383] Chr4:54270675 [GRCh38]
Chr4:55136842 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1197A>G (p.Glu399=) single nucleotide variant Gastrointestinal stromal tumor [RCV001433234]|Hereditary cancer-predisposing syndrome [RCV002346120] Chr4:54270708 [GRCh38]
Chr4:55136875 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.760-4G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001453398] Chr4:54267285 [GRCh38]
Chr4:55133452 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.804C>A (p.Ser268=) single nucleotide variant Gastrointestinal stromal tumor [RCV001463962]|Hereditary cancer-predisposing syndrome [RCV002416100] Chr4:54267333 [GRCh38]
Chr4:55133500 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3132C>G (p.Thr1044=) single nucleotide variant Gastrointestinal stromal tumor [RCV001494346]|Hereditary cancer-predisposing syndrome [RCV003169379] Chr4:54295134 [GRCh38]
Chr4:55161301 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3040G>T (p.Ala1014Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002771019] Chr4:54290472 [GRCh38]
Chr4:55156639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+58C>A single nucleotide variant not provided [RCV001620714] Chr4:54285544 [GRCh38]
Chr4:55151711 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV000987448]|Hereditary cancer-predisposing syndrome [RCV001022627]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473530] Chr4:54263750 [GRCh38]
Chr4:55129917 [GRCh37]
Chr4:4q12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1787-232C>A single nucleotide variant not provided [RCV001553185] Chr4:54277156 [GRCh38]
Chr4:55143323 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+35T>A single nucleotide variant not provided [RCV001560210] Chr4:54267776 [GRCh38]
Chr4:55133943 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-82T>C single nucleotide variant not provided [RCV001718142] Chr4:54278280 [GRCh38]
Chr4:55144447 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.405T>G (p.Asp135Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002549544]|Hereditary cancer-predisposing syndrome [RCV001021776] Chr4:54263704 [GRCh38]
Chr4:55129871 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.48A>G (p.Thr16=) single nucleotide variant Gastrointestinal stromal tumor [RCV001066208] Chr4:54258816 [GRCh38]
Chr4:55124983 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1831A>G (p.Thr611Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001066536] Chr4:54277432 [GRCh38]
Chr4:55143599 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1260G>A (p.Leu420=) single nucleotide variant Gastrointestinal stromal tumor [RCV001041541]|Hereditary cancer-predisposing syndrome [RCV001010597] Chr4:54272416 [GRCh38]
Chr4:55138583 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.373G>T (p.Asp125Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001873340]|Hereditary cancer-predisposing syndrome [RCV001021016] Chr4:54263672 [GRCh38]
Chr4:55129839 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+105C>A single nucleotide variant not provided [RCV001608713] Chr4:54280587 [GRCh38]
Chr4:55146754 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2157-94C>T single nucleotide variant not provided [RCV001717162] Chr4:54280222 [GRCh38]
Chr4:55146389 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1787-234C>T single nucleotide variant not provided [RCV001717159] Chr4:54277154 [GRCh38]
Chr4:55143321 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2003-117_2003-109del deletion not provided [RCV001596342] Chr4:54278224..54278232 [GRCh38]
Chr4:55144391..55144399 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-119_2003-109del deletion not provided [RCV001694817] Chr4:54278224..54278234 [GRCh38]
Chr4:55144391..55144401 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2439+162C>T single nucleotide variant not provided [RCV001689178] Chr4:54285648 [GRCh38]
Chr4:55151815 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.490A>G (p.Ser164Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001226999]|Hereditary cancer-predisposing syndrome [RCV001023248] Chr4:54263789 [GRCh38]
Chr4:55129956 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.186T>C (p.Ser62=) single nucleotide variant Gastrointestinal stromal tumor [RCV001424523]|Hereditary cancer-predisposing syndrome [RCV001013409] Chr4:54261231 [GRCh38]
Chr4:55127398 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-3A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001217929] Chr4:54270630 [GRCh38]
Chr4:55136797 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*998C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001144510]|Idiopathic hypereosinophilic syndrome [RCV001144509] Chr4:54296270 [GRCh38]
Chr4:55162437 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2064G>A (p.Lys688=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014218] Chr4:54278423 [GRCh38]
Chr4:55144590 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2113C>G (p.Leu705Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014506] Chr4:54278472 [GRCh38]
Chr4:55144639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*791A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001150607]|Idiopathic hypereosinophilic syndrome [RCV001150608] Chr4:54296063 [GRCh38]
Chr4:55162230 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2278T>C (p.Ser760Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001062983]|Hereditary cancer-predisposing syndrome [RCV001015032] Chr4:54280437 [GRCh38]
Chr4:55146604 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1039A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001144511]|Idiopathic hypereosinophilic syndrome [RCV001144512] Chr4:54296311 [GRCh38]
Chr4:55162478 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1778C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001150724]|Idiopathic hypereosinophilic syndrome [RCV001150723] Chr4:54297050 [GRCh38]
Chr4:55163217 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2397C>T (p.Thr799=) single nucleotide variant Gastrointestinal stromal tumor [RCV001438726]|Hereditary cancer-predisposing syndrome [RCV001015401] Chr4:54285444 [GRCh38]
Chr4:55151611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2531T>C (p.Met844Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001860805]|Hereditary cancer-predisposing syndrome [RCV001015862] Chr4:54285932 [GRCh38]
Chr4:55152099 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1356T>C (p.Asp452=) single nucleotide variant Gastrointestinal stromal tumor [RCV001392373]|Hereditary cancer-predisposing syndrome [RCV001011152] Chr4:54272512 [GRCh38]
Chr4:55138679 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.153_165del (p.Glu52fs) deletion Hereditary cancer-predisposing syndrome [RCV001012031] Chr4:54261197..54261209 [GRCh38]
Chr4:55127364..55127376 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1678A>T (p.Arg560Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV001224074] Chr4:54274865 [GRCh38]
Chr4:55141032 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558+119T>C single nucleotide variant not provided [RCV001714609] Chr4:54273849 [GRCh38]
Chr4:55140016 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.689C>T (p.Thr230Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001034949]|Hereditary cancer-predisposing syndrome [RCV002363548] Chr4:54264979 [GRCh38]
Chr4:55131146 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-118_2003-109del deletion not provided [RCV001645765] Chr4:54278224..54278233 [GRCh38]
Chr4:55144391..55144400 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.628+60G>A single nucleotide variant not provided [RCV001694363] Chr4:54263987 [GRCh38]
Chr4:55130154 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2003-116A>C single nucleotide variant not provided [RCV001680630] Chr4:54278246 [GRCh38]
Chr4:55144413 [GRCh37]
Chr4:4q12		 benign
NC_000004.11:g.(?_55094349)_(55604723_?)dup duplication Gastrointestinal stromal tumor [RCV001033072] Chr4:55094349..55604723 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.12:g.(?_54258759)_(54658091_?)dup duplication Gastrointestinal stromal tumor [RCV001033167] Chr4:55124926..55524258 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.149T>C (p.Phe50Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001049811] Chr4:54261194 [GRCh38]
Chr4:55127361 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+287del deletion not provided [RCV001533983] Chr4:54280769 [GRCh38]
Chr4:55146936 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+144C>T single nucleotide variant not provided [RCV001678986] Chr4:54290698 [GRCh38]
Chr4:55156865 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.629-69_629-68del deletion not provided [RCV001646051] Chr4:54264835..54264836 [GRCh38]
Chr4:55131002..55131003 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.760-204T>C single nucleotide variant not provided [RCV001681337] Chr4:54267085 [GRCh38]
Chr4:55133252 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.-12-333A>G single nucleotide variant not provided [RCV001671939] Chr4:54258424 [GRCh38]
Chr4:55124591 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3167G>A (p.Ser1056Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003638734]|Hereditary cancer-predisposing syndrome [RCV001018894] Chr4:54295169 [GRCh38]
Chr4:55161336 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558+134T>G single nucleotide variant not provided [RCV001537231] Chr4:54273864 [GRCh38]
Chr4:55140031 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1122-66C>T single nucleotide variant not provided [RCV001665209] Chr4:54270567 [GRCh38]
Chr4:55136734 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2157-77_2157-76insTGTAGGTCCCCCAG insertion not provided [RCV001692947] Chr4:54280239..54280240 [GRCh38]
Chr4:55146406..55146407 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2941C>G (p.Arg981Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001048711] Chr4:54290373 [GRCh38]
Chr4:55156540 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3258C>G (p.Asp1086Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001046285]|Hereditary cancer-predisposing syndrome [RCV002320265] Chr4:54295260 [GRCh38]
Chr4:55161427 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2465A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001145021]|Idiopathic hypereosinophilic syndrome [RCV001145022] Chr4:54297737 [GRCh38]
Chr4:55163904 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.821C>G (p.Thr274Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001046317] Chr4:54267350 [GRCh38]
Chr4:55133517 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.47C>T (p.Thr16Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001216274] Chr4:54258815 [GRCh38]
Chr4:55124982 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1863C>T (p.Val621=) single nucleotide variant Gastrointestinal stromal tumor [RCV002068871]|Hereditary cancer-predisposing syndrome [RCV001013440] Chr4:54277464 [GRCh38]
Chr4:55143631 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=) single nucleotide variant Gastrointestinal stromal tumor [RCV001150194]|Idiopathic hypereosinophilic syndrome [RCV001148613] Chr4:54263779 [GRCh38]
Chr4:55129946 [GRCh37]
Chr4:4q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1160A>G (p.Glu387Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001226563] Chr4:54270671 [GRCh38]
Chr4:55136838 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2312A>C (p.Lys771Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001056042] Chr4:54280471 [GRCh38]
Chr4:55146638 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1964T>G (p.Leu655Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV001059887] Chr4:54277968 [GRCh38]
Chr4:55144135 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.253T>A (p.Leu85Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001060047] Chr4:54261298 [GRCh38]
Chr4:55127465 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.80T>C (p.Leu27Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027180] Chr4:54261125 [GRCh38]
Chr4:55127292 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001062114]|Hereditary cancer-predisposing syndrome [RCV001014053] Chr4:54278010 [GRCh38]
Chr4:55144177 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1486A>G (p.Thr496Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001214853]|Hereditary cancer-predisposing syndrome [RCV003294034] Chr4:54273658 [GRCh38]
Chr4:55139825 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2184T>G (p.Asn728Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001215147] Chr4:54280343 [GRCh38]
Chr4:55146510 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001234528] Chr4:54278519 [GRCh38]
Chr4:55144686 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880G>T (p.Lys960Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001236227] Chr4:54289114 [GRCh38]
Chr4:55155281 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1544A>G (p.Lys515Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001056176]|Hereditary cancer-predisposing syndrome [RCV002400319] Chr4:54273716 [GRCh38]
Chr4:55139883 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2128T>G (p.Leu710Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001056191] Chr4:54278487 [GRCh38]
Chr4:55144654 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.945T>G (p.Ile315Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001231509] Chr4:54267565 [GRCh38]
Chr4:55133732 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.151G>C (p.Gly51Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001056308] Chr4:54261196 [GRCh38]
Chr4:55127363 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+3G>C single nucleotide variant Gastrointestinal stromal tumor [RCV001232494] Chr4:54278518 [GRCh38]
Chr4:55144685 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1145T>C (p.Ile382Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001232621] Chr4:54270656 [GRCh38]
Chr4:55136823 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1769G>C (p.Arg590Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001235185] Chr4:54274956 [GRCh38]
Chr4:55141123 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3215T>C (p.Met1072Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001240985]|Hereditary cancer-predisposing syndrome [RCV002322145] Chr4:54295217 [GRCh38]
Chr4:55161384 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.40C>T (p.Leu14Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001061222]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473678] Chr4:54258808 [GRCh38]
Chr4:55124975 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001150374]|Idiopathic hypereosinophilic syndrome [RCV001150373] Chr4:54278002 [GRCh38]
Chr4:55144169 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2618C>A (p.Thr873Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001202160] Chr4:54287485 [GRCh38]
Chr4:55153652 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2212G>C (p.Asp738His) single nucleotide variant Gastrointestinal stromal tumor [RCV001039438] Chr4:54280371 [GRCh38]
Chr4:55146538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932A>C (p.Glu311Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001039452] Chr4:54267552 [GRCh38]
Chr4:55133719 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1065_1066delinsGG (p.Leu356Val) indel Gastrointestinal stromal tumor [RCV001061552] Chr4:54267685..54267686 [GRCh38]
Chr4:55133852..55133853 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1281A>T (p.Ser427=) single nucleotide variant Gastrointestinal stromal tumor [RCV001480708]|Hereditary cancer-predisposing syndrome [RCV001010729] Chr4:54272437 [GRCh38]
Chr4:55138604 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1287G>T (p.Gly429=) single nucleotide variant Gastrointestinal stromal tumor [RCV001459803]|Hereditary cancer-predisposing syndrome [RCV001010771] Chr4:54272443 [GRCh38]
Chr4:55138610 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1196A>C (p.Glu399Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001241175] Chr4:54270707 [GRCh38]
Chr4:55136874 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1036A>G (p.Arg346Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001211329]|Hereditary cancer-predisposing syndrome [RCV002393483] Chr4:54267656 [GRCh38]
Chr4:55133823 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1175A>T (p.Tyr392Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001058029]|Hereditary cancer-predisposing syndrome [RCV003307886] Chr4:54270686 [GRCh38]
Chr4:55136853 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.646C>A (p.Leu216Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001242277]|Hereditary cancer-predisposing syndrome [RCV002357034] Chr4:54264936 [GRCh38]
Chr4:55131103 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.302A>G (p.Tyr101Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001243343] Chr4:54261347 [GRCh38]
Chr4:55127514 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2074A>G (p.Ser692Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001202617] Chr4:54278433 [GRCh38]
Chr4:55144600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1094C>T (p.Thr365Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001036996]|Hereditary cancer-predisposing syndrome [RCV003307809] Chr4:54267714 [GRCh38]
Chr4:55133881 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2677G>T (p.Gly893Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001037245] Chr4:54288801 [GRCh38]
Chr4:55154968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1679G>T (p.Arg560Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001054065]|Hereditary cancer-predisposing syndrome [RCV003307871] Chr4:54274866 [GRCh38]
Chr4:55141033 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*374A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001146295]|Idiopathic hypereosinophilic syndrome [RCV001146294] Chr4:54295646 [GRCh38]
Chr4:55161813 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.112G>C (p.Val38Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001244930]|Hereditary cancer-predisposing syndrome [RCV002322159] Chr4:54261157 [GRCh38]
Chr4:55127324 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3216G>T (p.Met1072Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001047540] Chr4:54295218 [GRCh38]
Chr4:55161385 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1249C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001146444]|Idiopathic hypereosinophilic syndrome [RCV001149217] Chr4:54296521 [GRCh38]
Chr4:55162688 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.4G>A (p.Gly2Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001047724] Chr4:54258772 [GRCh38]
Chr4:55124939 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1338G>T (p.Glu446Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001040205] Chr4:54272494 [GRCh38]
Chr4:55138661 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+5G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001040334] Chr4:54289119 [GRCh38]
Chr4:55155286 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001873388]|Hereditary cancer-predisposing syndrome [RCV001024931]|not provided [RCV002281149] Chr4:54263912 [GRCh38]
Chr4:55130079 [GRCh37]
Chr4:4q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006206.6(PDGFRA):c.1610T>C (p.Ile537Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001247841]|Hereditary cancer-predisposing syndrome [RCV002402789] Chr4:54274582 [GRCh38]
Chr4:55140749 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1640T>C (p.Val547Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001217880]|Hereditary cancer-predisposing syndrome [RCV001012535] Chr4:54274612 [GRCh38]
Chr4:55140779 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2281C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001147781]|Idiopathic hypereosinophilic syndrome [RCV001147782] Chr4:54297553 [GRCh38]
Chr4:55163720 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2655A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001147875]|Idiopathic hypereosinophilic syndrome [RCV001147876] Chr4:54297927 [GRCh38]
Chr4:55164094 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1597G>A (p.Val533Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001226042]|Hereditary cancer-predisposing syndrome [RCV002402708] Chr4:54274569 [GRCh38]
Chr4:55140736 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2878A>G (p.Lys960Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001218871]|Hereditary cancer-predisposing syndrome [RCV003163680] Chr4:54289112 [GRCh38]
Chr4:55155279 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2379G>T (p.Leu793Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001220270] Chr4:54285426 [GRCh38]
Chr4:55151593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2324A>G (p.Asp775Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001220810]|Hereditary cancer-predisposing syndrome [RCV002447109] Chr4:54285371 [GRCh38]
Chr4:55151538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.355A>C (p.Ile119Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001226911]|Hereditary cancer-predisposing syndrome [RCV002339618] Chr4:54261400 [GRCh38]
Chr4:55127567 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2152C>G (p.Arg718Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001227371] Chr4:54278511 [GRCh38]
Chr4:55144678 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2376A>T (p.Leu792Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001070466] Chr4:54285423 [GRCh38]
Chr4:55151590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2T>G (p.Met1Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001040922] Chr4:54258770 [GRCh38]
Chr4:55124937 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.348C>A (p.His116Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001041110]|Hereditary cancer-predisposing syndrome [RCV003160271] Chr4:54261393 [GRCh38]
Chr4:55127560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2291G>T (p.Arg764Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001059409] Chr4:54280450 [GRCh38]
Chr4:55146617 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1585G>T (p.Ala529Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001248499]|Hereditary cancer-predisposing syndrome [RCV002402792] Chr4:54274557 [GRCh38]
Chr4:55140724 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2552C>T (p.Ser851Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001205223] Chr4:54285953 [GRCh38]
Chr4:55152120 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.152G>C (p.Gly51Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001221883] Chr4:54261197 [GRCh38]
Chr4:55127364 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.719A>G (p.Asn240Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001222873] Chr4:54265009 [GRCh38]
Chr4:55131176 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1431_1432delinsGC (p.His477_Ser478delinsGlnPro) indel Gastrointestinal stromal tumor [RCV001208958] Chr4:54273603..54273604 [GRCh38]
Chr4:55139770..55139771 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3100C>G (p.Leu1034Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001231211]|Hereditary cancer-predisposing syndrome [RCV003373062] Chr4:54290532 [GRCh38]
Chr4:55156699 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.295A>G (p.Thr99Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001041203]|Hereditary cancer-predisposing syndrome [RCV003160272] Chr4:54261340 [GRCh38]
Chr4:55127507 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1508C>A (p.Ala503Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001059743] Chr4:54273680 [GRCh38]
Chr4:55139847 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.752G>C (p.Gly251Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001229627]|Hereditary cancer-predisposing syndrome [RCV001026528] Chr4:54265042 [GRCh38]
Chr4:55131209 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2435A>G (p.Lys812Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001049268]|Hereditary cancer-predisposing syndrome [RCV002451200] Chr4:54285482 [GRCh38]
Chr4:55151649 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1696A>G (p.Ser566Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001221362]|Hereditary cancer-predisposing syndrome [RCV003163702] Chr4:54274883 [GRCh38]
Chr4:55141050 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2000C>T (p.Ser667Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001221823] Chr4:54278004 [GRCh38]
Chr4:55144171 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2936G>T (p.Arg979Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001232747] Chr4:54290368 [GRCh38]
Chr4:55156535 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter) single nucleotide variant Idiopathic hypereosinophilic syndrome [RCV001198581] Chr4:54280380 [GRCh38]
Chr4:55146547 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1546C>G (p.Leu516Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001064259]|Hereditary cancer-predisposing syndrome [RCV002402448]|not provided [RCV003442190] Chr4:54273718 [GRCh38]
Chr4:55139885 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1647G>A (p.Trp549Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001064265] Chr4:54274619 [GRCh38]
Chr4:55140786 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1498C>T (p.Arg500Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001064271] Chr4:54273670 [GRCh38]
Chr4:55139837 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2773G>A (p.Val925Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001054470]|Hereditary cancer-predisposing syndrome [RCV002436615] Chr4:54288897 [GRCh38]
Chr4:55155064 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2833C>G (p.His945Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001064591]|Hereditary cancer-predisposing syndrome [RCV003160531] Chr4:54289067 [GRCh38]
Chr4:55155234 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-4A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023392] Chr4:54258765 [GRCh38]
Chr4:55124932 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.307A>C (p.Asn103His) single nucleotide variant Gastrointestinal stromal tumor [RCV001236976] Chr4:54261352 [GRCh38]
Chr4:55127519 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932A>T (p.Glu311Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001224915] Chr4:54267552 [GRCh38]
Chr4:55133719 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2937C>T (p.Arg979=) single nucleotide variant Gastrointestinal stromal tumor [RCV001064737]|Hereditary cancer-predisposing syndrome [RCV002436656] Chr4:54290369 [GRCh38]
Chr4:55156536 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1510A>G (p.Lys504Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001050568]|Hereditary cancer-predisposing syndrome [RCV003307854] Chr4:54273682 [GRCh38]
Chr4:55139849 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.919A>G (p.Ile307Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001050570] Chr4:54267448 [GRCh38]
Chr4:55133615 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001054746]|Hereditary cancer-predisposing syndrome [RCV002259074] Chr4:54278012 [GRCh38]
Chr4:55144179 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2792A>G (p.Lys931Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001040635] Chr4:54289026 [GRCh38]
Chr4:55155193 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2325C>T (p.Asp775=) single nucleotide variant Gastrointestinal stromal tumor [RCV001499362]|Hereditary cancer-predisposing syndrome [RCV001015193] Chr4:54285372 [GRCh38]
Chr4:55151539 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.206T>A (p.Val69Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001239761] Chr4:54261251 [GRCh38]
Chr4:55127418 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001146048]|Idiopathic hypereosinophilic syndrome [RCV001148846] Chr4:54274971 [GRCh38]
Chr4:55141138 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2119A>G (p.Ile707Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001203634]|Ovarian cancer [RCV003153942] Chr4:54278478 [GRCh38]
Chr4:55144645 [GRCh37]
Chr4:4q12		 likely pathogenic|uncertain significance
NM_006206.6(PDGFRA):c.2385G>A (p.Leu795=) single nucleotide variant Gastrointestinal stromal tumor [RCV002068905]|Hereditary cancer-predisposing syndrome [RCV001015357] Chr4:54285432 [GRCh38]
Chr4:55151599 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2204_2205insAT (p.Gln736fs) insertion Gastrointestinal stromal tumor [RCV001241654] Chr4:54280363..54280364 [GRCh38]
Chr4:55146530..55146531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2197G>T (p.Asp733Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001247118] Chr4:54280356 [GRCh38]
Chr4:55146523 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2508C>T (p.Asp836=) single nucleotide variant Gastrointestinal stromal tumor [RCV002549427]|Hereditary cancer-predisposing syndrome [RCV001015763] Chr4:54285909 [GRCh38]
Chr4:55152076 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2642A>T (p.Tyr881Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016190] Chr4:54287509 [GRCh38]
Chr4:55153676 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1902A>C (p.Arg634Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001201899]|Hereditary cancer-predisposing syndrome [RCV003163515] Chr4:54277906 [GRCh38]
Chr4:55144073 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1514A>G (p.Asn505Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001243828] Chr4:54273686 [GRCh38]
Chr4:55139853 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.44T>C (p.Leu15Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001244945]|Hereditary cancer-predisposing syndrome [RCV002327595] Chr4:54258812 [GRCh38]
Chr4:55124979 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2546A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001146969]|Idiopathic hypereosinophilic syndrome [RCV001147874] Chr4:54297818 [GRCh38]
Chr4:55163985 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.1111C>G (p.Gln371Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001246023] Chr4:54267731 [GRCh38]
Chr4:55133898 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-7T>A single nucleotide variant Gastrointestinal stromal tumor [RCV001051720] Chr4:54290306 [GRCh38]
Chr4:55156473 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2332G>T (p.Val778Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001055838] Chr4:54285379 [GRCh38]
Chr4:55151546 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1969A>G (p.Ile657Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001208947] Chr4:54277973 [GRCh38]
Chr4:55144140 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2910G>C (p.Leu970=) single nucleotide variant Gastrointestinal stromal tumor [RCV001423554]|Hereditary cancer-predisposing syndrome [RCV001016939] Chr4:54290342 [GRCh38]
Chr4:55156509 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2958T>G (p.Asn986Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001217889]|Hereditary cancer-predisposing syndrome [RCV002436836] Chr4:54290390 [GRCh38]
Chr4:55156557 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.269C>G (p.Ala90Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001218086] Chr4:54261314 [GRCh38]
Chr4:55127481 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.158G>A (p.Ser53Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001218720] Chr4:54261203 [GRCh38]
Chr4:55127370 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1427T>A (p.Ile476Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001056281] Chr4:54273599 [GRCh38]
Chr4:55139766 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1334G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149218]|Idiopathic hypereosinophilic syndrome [RCV001149219] Chr4:54296606 [GRCh38]
Chr4:55162773 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2930T>G (p.Val977Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001207455]|Hereditary cancer-predisposing syndrome [RCV001017529] Chr4:54290362 [GRCh38]
Chr4:55156529 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3085C>T (p.Pro1029Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001219132] Chr4:54290517 [GRCh38]
Chr4:55156684 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.278C>T (p.Ala93Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001041983]|Hereditary cancer-predisposing syndrome [RCV003160280] Chr4:54261323 [GRCh38]
Chr4:55127490 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.724G>A (p.Val242Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001215589] Chr4:54265014 [GRCh38]
Chr4:55131181 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.970T>G (p.Leu324Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001062638] Chr4:54267590 [GRCh38]
Chr4:55133757 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.210A>C (p.Glu70Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001062674] Chr4:54261255 [GRCh38]
Chr4:55127422 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3250del (p.Val1084fs) deletion Gastrointestinal stromal tumor [RCV001062703] Chr4:54295251 [GRCh38]
Chr4:55161418 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2186G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001149328]|Idiopathic hypereosinophilic syndrome [RCV001149329] Chr4:54297458 [GRCh38]
Chr4:55163625 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*2873C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001149416]|Idiopathic hypereosinophilic syndrome [RCV001149415] Chr4:54298145 [GRCh38]
Chr4:55164312 [GRCh37]
Chr4:4q12		 benign|likely benign
NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001309728]|Hereditary cancer-predisposing syndrome [RCV001017795]|Idiopathic hypereosinophilic syndrome [RCV003485675] Chr4:54290418 [GRCh38]
Chr4:55156585 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.860A>G (p.Asp287Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001228713]|Hereditary cancer-predisposing syndrome [RCV003163781] Chr4:54267389 [GRCh38]
Chr4:55133556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2251G>T (p.Val751Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001056648] Chr4:54280410 [GRCh38]
Chr4:55146577 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629-5T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025096] Chr4:54264914 [GRCh38]
Chr4:55131081 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1486A>C (p.Thr496Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001052218]|Hereditary cancer-predisposing syndrome [RCV001011820] Chr4:54273658 [GRCh38]
Chr4:55139825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.670G>T (p.Val224Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001038122] Chr4:54264960 [GRCh38]
Chr4:55131127 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.295A>T (p.Thr99Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001038770] Chr4:54261340 [GRCh38]
Chr4:55127507 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2284dup (p.Tyr762fs) duplication Gastrointestinal stromal tumor [RCV001056964] Chr4:54280442..54280443 [GRCh38]
Chr4:55146609..55146610 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2795G>A (p.Cys932Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001056987] Chr4:54289029 [GRCh38]
Chr4:55155196 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3129G>T (p.Gln1043His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018747] Chr4:54295131 [GRCh38]
Chr4:55161298 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1717A>G (p.Ile573Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001048571]|Hereditary cancer-predisposing syndrome [RCV002400276] Chr4:54274904 [GRCh38]
Chr4:55141071 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2105A>G (p.Lys702Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001063274] Chr4:54278464 [GRCh38]
Chr4:55144631 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.346C>T (p.His116Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001221451] Chr4:54261391 [GRCh38]
Chr4:55127558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.437C>T (p.Ala146Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001034956] Chr4:54263736 [GRCh38]
Chr4:55129903 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1331A>G (p.Asp444Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001053600] Chr4:54272487 [GRCh38]
Chr4:55138654 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.417C>G (p.Ile139Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001220090] Chr4:54263716 [GRCh38]
Chr4:55129883 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1157A>G (p.Glu386Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001220204] Chr4:54270668 [GRCh38]
Chr4:55136835 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775-9T>A single nucleotide variant Gastrointestinal stromal tumor [RCV001221151] Chr4:54289000 [GRCh38]
Chr4:55155167 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.842C>A (p.Thr281Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001063670] Chr4:54267371 [GRCh38]
Chr4:55133538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2440-50_2440-49insA insertion Squamous cell lung carcinoma [RCV001250969]|not provided [RCV001696229] Chr4:54285791..54285792 [GRCh38]
Chr4:55151958..55151959 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.2334C>A (p.Val778=) single nucleotide variant Gastrointestinal stromal tumor [RCV001483284] Chr4:54285381 [GRCh38]
Chr4:55151548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.928C>T (p.His310Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001313556] Chr4:54267457 [GRCh38]
Chr4:55133624 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.311A>G (p.His104Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001350036] Chr4:54261356 [GRCh38]
Chr4:55127523 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1811T>C (p.Phe604Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001349754] Chr4:54277412 [GRCh38]
Chr4:55143579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1217C>T (p.Thr406Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001312756]|Hereditary cancer-predisposing syndrome [RCV002357124] Chr4:54270728 [GRCh38]
Chr4:55136895 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1704T>G (p.Asp568Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001313021] Chr4:54274891 [GRCh38]
Chr4:55141058 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1679G>A (p.Arg560Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001294428]|Hereditary cancer-predisposing syndrome [RCV002402816] Chr4:54274866 [GRCh38]
Chr4:55141033 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.733C>A (p.Leu245Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001349580] Chr4:54265023 [GRCh38]
Chr4:55131190 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2992G>A (p.Asp998Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002001204]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475271] Chr4:54290424 [GRCh38]
Chr4:55156591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3222_3223delinsCC (p.Asp1075His) indel Gastrointestinal stromal tumor [RCV002001737] Chr4:54295224..54295225 [GRCh38]
Chr4:55161391..55161392 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-158A>G single nucleotide variant not provided [RCV001565484] Chr4:54277738 [GRCh38]
Chr4:55143905 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.265A>G (p.Ser89Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002002912] Chr4:54261310 [GRCh38]
Chr4:55127477 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1729C>A (p.Pro577Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002003426]|Hereditary cancer-predisposing syndrome [RCV002398060] Chr4:54274916 [GRCh38]
Chr4:55141083 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1333A>G (p.Ile445Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002004452] Chr4:54272489 [GRCh38]
Chr4:55138656 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.241T>G (p.Phe81Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001298410] Chr4:54261286 [GRCh38]
Chr4:55127453 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3237C>A (p.Asp1079Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001318939]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473858] Chr4:54295239 [GRCh38]
Chr4:55161406 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.259G>A (p.Val87Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001352491] Chr4:54261304 [GRCh38]
Chr4:55127471 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1264G>C (p.Asp422His) single nucleotide variant Gastrointestinal stromal tumor [RCV001327082] Chr4:54272420 [GRCh38]
Chr4:55138587 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3221_3222delinsCC (p.Asp1074Ala) indel Gastrointestinal stromal tumor [RCV001324919] Chr4:54295223..54295224 [GRCh38]
Chr4:55161390..55161391 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124926)_(55151663_?)dup duplication Gastrointestinal stromal tumor [RCV001314369] Chr4:55124926..55151663 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.424G>A (p.Asp142Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001317585] Chr4:54263723 [GRCh38]
Chr4:55129890 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1015G>A (p.Val339Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001307880] Chr4:54267635 [GRCh38]
Chr4:55133802 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1237+3A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001314604] Chr4:54270751 [GRCh38]
Chr4:55136918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2792A>C (p.Lys931Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001339172] Chr4:54289026 [GRCh38]
Chr4:55155193 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.653T>C (p.Met218Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001298557] Chr4:54264943 [GRCh38]
Chr4:55131110 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1519C>T (p.Leu507Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001338652] Chr4:54273691 [GRCh38]
Chr4:55139858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.685G>C (p.Glu229Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001299279]|Hereditary cancer-predisposing syndrome [RCV002366130] Chr4:54264975 [GRCh38]
Chr4:55131142 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1622C>T (p.Ser541Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001308854] Chr4:54274594 [GRCh38]
Chr4:55140761 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2410del (p.Arg804fs) deletion Gastrointestinal stromal tumor [RCV001336925] Chr4:54285455 [GRCh38]
Chr4:55151622 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.1331A>T (p.Asp444Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001307497] Chr4:54272487 [GRCh38]
Chr4:55138654 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2992G>C (p.Asp998His) single nucleotide variant Gastrointestinal stromal tumor [RCV001325523] Chr4:54290424 [GRCh38]
Chr4:55156591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.541A>T (p.Thr181Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001298400] Chr4:54263840 [GRCh38]
Chr4:55130007 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629-3T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001317922] Chr4:54264916 [GRCh38]
Chr4:55131083 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3041C>T (p.Ala1014Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001317940] Chr4:54290473 [GRCh38]
Chr4:55156640 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2902G>A (p.Asp968Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001304120]|Hereditary cancer-predisposing syndrome [RCV002437031] Chr4:54290334 [GRCh38]
Chr4:55156501 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.244G>T (p.Val82Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001314998] Chr4:54261289 [GRCh38]
Chr4:55127456 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.113T>C (p.Val38Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001350350] Chr4:54261158 [GRCh38]
Chr4:55127325 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2196G>A (p.Met732Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001299521] Chr4:54280355 [GRCh38]
Chr4:55146522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2969G>T (p.Gly990Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001349926] Chr4:54290401 [GRCh38]
Chr4:55156568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.883G>T (p.Ala295Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001349933] Chr4:54267412 [GRCh38]
Chr4:55133579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1772A>G (p.Asp591Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001318815] Chr4:54274959 [GRCh38]
Chr4:55141126 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1866G>A (p.Met622Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001324500] Chr4:54277467 [GRCh38]
Chr4:55143634 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1694T>C (p.Ile565Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001304013] Chr4:54274881 [GRCh38]
Chr4:55141048 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.984C>A (p.Asn328Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001315474] Chr4:54267604 [GRCh38]
Chr4:55133771 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.768dup (p.Gly257fs) duplication Gastrointestinal stromal tumor [RCV001324540] Chr4:54267294..54267295 [GRCh38]
Chr4:55133461..55133462 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.374A>C (p.Asp125Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001297084]|Hereditary cancer-predisposing syndrome [RCV002366124] Chr4:54263673 [GRCh38]
Chr4:55129840 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.796G>A (p.Val266Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001319500] Chr4:54267325 [GRCh38]
Chr4:55133492 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3173C>T (p.Thr1058Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001324528] Chr4:54295175 [GRCh38]
Chr4:55161342 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-3T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001351953] Chr4:54290310 [GRCh38]
Chr4:55156477 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1303T>C (p.Cys435Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001352018] Chr4:54272459 [GRCh38]
Chr4:55138626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1612G>T (p.Val538Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001361269] Chr4:54274584 [GRCh38]
Chr4:55140751 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-7T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001396592] Chr4:54273530 [GRCh38]
Chr4:55139697 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2358C>T (p.Asn786=) single nucleotide variant Gastrointestinal stromal tumor [RCV001414991]|Hereditary cancer-predisposing syndrome [RCV003160663] Chr4:54285405 [GRCh38]
Chr4:55151572 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1322C>A (p.Pro441Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001297433] Chr4:54272478 [GRCh38]
Chr4:55138645 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2067T>C (p.Asn689=) single nucleotide variant Gastrointestinal stromal tumor [RCV001394688] Chr4:54278426 [GRCh38]
Chr4:55144593 [GRCh37]
Chr4:4q12		 likely benign
NC_000004.11:g.(?_55094349)_(55161473_?)dup duplication Gastrointestinal stromal tumor [RCV001314368] Chr4:55094349..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1792G>A (p.Val598Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001338324]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473865] Chr4:54277393 [GRCh38]
Chr4:55143560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1090A>G (p.Thr364Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001338403] Chr4:54267710 [GRCh38]
Chr4:55133877 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2380_2385del (p.Asp794_Leu795del) deletion Gastrointestinal stromal tumor [RCV001372650] Chr4:54285424..54285429 [GRCh38]
Chr4:55151591..55151596 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.633A>G (p.Thr211=) single nucleotide variant Gastrointestinal stromal tumor [RCV001363308]|Hereditary cancer-predisposing syndrome [RCV002357237] Chr4:54264923 [GRCh38]
Chr4:55131090 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2926G>C (p.Ala976Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001374247] Chr4:54290358 [GRCh38]
Chr4:55156525 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2276G>C (p.Arg759Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001314589] Chr4:54280435 [GRCh38]
Chr4:55146602 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1335T>C (p.Ile445=) single nucleotide variant Gastrointestinal stromal tumor [RCV001395159] Chr4:54272491 [GRCh38]
Chr4:55138658 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+5A>C single nucleotide variant Gastrointestinal stromal tumor [RCV001368718] Chr4:54267465 [GRCh38]
Chr4:55133632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2664C>A (p.Ile888=) single nucleotide variant Gastrointestinal stromal tumor [RCV001395479] Chr4:54287531 [GRCh38]
Chr4:55153698 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2457G>T (p.Leu819=) single nucleotide variant Gastrointestinal stromal tumor [RCV001422615] Chr4:54285858 [GRCh38]
Chr4:55152025 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1892-7T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001391997] Chr4:54277889 [GRCh38]
Chr4:55144056 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+9G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001414588] Chr4:54290563 [GRCh38]
Chr4:55156730 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2980A>T (p.Lys994Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001307675] Chr4:54290412 [GRCh38]
Chr4:55156579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2945T>C (p.Val982Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001358849] Chr4:54290377 [GRCh38]
Chr4:55156544 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2835C>T (p.His945=) single nucleotide variant Gastrointestinal stromal tumor [RCV001421357] Chr4:54289069 [GRCh38]
Chr4:55155236 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.984C>T (p.Asn328=) single nucleotide variant Gastrointestinal stromal tumor [RCV001421653]|Hereditary cancer-predisposing syndrome [RCV003365388] Chr4:54267604 [GRCh38]
Chr4:55133771 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.512C>T (p.Ser171Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001371001]|Hereditary cancer-predisposing syndrome [RCV002350712] Chr4:54263811 [GRCh38]
Chr4:55129978 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.949A>G (p.Ile317Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001370295]|Hereditary cancer-predisposing syndrome [RCV003169901] Chr4:54267569 [GRCh38]
Chr4:55133736 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.682G>A (p.Gly228Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001294464] Chr4:54264972 [GRCh38]
Chr4:55131139 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.465C>A (p.Pro155=) single nucleotide variant Gastrointestinal stromal tumor [RCV001370536] Chr4:54263764 [GRCh38]
Chr4:55129931 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1009G>A (p.Val337Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001296571]|Hereditary cancer-predisposing syndrome [RCV002430086] Chr4:54267629 [GRCh38]
Chr4:55133796 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2112G>T (p.Glu704Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001362642] Chr4:54278471 [GRCh38]
Chr4:55144638 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2747C>A (p.Ala916Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001373624]|Hereditary cancer-predisposing syndrome [RCV002438878] Chr4:54288871 [GRCh38]
Chr4:55155038 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001423146] Chr4:54278014 [GRCh38]
Chr4:55144181 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1330G>A (p.Asp444Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001371905] Chr4:54272486 [GRCh38]
Chr4:55138653 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3110G>A (p.Arg1037Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001362155] Chr4:54290542 [GRCh38]
Chr4:55156709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1369A>G (p.Asn457Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001296870] Chr4:54273541 [GRCh38]
Chr4:55139708 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1749C>A (p.Asp583Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001373216] Chr4:54274936 [GRCh38]
Chr4:55141103 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3266T>G (p.Leu1089Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001373861] Chr4:54295268 [GRCh38]
Chr4:55161435 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.976G>A (p.Ala326Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001341887] Chr4:54267596 [GRCh38]
Chr4:55133763 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1038G>T (p.Arg346Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001321404] Chr4:54267658 [GRCh38]
Chr4:55133825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1474A>C (p.Lys492Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001345636] Chr4:54273646 [GRCh38]
Chr4:55139813 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364A>T (p.Lys455Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001345660]|Hereditary cancer-predisposing syndrome [RCV002384476] Chr4:54272520 [GRCh38]
Chr4:55138687 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.283A>G (p.Thr95Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001368912] Chr4:54261328 [GRCh38]
Chr4:55127495 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1279T>C (p.Ser427Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001312295] Chr4:54272435 [GRCh38]
Chr4:55138602 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2768G>A (p.Ser923Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001303208] Chr4:54288892 [GRCh38]
Chr4:55155059 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.774C>G (p.Ile258Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001299063] Chr4:54267303 [GRCh38]
Chr4:55133470 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+3G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001322838] Chr4:54278518 [GRCh38]
Chr4:55144685 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+1GT[2] microsatellite Gastrointestinal stromal tumor [RCV001345749] Chr4:54289115..54289116 [GRCh38]
Chr4:55155282..55155283 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.551T>G (p.Val184Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001362711] Chr4:54263850 [GRCh38]
Chr4:55130017 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2804G>C (p.Ser935Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001295881]|Hereditary cancer-predisposing syndrome [RCV002437007] Chr4:54289038 [GRCh38]
Chr4:55155205 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-6C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001306430] Chr4:54277382 [GRCh38]
Chr4:55143549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1009G>T (p.Val337Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001308634]|Hereditary cancer-predisposing syndrome [RCV002437052] Chr4:54267629 [GRCh38]
Chr4:55133796 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.319A>T (p.Thr107Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001340650] Chr4:54261364 [GRCh38]
Chr4:55127531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3046A>G (p.Ser1016Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001301517] Chr4:54290478 [GRCh38]
Chr4:55156645 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55127252)_(55131226_?)del deletion Gastrointestinal stromal tumor [RCV001362857] Chr4:55127252..55131226 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1676_1681del (p.Trp559_Val561delinsPhe) deletion not provided [RCV001356217] Chr4:54274863..54274868 [GRCh38]
Chr4:55141030..55141035 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.933G>C (p.Glu311Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001337774]|Hereditary cancer-predisposing syndrome [RCV002377433] Chr4:54267553 [GRCh38]
Chr4:55133720 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2159A>G (p.Tyr720Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001340681] Chr4:54280318 [GRCh38]
Chr4:55146485 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.818A>G (p.Tyr273Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001300087] Chr4:54267347 [GRCh38]
Chr4:55133514 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3104G>A (p.Gly1035Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001318673] Chr4:54290536 [GRCh38]
Chr4:55156703 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3091G>A (p.Glu1031Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001309660] Chr4:54290523 [GRCh38]
Chr4:55156690 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2504dup (p.Cys835fs) duplication not provided [RCV001356708] Chr4:54285904..54285905 [GRCh38]
Chr4:55152071..55152072 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2851G>C (p.Glu951Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001309799] Chr4:54289085 [GRCh38]
Chr4:55155252 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.208G>A (p.Glu70Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001343926] Chr4:54261253 [GRCh38]
Chr4:55127420 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1431C>G (p.His477Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001323047]|Hereditary cancer-predisposing syndrome [RCV002395709] Chr4:54273603 [GRCh38]
Chr4:55139770 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.198C>G (p.Ser66Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001323106] Chr4:54261243 [GRCh38]
Chr4:55127410 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.546C>G (p.Phe182Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001352245] Chr4:54263845 [GRCh38]
Chr4:55130012 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1618A>T (p.Ile540Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001322026] Chr4:54274590 [GRCh38]
Chr4:55140757 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1792G>T (p.Val598Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001361275] Chr4:54277393 [GRCh38]
Chr4:55143560 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.308A>G (p.Asn103Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001296213]|Hereditary cancer-predisposing syndrome [RCV003294204] Chr4:54261353 [GRCh38]
Chr4:55127520 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2675-1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001316790] Chr4:54288798 [GRCh38]
Chr4:55154965 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.993A>T (p.Glu331Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001341034] Chr4:54267613 [GRCh38]
Chr4:55133780 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.278C>A (p.Ala93Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001325734] Chr4:54261323 [GRCh38]
Chr4:55127490 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.89T>C (p.Ile30Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001341083] Chr4:54261134 [GRCh38]
Chr4:55127301 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2606_2610dup (p.Leu871fs) duplication Gastrointestinal stromal tumor [RCV001323291] Chr4:54287472..54287473 [GRCh38]
Chr4:55153639..55153640 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2399A>G (p.Tyr800Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001346155] Chr4:54285446 [GRCh38]
Chr4:55151613 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2345T>A (p.Leu782His) single nucleotide variant Gastrointestinal stromal tumor [RCV001363209] Chr4:54285392 [GRCh38]
Chr4:55151559 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.35G>C (p.Gly12Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001339045]|Ovarian cancer [RCV003154000] Chr4:54258803 [GRCh38]
Chr4:55124970 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.468G>C (p.Glu156Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001316950] Chr4:54263767 [GRCh38]
Chr4:55129934 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55133446)_(55136925_?)del deletion Gastrointestinal stromal tumor [RCV001300581] Chr4:55133446..55136925 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1462G>A (p.Val488Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001342735] Chr4:54273634 [GRCh38]
Chr4:55139801 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2067T>G (p.Asn689Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001322254] Chr4:54278426 [GRCh38]
Chr4:55144593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.182T>C (p.Met61Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001322265] Chr4:54261227 [GRCh38]
Chr4:55127394 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.767A>G (p.Lys256Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001308892] Chr4:54267296 [GRCh38]
Chr4:55133463 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1256A>C (p.Asp419Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001361733] Chr4:54272412 [GRCh38]
Chr4:55138579 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1672C>A (p.Arg558Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001372780]|Hereditary cancer-predisposing syndrome [RCV002404888] Chr4:54274859 [GRCh38]
Chr4:55141026 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.40C>A (p.Leu14Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001315089] Chr4:54258808 [GRCh38]
Chr4:55124975 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.673T>C (p.Tyr225His) single nucleotide variant Gastrointestinal stromal tumor [RCV001308902] Chr4:54264963 [GRCh38]
Chr4:55131130 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3161C>G (p.Ser1054Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001308931] Chr4:54295163 [GRCh38]
Chr4:55161330 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.560A>G (p.Tyr187Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001342894] Chr4:54263859 [GRCh38]
Chr4:55130026 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1544A>C (p.Lys515Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001350474] Chr4:54273716 [GRCh38]
Chr4:55139883 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1000C>T (p.His334Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001352540]|Hereditary cancer-predisposing syndrome [RCV002350666]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473876] Chr4:54267620 [GRCh38]
Chr4:55133787 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2909T>A (p.Leu970Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001318175] Chr4:54290341 [GRCh38]
Chr4:55156508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-7T>A single nucleotide variant Gastrointestinal stromal tumor [RCV001323624] Chr4:54270626 [GRCh38]
Chr4:55136793 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3157G>A (p.Gly1053Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001305169]|Hereditary cancer-predisposing syndrome [RCV003166731] Chr4:54295159 [GRCh38]
Chr4:55161326 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2844G>C (p.Glu948Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001305172] Chr4:54289078 [GRCh38]
Chr4:55155245 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1288G>A (p.Gly430Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001343213]|Hereditary cancer-predisposing syndrome [RCV002384469] Chr4:54272444 [GRCh38]
Chr4:55138611 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1591G>A (p.Val531Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001323649] Chr4:54274563 [GRCh38]
Chr4:55140730 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.439A>G (p.Ile147Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001298864] Chr4:54263738 [GRCh38]
Chr4:55129905 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001301137] Chr4:54274631 [GRCh38]
Chr4:55140798 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2397dup (p.Tyr800fs) duplication not provided [RCV001354152] Chr4:54285442..54285443 [GRCh38]
Chr4:55151609..55151610 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.367+3G>C single nucleotide variant Gastrointestinal stromal tumor [RCV001363937] Chr4:54261415 [GRCh38]
Chr4:55127582 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1180A>C (p.Ile394Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001364515] Chr4:54270691 [GRCh38]
Chr4:55136858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.160G>A (p.Glu54Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001364588] Chr4:54261205 [GRCh38]
Chr4:55127372 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2315C>A (p.Ser772Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001305319]|Ovarian cancer [RCV003153981] Chr4:54280474 [GRCh38]
Chr4:55146641 [GRCh37]
Chr4:4q12		 benign|uncertain significance
NM_006206.6(PDGFRA):c.917C>T (p.Thr306Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001351685] Chr4:54267446 [GRCh38]
Chr4:55133613 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1755A>G (p.Arg585=) single nucleotide variant Gastrointestinal stromal tumor [RCV001337550] Chr4:54274942 [GRCh38]
Chr4:55141109 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1361A>G (p.Lys454Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001366309] Chr4:54272517 [GRCh38]
Chr4:55138684 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001313958] Chr4:54278007 [GRCh38]
Chr4:55144174 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1666_1671del (p.Glu556_Ile557del) deletion not provided [RCV001357317] Chr4:54274852..54274857 [GRCh38]
Chr4:55141019..55141024 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1858C>T (p.Pro620Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001370904] Chr4:54277459 [GRCh38]
Chr4:55143626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2183A>G (p.Asn728Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001371057] Chr4:54280342 [GRCh38]
Chr4:55146509 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3019del (p.Leu1007fs) deletion Gastrointestinal stromal tumor [RCV001360154] Chr4:54290451 [GRCh38]
Chr4:55156618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1281A>C (p.Ser427=) single nucleotide variant Gastrointestinal stromal tumor [RCV001421471] Chr4:54272437 [GRCh38]
Chr4:55138604 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.695T>C (p.Val232Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001370333] Chr4:54264985 [GRCh38]
Chr4:55131152 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.575C>G (p.Thr192Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001318359] Chr4:54263874 [GRCh38]
Chr4:55130041 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2788G>T (p.Val930Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001309391] Chr4:54289022 [GRCh38]
Chr4:55155189 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.502G>A (p.Val168Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001305152]|Hereditary cancer-predisposing syndrome [RCV002341609]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003473852] Chr4:54263801 [GRCh38]
Chr4:55129968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1661G>T (p.Arg554Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001305777]|Hereditary cancer-predisposing syndrome [RCV003294238] Chr4:54274848 [GRCh38]
Chr4:55141015 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880G>C (p.Lys960Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001326492] Chr4:54289114 [GRCh38]
Chr4:55155281 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2842G>A (p.Glu948Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001367023] Chr4:54289076 [GRCh38]
Chr4:55155243 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1393T>C (p.Leu465=) single nucleotide variant Gastrointestinal stromal tumor [RCV001412561]|Hereditary cancer-predisposing syndrome [RCV002395934] Chr4:54273565 [GRCh38]
Chr4:55139732 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2207A>C (p.Gln736Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001307401]|Hereditary cancer-predisposing syndrome [RCV002430118] Chr4:54280366 [GRCh38]
Chr4:55146533 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.592T>A (p.Phe198Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001300236]|Hereditary cancer-predisposing syndrome [RCV002357096] Chr4:54263891 [GRCh38]
Chr4:55130058 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2364A>C (p.Glu788Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001368876] Chr4:54285411 [GRCh38]
Chr4:55151578 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3259A>G (p.Ser1087Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001367266]|Hereditary cancer-predisposing syndrome [RCV003169865]|not provided [RCV003442873] Chr4:54295261 [GRCh38]
Chr4:55161428 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2266G>T (p.Asp756Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001319085] Chr4:54280425 [GRCh38]
Chr4:55146592 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55143545)_(55161473_?)dup duplication Gastrointestinal stromal tumor [RCV001300582] Chr4:55143545..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2005C>T (p.Pro669Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001360615] Chr4:54278364 [GRCh38]
Chr4:55144531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2919C>A (p.Asp973Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001367346]|Hereditary cancer-predisposing syndrome [RCV003339621] Chr4:54290351 [GRCh38]
Chr4:55156518 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1409C>G (p.Ser470Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001369665] Chr4:54273581 [GRCh38]
Chr4:55139748 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.469A>T (p.Thr157Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001360845]|Hereditary cancer-predisposing syndrome [RCV002341758] Chr4:54263768 [GRCh38]
Chr4:55129935 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.301T>C (p.Tyr101His) single nucleotide variant Gastrointestinal stromal tumor [RCV001348215] Chr4:54261346 [GRCh38]
Chr4:55127513 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1395G>C (p.Leu465Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001361214] Chr4:54273567 [GRCh38]
Chr4:55139734 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2765C>T (p.Thr922Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001304309]|Hereditary cancer-predisposing syndrome [RCV002437032] Chr4:54288889 [GRCh38]
Chr4:55155056 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2293C>T (p.Pro765Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001349077] Chr4:54280452 [GRCh38]
Chr4:55146619 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.690G>T (p.Thr230=) single nucleotide variant Gastrointestinal stromal tumor [RCV001494872]|Hereditary cancer-predisposing syndrome [RCV002368511] Chr4:54264980 [GRCh38]
Chr4:55131147 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.871G>A (p.Ala291Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001349923]|Hereditary cancer-predisposing syndrome [RCV003284243] Chr4:54267400 [GRCh38]
Chr4:55133567 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.172C>A (p.Gln58Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001349191] Chr4:54261217 [GRCh38]
Chr4:55127384 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.406T>C (p.Tyr136His) single nucleotide variant Gastrointestinal stromal tumor [RCV001369442] Chr4:54263705 [GRCh38]
Chr4:55129872 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.804C>T (p.Ser268=) single nucleotide variant Gastrointestinal stromal tumor [RCV001412410]|Hereditary cancer-predisposing syndrome [RCV003298683] Chr4:54267333 [GRCh38]
Chr4:55133500 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.979G>C (p.Val327Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001312914] Chr4:54267599 [GRCh38]
Chr4:55133766 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3079C>T (p.Pro1027Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001339606] Chr4:54290511 [GRCh38]
Chr4:55156678 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2153G>T (p.Arg718Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001349494]|Hereditary cancer-predisposing syndrome [RCV002431989] Chr4:54278512 [GRCh38]
Chr4:55144679 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2759A>G (p.His920Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001350612] Chr4:54288883 [GRCh38]
Chr4:55155050 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3242C>T (p.Ser1081Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001369692] Chr4:54295244 [GRCh38]
Chr4:55161411 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2535_2543del (p.Asp846_Asn848del) deletion not provided [RCV001356476] Chr4:54285935..54285943 [GRCh38]
Chr4:55152102..55152110 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1002T>C (p.His334=) single nucleotide variant Gastrointestinal stromal tumor [RCV001457522]|Hereditary cancer-predisposing syndrome [RCV002396072] Chr4:54267622 [GRCh38]
Chr4:55133789 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1185A>G (p.Val395=) single nucleotide variant Gastrointestinal stromal tumor [RCV001435435] Chr4:54270696 [GRCh38]
Chr4:55136863 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1434C>T (p.Ser478=) single nucleotide variant Gastrointestinal stromal tumor [RCV001473061] Chr4:54273606 [GRCh38]
Chr4:55139773 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2373T>A (p.Thr791=) single nucleotide variant Gastrointestinal stromal tumor [RCV001427709] Chr4:54285420 [GRCh38]
Chr4:55151587 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001427710] Chr4:54295115 [GRCh38]
Chr4:55161282 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1854C>T (p.Ser618=) single nucleotide variant Gastrointestinal stromal tumor [RCV001420003] Chr4:54277455 [GRCh38]
Chr4:55143622 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1410A>C (p.Ser470=) single nucleotide variant Gastrointestinal stromal tumor [RCV001399034] Chr4:54273582 [GRCh38]
Chr4:55139749 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3064C>T (p.Leu1022=) single nucleotide variant Gastrointestinal stromal tumor [RCV001469947]|Hereditary cancer-predisposing syndrome [RCV002449254] Chr4:54290496 [GRCh38]
Chr4:55156663 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.57C>T (p.Ser19=) single nucleotide variant Gastrointestinal stromal tumor [RCV001487224] Chr4:54261102 [GRCh38]
Chr4:55127269 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.606A>G (p.Pro202=) single nucleotide variant Gastrointestinal stromal tumor [RCV001473158]|Hereditary cancer-predisposing syndrome [RCV002359059] Chr4:54263905 [GRCh38]
Chr4:55130072 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.33A>G (p.Leu11=) single nucleotide variant Gastrointestinal stromal tumor [RCV001492376] Chr4:54258801 [GRCh38]
Chr4:55124968 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1704T>C (p.Asp568=) single nucleotide variant Gastrointestinal stromal tumor [RCV001499459]|Hereditary cancer-predisposing syndrome [RCV002414205] Chr4:54274891 [GRCh38]
Chr4:55141058 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.78A>T (p.Ser26=) single nucleotide variant Gastrointestinal stromal tumor [RCV001454001]|Hereditary cancer-predisposing syndrome [RCV002421024] Chr4:54261123 [GRCh38]
Chr4:55127290 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.966C>T (p.Ser322=) single nucleotide variant Gastrointestinal stromal tumor [RCV001502003] Chr4:54267586 [GRCh38]
Chr4:55133753 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+10G>C single nucleotide variant Gastrointestinal stromal tumor [RCV001454911] Chr4:54290564 [GRCh38]
Chr4:55156731 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.79T>C (p.Leu27=) single nucleotide variant Gastrointestinal stromal tumor [RCV001465547]|Hereditary cancer-predisposing syndrome [RCV002421058] Chr4:54261124 [GRCh38]
Chr4:55127291 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2652G>T (p.Leu884=) single nucleotide variant Gastrointestinal stromal tumor [RCV001451326] Chr4:54287519 [GRCh38]
Chr4:55153686 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.915C>G (p.Val305=) single nucleotide variant Gastrointestinal stromal tumor [RCV001475337] Chr4:54267444 [GRCh38]
Chr4:55133611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-4A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001479828] Chr4:54290309 [GRCh38]
Chr4:55156476 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1872T>G (p.Val624=) single nucleotide variant Gastrointestinal stromal tumor [RCV001506324]|Hereditary cancer-predisposing syndrome [RCV002414231] Chr4:54277473 [GRCh38]
Chr4:55143640 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1978T>C (p.Leu660=) single nucleotide variant Gastrointestinal stromal tumor [RCV001405277]|Hereditary cancer-predisposing syndrome [RCV002420903] Chr4:54277982 [GRCh38]
Chr4:55144149 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+13del deletion Gastrointestinal stromal tumor [RCV001514991] Chr4:54290563 [GRCh38]
Chr4:55156730 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.303T>C (p.Tyr101=) single nucleotide variant Gastrointestinal stromal tumor [RCV001499127] Chr4:54261348 [GRCh38]
Chr4:55127515 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1791G>T (p.Arg597=) single nucleotide variant Gastrointestinal stromal tumor [RCV001475411]|Hereditary cancer-predisposing syndrome [RCV002405124] Chr4:54277392 [GRCh38]
Chr4:55143559 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2763T>C (p.Ala921=) single nucleotide variant Gastrointestinal stromal tumor [RCV001425797]|Hereditary cancer-predisposing syndrome [RCV002438993] Chr4:54288887 [GRCh38]
Chr4:55155054 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001436439] Chr4:54264915 [GRCh38]
Chr4:55131082 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001479770] Chr4:54264909 [GRCh38]
Chr4:55131076 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.367+10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001476926] Chr4:54261422 [GRCh38]
Chr4:55127589 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.237C>G (p.Gly79=) single nucleotide variant Gastrointestinal stromal tumor [RCV001483361]|Hereditary cancer-predisposing syndrome [RCV002456848] Chr4:54261282 [GRCh38]
Chr4:55127449 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1364+9A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001418130] Chr4:54272529 [GRCh38]
Chr4:55138696 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001471740] Chr4:54272385 [GRCh38]
Chr4:55138552 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2997G>A (p.Lys999=) single nucleotide variant Gastrointestinal stromal tumor [RCV001475649]|Hereditary cancer-predisposing syndrome [RCV003298832] Chr4:54290429 [GRCh38]
Chr4:55156596 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2193C>T (p.Tyr731=) single nucleotide variant Gastrointestinal stromal tumor [RCV001431253]|Hereditary cancer-predisposing syndrome [RCV002432196] Chr4:54280352 [GRCh38]
Chr4:55146519 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2301A>G (p.Ser767=) single nucleotide variant Gastrointestinal stromal tumor [RCV001405693]|Hereditary cancer-predisposing syndrome [RCV002449104] Chr4:54280460 [GRCh38]
Chr4:55146627 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3270A>G (p.Ter1090=) single nucleotide variant Gastrointestinal stromal tumor [RCV001462781] Chr4:54295272 [GRCh38]
Chr4:55161439 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.279C>A (p.Ala93=) single nucleotide variant Gastrointestinal stromal tumor [RCV001455606] Chr4:54261324 [GRCh38]
Chr4:55127491 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-4del deletion Gastrointestinal stromal tumor [RCV001475699] Chr4:54278358 [GRCh38]
Chr4:55144525 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-100G>A single nucleotide variant not provided [RCV001536462] Chr4:54290213 [GRCh38]
Chr4:55156380 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2574C>G (p.Pro858=) single nucleotide variant Gastrointestinal stromal tumor [RCV001452708]|Hereditary cancer-predisposing syndrome [RCV003160827]|PDGFRA-related condition [RCV003965891] Chr4:54287441 [GRCh38]
Chr4:55153608 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.252C>G (p.Val84=) single nucleotide variant Gastrointestinal stromal tumor [RCV001477482] Chr4:54261297 [GRCh38]
Chr4:55127464 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-5C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001403309] Chr4:54278357 [GRCh38]
Chr4:55144524 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.93T>G (p.Leu31=) single nucleotide variant Gastrointestinal stromal tumor [RCV001431459]|Hereditary cancer-predisposing syndrome [RCV003284324] Chr4:54261138 [GRCh38]
Chr4:55127305 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1080C>T (p.Leu360=) single nucleotide variant Gastrointestinal stromal tumor [RCV001504340]|Hereditary cancer-predisposing syndrome [RCV002421154] Chr4:54267700 [GRCh38]
Chr4:55133867 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1059T>C (p.Asn353=) single nucleotide variant Gastrointestinal stromal tumor [RCV001423506]|Hereditary cancer-predisposing syndrome [RCV002414006] Chr4:54267679 [GRCh38]
Chr4:55133846 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2661G>A (p.Glu887=) single nucleotide variant Gastrointestinal stromal tumor [RCV001463823] Chr4:54287528 [GRCh38]
Chr4:55153695 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001423620] Chr4:54265057 [GRCh38]
Chr4:55131224 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.147C>T (p.Cys49=) single nucleotide variant Gastrointestinal stromal tumor [RCV001423637]|Hereditary cancer-predisposing syndrome [RCV003160699] Chr4:54261192 [GRCh38]
Chr4:55127359 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.117G>A (p.Val39=) single nucleotide variant Gastrointestinal stromal tumor [RCV001442593] Chr4:54261162 [GRCh38]
Chr4:55127329 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653+8T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001406143] Chr4:54274633 [GRCh38]
Chr4:55140800 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2964C>T (p.Tyr988=) single nucleotide variant Gastrointestinal stromal tumor [RCV001506054] Chr4:54290396 [GRCh38]
Chr4:55156563 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.438C>G (p.Ala146=) single nucleotide variant Gastrointestinal stromal tumor [RCV001472222] Chr4:54263737 [GRCh38]
Chr4:55129904 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.648A>C (p.Leu216=) single nucleotide variant Gastrointestinal stromal tumor [RCV001501492] Chr4:54264938 [GRCh38]
Chr4:55131105 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1534C>A (p.Arg512=) single nucleotide variant Gastrointestinal stromal tumor [RCV001487677] Chr4:54273706 [GRCh38]
Chr4:55139873 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1296G>C (p.Thr432=) single nucleotide variant Gastrointestinal stromal tumor [RCV001424032]|Hereditary cancer-predisposing syndrome [RCV002384629]|not provided [RCV003433151] Chr4:54272452 [GRCh38]
Chr4:55138619 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-6G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001419424] Chr4:54267546 [GRCh38]
Chr4:55133713 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-4G>T single nucleotide variant Gastrointestinal stromal tumor [RCV001478600] Chr4:54261091 [GRCh38]
Chr4:55127258 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+10A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001502076] Chr4:54274983 [GRCh38]
Chr4:55141150 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1515T>C (p.Asn505=) single nucleotide variant Gastrointestinal stromal tumor [RCV001488663] Chr4:54273687 [GRCh38]
Chr4:55139854 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1678A>C (p.Arg560=) single nucleotide variant Gastrointestinal stromal tumor [RCV001429893] Chr4:54274865 [GRCh38]
Chr4:55141032 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.636A>G (p.Ser212=) single nucleotide variant Gastrointestinal stromal tumor [RCV001411865]|Hereditary cancer-predisposing syndrome [RCV002368288] Chr4:54264926 [GRCh38]
Chr4:55131093 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2025G>A (p.Glu675=) single nucleotide variant Gastrointestinal stromal tumor [RCV001409476]|Hereditary cancer-predisposing syndrome [RCV002420912] Chr4:54278384 [GRCh38]
Chr4:55144551 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2496G>C (p.Val832=) single nucleotide variant Gastrointestinal stromal tumor [RCV001443410] Chr4:54285897 [GRCh38]
Chr4:55152064 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1119A>C (p.Ile373=) single nucleotide variant Gastrointestinal stromal tumor [RCV001443433]|Hereditary cancer-predisposing syndrome [RCV002439044] Chr4:54267739 [GRCh38]
Chr4:55133906 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1770A>G (p.Arg590=) single nucleotide variant Gastrointestinal stromal tumor [RCV001441075] Chr4:54274957 [GRCh38]
Chr4:55141124 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2151A>G (p.Thr717=) single nucleotide variant Gastrointestinal stromal tumor [RCV001443925]|Hereditary cancer-predisposing syndrome [RCV002432236] Chr4:54278510 [GRCh38]
Chr4:55144677 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.84C>G (p.Pro28=) single nucleotide variant Gastrointestinal stromal tumor [RCV001402181] Chr4:54261129 [GRCh38]
Chr4:55127296 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.846G>A (p.Val282=) single nucleotide variant Gastrointestinal stromal tumor [RCV001446336] Chr4:54267375 [GRCh38]
Chr4:55133542 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2619C>T (p.Thr873=) single nucleotide variant Gastrointestinal stromal tumor [RCV001448948]|Hereditary cancer-predisposing syndrome [RCV003160811] Chr4:54287486 [GRCh38]
Chr4:55153653 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.765C>A (p.Gly255=) single nucleotide variant Gastrointestinal stromal tumor [RCV001415826]|Hereditary cancer-predisposing syndrome [RCV003298693] Chr4:54267294 [GRCh38]
Chr4:55133461 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001428196] Chr4:54273531 [GRCh38]
Chr4:55139698 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1044C>T (p.Ser348=) single nucleotide variant Gastrointestinal stromal tumor [RCV001405359] Chr4:54267664 [GRCh38]
Chr4:55133831 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1146C>T (p.Ile382=) single nucleotide variant Gastrointestinal stromal tumor [RCV001428603]|Hereditary cancer-predisposing syndrome [RCV002341929] Chr4:54270657 [GRCh38]
Chr4:55136824 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-8T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001444558] Chr4:54272386 [GRCh38]
Chr4:55138553 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-9del deletion Gastrointestinal stromal tumor [RCV001447134] Chr4:54289000 [GRCh38]
Chr4:55155167 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1323G>T (p.Pro441=) single nucleotide variant Gastrointestinal stromal tumor [RCV001447156]|Hereditary cancer-predisposing syndrome [RCV002384692] Chr4:54272479 [GRCh38]
Chr4:55138646 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1509T>C (p.Ala503=) single nucleotide variant Gastrointestinal stromal tumor [RCV001447132] Chr4:54273681 [GRCh38]
Chr4:55139848 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1017G>T (p.Val339=) single nucleotide variant Gastrointestinal stromal tumor [RCV001428676] Chr4:54267637 [GRCh38]
Chr4:55133804 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.537T>C (p.Asn179=) single nucleotide variant Gastrointestinal stromal tumor [RCV001398200] Chr4:54263836 [GRCh38]
Chr4:55130003 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3171C>T (p.Ser1057=) single nucleotide variant Gastrointestinal stromal tumor [RCV001426909]|Hereditary cancer-predisposing syndrome [RCV002322448] Chr4:54295173 [GRCh38]
Chr4:55161340 [GRCh37]
Chr4:4q12		 likely benign
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NM_006206.6(PDGFRA):c.1654-3T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001423373] Chr4:54274838 [GRCh38]
Chr4:55141005 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.429T>C (p.Asp143=) single nucleotide variant Gastrointestinal stromal tumor [RCV001427146] Chr4:54263728 [GRCh38]
Chr4:55129895 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-8G>C single nucleotide variant Gastrointestinal stromal tumor [RCV001416018] Chr4:54288791 [GRCh38]
Chr4:55154958 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1464G>T (p.Val488=) single nucleotide variant Gastrointestinal stromal tumor [RCV001445240]|Hereditary cancer-predisposing syndrome [RCV003339643] Chr4:54273636 [GRCh38]
Chr4:55139803 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2520C>G (p.Ala840=) single nucleotide variant Gastrointestinal stromal tumor [RCV001447768] Chr4:54285921 [GRCh38]
Chr4:55152088 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.267T>C (p.Ser89=) single nucleotide variant Gastrointestinal stromal tumor [RCV001411153] Chr4:54261312 [GRCh38]
Chr4:55127479 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1791G>A (p.Arg597=) single nucleotide variant Gastrointestinal stromal tumor [RCV001445481] Chr4:54277392 [GRCh38]
Chr4:55143559 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1851G>A (p.Arg617=) single nucleotide variant Gastrointestinal stromal tumor [RCV001445511]|Hereditary cancer-predisposing syndrome [RCV002414065] Chr4:54277452 [GRCh38]
Chr4:55143619 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1560C>G (p.Thr520=) single nucleotide variant Gastrointestinal stromal tumor [RCV001438156] Chr4:54274532 [GRCh38]
Chr4:55140699 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3012G>A (p.Glu1004=) single nucleotide variant Gastrointestinal stromal tumor [RCV001442762]|Hereditary cancer-predisposing syndrome [RCV002439041] Chr4:54290444 [GRCh38]
Chr4:55156611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1929T>G (p.Ser643=) single nucleotide variant Gastrointestinal stromal tumor [RCV001445614] Chr4:54277933 [GRCh38]
Chr4:55144100 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1302G>A (p.Arg434=) single nucleotide variant Gastrointestinal stromal tumor [RCV001401737]|Hereditary cancer-predisposing syndrome [RCV002384579] Chr4:54272458 [GRCh38]
Chr4:55138625 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.129A>G (p.Ser43=) single nucleotide variant Gastrointestinal stromal tumor [RCV001402911]|Hereditary cancer-predisposing syndrome [RCV002384585] Chr4:54261174 [GRCh38]
Chr4:55127341 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1887A>G (p.Leu629=) single nucleotide variant Gastrointestinal stromal tumor [RCV001411442] Chr4:54277488 [GRCh38]
Chr4:55143655 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-5del deletion Gastrointestinal stromal tumor [RCV001440624] Chr4:54278354 [GRCh38]
Chr4:55144521 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1956G>T (p.Gly652=) single nucleotide variant Gastrointestinal stromal tumor [RCV001448510] Chr4:54277960 [GRCh38]
Chr4:55144127 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1491C>T (p.Ile497=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419760]|Hereditary cancer-predisposing syndrome [RCV002395955] Chr4:54273663 [GRCh38]
Chr4:55139830 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1788T>C (p.Gly596=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419981]|Hereditary cancer-predisposing syndrome [RCV003375291] Chr4:54277389 [GRCh38]
Chr4:55143556 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3027G>A (p.Glu1009=) single nucleotide variant Gastrointestinal stromal tumor [RCV001457223]|Hereditary cancer-predisposing syndrome [RCV003160855] Chr4:54290459 [GRCh38]
Chr4:55156626 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.-13+111dup duplication not provided [RCV001668859] Chr4:54229515..54229516 [GRCh38]
Chr4:55095682..55095683 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1121+51C>T single nucleotide variant not provided [RCV001684025] Chr4:54267792 [GRCh38]
Chr4:55133959 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.285A>T (p.Thr95=) single nucleotide variant Gastrointestinal stromal tumor [RCV001454504] Chr4:54261330 [GRCh38]
Chr4:55127497 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.525A>G (p.Arg175=) single nucleotide variant Gastrointestinal stromal tumor [RCV001450247]|Hereditary cancer-predisposing syndrome [RCV002341995] Chr4:54263824 [GRCh38]
Chr4:55129991 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-109A>G single nucleotide variant not provided [RCV001617461] Chr4:54278253 [GRCh38]
Chr4:55144420 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.804C>G (p.Ser268=) single nucleotide variant Gastrointestinal stromal tumor [RCV001499330]|Hereditary cancer-predisposing syndrome [RCV003375328] Chr4:54267333 [GRCh38]
Chr4:55133500 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-292T>G single nucleotide variant not provided [RCV001707265] Chr4:54264627 [GRCh38]
Chr4:55130794 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1644T>A (p.Ile548=) single nucleotide variant Gastrointestinal stromal tumor [RCV001510343] Chr4:54274616 [GRCh38]
Chr4:55140783 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.15T>C (p.His5=) single nucleotide variant Gastrointestinal stromal tumor [RCV001465544] Chr4:54258783 [GRCh38]
Chr4:55124950 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1800G>T (p.Gly600=) single nucleotide variant Gastrointestinal stromal tumor [RCV001465648] Chr4:54277401 [GRCh38]
Chr4:55143568 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+234C>A single nucleotide variant not provided [RCV001619007] Chr4:54265283 [GRCh38]
Chr4:55131450 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2881-5dup duplication Gastrointestinal stromal tumor [RCV001462453] Chr4:54290305..54290306 [GRCh38]
Chr4:55156472..55156473 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+8C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001459832] Chr4:54278523 [GRCh38]
Chr4:55144690 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1089C>T (p.Ile363=) single nucleotide variant Gastrointestinal stromal tumor [RCV001487352] Chr4:54267709 [GRCh38]
Chr4:55133876 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-26_2324-25insTTT insertion not provided [RCV001693588] Chr4:54285345..54285346 [GRCh38]
Chr4:55151512..55151513 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1786+153G>A single nucleotide variant not provided [RCV001680547] Chr4:54275126 [GRCh38]
Chr4:55141293 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2324-30_2324-26del deletion not provided [RCV001716490] Chr4:54285341..54285345 [GRCh38]
Chr4:55151508..55151512 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2157-250T>A single nucleotide variant not provided [RCV001581949] Chr4:54280066 [GRCh38]
Chr4:55146233 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-111_2003-109del deletion not provided [RCV001654802] Chr4:54278224..54278226 [GRCh38]
Chr4:55144391..55144393 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2674+213T>C single nucleotide variant not provided [RCV001686957] Chr4:54287754 [GRCh38]
Chr4:55153921 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2211T>A (p.Ala737=) single nucleotide variant Gastrointestinal stromal tumor [RCV001452791] Chr4:54280370 [GRCh38]
Chr4:55146537 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.189A>G (p.Glu63=) single nucleotide variant Gastrointestinal stromal tumor [RCV001471030] Chr4:54261234 [GRCh38]
Chr4:55127401 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+277T>A single nucleotide variant not provided [RCV001685343] Chr4:54280759 [GRCh38]
Chr4:55146926 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2323+278del deletion not provided [RCV001678695] Chr4:54280755 [GRCh38]
Chr4:55146922 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1121+275G>T single nucleotide variant not provided [RCV001674927] Chr4:54268016 [GRCh38]
Chr4:55134183 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.468G>A (p.Glu156=) single nucleotide variant Gastrointestinal stromal tumor [RCV001453641] Chr4:54263767 [GRCh38]
Chr4:55129934 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+8C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001460745] Chr4:54285971 [GRCh38]
Chr4:55152138 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1311T>C (p.Ala437=) single nucleotide variant Gastrointestinal stromal tumor [RCV001460649] Chr4:54272467 [GRCh38]
Chr4:55138634 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+279A>T single nucleotide variant not provided [RCV001716476] Chr4:54280761 [GRCh38]
Chr4:55146928 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2881-314A>G single nucleotide variant not provided [RCV001654601] Chr4:54289999 [GRCh38]
Chr4:55156166 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2934A>G (p.Ala978=) single nucleotide variant Gastrointestinal stromal tumor [RCV001505583]|Hereditary cancer-predisposing syndrome [RCV003161028] Chr4:54290366 [GRCh38]
Chr4:55156533 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1680G>A (p.Arg560=) single nucleotide variant Gastrointestinal stromal tumor [RCV001485439] Chr4:54274867 [GRCh38]
Chr4:55141034 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-180C>T single nucleotide variant not provided [RCV001619160] Chr4:54290133 [GRCh38]
Chr4:55156300 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.831C>G (p.Val277=) single nucleotide variant Gastrointestinal stromal tumor [RCV001461386] Chr4:54267360 [GRCh38]
Chr4:55133527 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-5C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001478786] Chr4:54263662 [GRCh38]
Chr4:55129829 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.333G>A (p.Glu111=) single nucleotide variant Gastrointestinal stromal tumor [RCV001401181]|Hereditary cancer-predisposing syndrome [RCV002322393] Chr4:54261378 [GRCh38]
Chr4:55127545 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.582A>G (p.Lys194=) single nucleotide variant Gastrointestinal stromal tumor [RCV001401184] Chr4:54263881 [GRCh38]
Chr4:55130048 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001495608] Chr4:54277381 [GRCh38]
Chr4:55143548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.819C>T (p.Tyr273=) single nucleotide variant Gastrointestinal stromal tumor [RCV001490243] Chr4:54267348 [GRCh38]
Chr4:55133515 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+10T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001490387] Chr4:54287551 [GRCh38]
Chr4:55153718 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2625G>T (p.Leu875=) single nucleotide variant Gastrointestinal stromal tumor [RCV001495154]|Hereditary cancer-predisposing syndrome [RCV002432391] Chr4:54287492 [GRCh38]
Chr4:55153659 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1635G>C (p.Leu545=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419155]|Hereditary cancer-predisposing syndrome [RCV002404984] Chr4:54274607 [GRCh38]
Chr4:55140774 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1791G>C (p.Arg597=) single nucleotide variant Gastrointestinal stromal tumor [RCV001499945] Chr4:54277392 [GRCh38]
Chr4:55143559 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1035C>T (p.Pro345=) single nucleotide variant Gastrointestinal stromal tumor [RCV001487401] Chr4:54267655 [GRCh38]
Chr4:55133822 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1599G>A (p.Val533=) single nucleotide variant Gastrointestinal stromal tumor [RCV001473445] Chr4:54274571 [GRCh38]
Chr4:55140738 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3006C>T (p.Asp1002=) single nucleotide variant Gastrointestinal stromal tumor [RCV001450681]|Hereditary cancer-predisposing syndrome [RCV002439064] Chr4:54290438 [GRCh38]
Chr4:55156605 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.204T>C (p.Asp68=) single nucleotide variant Gastrointestinal stromal tumor [RCV001450826]|Hereditary cancer-predisposing syndrome [RCV002421017] Chr4:54261249 [GRCh38]
Chr4:55127416 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001425056] Chr4:54278354 [GRCh38]
Chr4:55144521 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-4A>T single nucleotide variant Gastrointestinal stromal tumor [RCV001431424] Chr4:54264915 [GRCh38]
Chr4:55131082 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3033A>G (p.Arg1011=) single nucleotide variant Gastrointestinal stromal tumor [RCV001485894]|Hereditary cancer-predisposing syndrome [RCV002439165] Chr4:54290465 [GRCh38]
Chr4:55156632 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2970T>C (p.Gly990=) single nucleotide variant Gastrointestinal stromal tumor [RCV001490757] Chr4:54290402 [GRCh38]
Chr4:55156569 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001495647] Chr4:54272388 [GRCh38]
Chr4:55138555 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1221T>C (p.Phe407=) single nucleotide variant Gastrointestinal stromal tumor [RCV001498520] Chr4:54270732 [GRCh38]
Chr4:55136899 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1779A>G (p.Leu593=) single nucleotide variant Gastrointestinal stromal tumor [RCV001403473] Chr4:54274966 [GRCh38]
Chr4:55141133 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2169A>G (p.Leu723=) single nucleotide variant Gastrointestinal stromal tumor [RCV001458459]|Hereditary cancer-predisposing syndrome [RCV002432281] Chr4:54280328 [GRCh38]
Chr4:55146495 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.12C>T (p.Ser4=) single nucleotide variant Gastrointestinal stromal tumor [RCV001460540] Chr4:54258780 [GRCh38]
Chr4:55124947 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+7G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001473978] Chr4:54280489 [GRCh38]
Chr4:55146656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1851G>C (p.Arg617=) single nucleotide variant Gastrointestinal stromal tumor [RCV001403762] Chr4:54277452 [GRCh38]
Chr4:55143619 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2994C>T (p.Asp998=) single nucleotide variant Gastrointestinal stromal tumor [RCV001460712] Chr4:54290426 [GRCh38]
Chr4:55156593 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3018T>G (p.Gly1006=) single nucleotide variant Gastrointestinal stromal tumor [RCV001464549] Chr4:54290450 [GRCh38]
Chr4:55156617 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1440C>T (p.Asp480=) single nucleotide variant Gastrointestinal stromal tumor [RCV001457265]|Hereditary cancer-predisposing syndrome [RCV002396070] Chr4:54273612 [GRCh38]
Chr4:55139779 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2580G>A (p.Lys860=) single nucleotide variant Gastrointestinal stromal tumor [RCV001505070] Chr4:54287447 [GRCh38]
Chr4:55153614 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3000G>A (p.Leu1000=) single nucleotide variant Gastrointestinal stromal tumor [RCV001451624] Chr4:54290432 [GRCh38]
Chr4:55156599 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001496411] Chr4:54267468 [GRCh38]
Chr4:55133635 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.816G>A (p.Val272=) single nucleotide variant Gastrointestinal stromal tumor [RCV001502604] Chr4:54267345 [GRCh38]
Chr4:55133512 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1305C>T (p.Cys435=) single nucleotide variant Gastrointestinal stromal tumor [RCV001478451]|Hereditary cancer-predisposing syndrome [RCV003160937] Chr4:54272461 [GRCh38]
Chr4:55138628 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2130G>A (p.Leu710=) single nucleotide variant Gastrointestinal stromal tumor [RCV001438373] Chr4:54278489 [GRCh38]
Chr4:55144656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.735T>C (p.Leu245=) single nucleotide variant Gastrointestinal stromal tumor [RCV001402062]|Hereditary cancer-predisposing syndrome [RCV002384582] Chr4:54265025 [GRCh38]
Chr4:55131192 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3120C>T (p.His1040=) single nucleotide variant Gastrointestinal stromal tumor [RCV001476722] Chr4:54290552 [GRCh38]
Chr4:55156719 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1773T>C (p.Asp591=) single nucleotide variant Gastrointestinal stromal tumor [RCV001406744] Chr4:54274960 [GRCh38]
Chr4:55141127 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1920T>C (p.Ala640=) single nucleotide variant Gastrointestinal stromal tumor [RCV001406772] Chr4:54277924 [GRCh38]
Chr4:55144091 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1362G>A (p.Lys454=) single nucleotide variant Gastrointestinal stromal tumor [RCV001440840]|Hereditary cancer-predisposing syndrome [RCV003375300] Chr4:54272518 [GRCh38]
Chr4:55138685 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2976C>A (p.Thr992=) single nucleotide variant Gastrointestinal stromal tumor [RCV001432579] Chr4:54290408 [GRCh38]
Chr4:55156575 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.30C>G (p.Val10=) single nucleotide variant Gastrointestinal stromal tumor [RCV001459184]|Hereditary cancer-predisposing syndrome [RCV002322502] Chr4:54258798 [GRCh38]
Chr4:55124965 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2190C>T (p.Asp730=) single nucleotide variant Gastrointestinal stromal tumor [RCV001454356]|Hereditary cancer-predisposing syndrome [RCV002432261] Chr4:54280349 [GRCh38]
Chr4:55146516 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.921T>A (p.Ile307=) single nucleotide variant Gastrointestinal stromal tumor [RCV001423651]|Hereditary cancer-predisposing syndrome [RCV002377674] Chr4:54267450 [GRCh38]
Chr4:55133617 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2502C>T (p.Ile834=) single nucleotide variant Gastrointestinal stromal tumor [RCV001393697] Chr4:54285903 [GRCh38]
Chr4:55152070 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1128A>T (p.Arg376=) single nucleotide variant Gastrointestinal stromal tumor [RCV001419907] Chr4:54270639 [GRCh38]
Chr4:55136806 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1011A>G (p.Val337=) single nucleotide variant Gastrointestinal stromal tumor [RCV001432913] Chr4:54267631 [GRCh38]
Chr4:55133798 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2898C>T (p.His966=) single nucleotide variant Gastrointestinal stromal tumor [RCV001393770]|Hereditary cancer-predisposing syndrome [RCV002438899] Chr4:54290330 [GRCh38]
Chr4:55156497 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.69C>T (p.Cys23=) single nucleotide variant Gastrointestinal stromal tumor [RCV001426552] Chr4:54261114 [GRCh38]
Chr4:55127281 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-4C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001434794] Chr4:54273533 [GRCh38]
Chr4:55139700 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2650C>T (p.Leu884=) single nucleotide variant Gastrointestinal stromal tumor [RCV001427975]|Hereditary cancer-predisposing syndrome [RCV002456701] Chr4:54287517 [GRCh38]
Chr4:55153684 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2028T>C (p.Tyr676=) single nucleotide variant Gastrointestinal stromal tumor [RCV001456373]|Hereditary cancer-predisposing syndrome [RCV002421032] Chr4:54278387 [GRCh38]
Chr4:55144554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.240T>C (p.Leu80=) single nucleotide variant Gastrointestinal stromal tumor [RCV001488913] Chr4:54261285 [GRCh38]
Chr4:55127452 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.51G>A (p.Gly17=) single nucleotide variant Gastrointestinal stromal tumor [RCV001471685]|Hereditary cancer-predisposing syndrome [RCV003160910] Chr4:54261096 [GRCh38]
Chr4:55127263 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.615T>C (p.Val205=) single nucleotide variant Gastrointestinal stromal tumor [RCV001400801] Chr4:54263914 [GRCh38]
Chr4:55130081 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1746T>C (p.Tyr582=) single nucleotide variant Gastrointestinal stromal tumor [RCV001497210]|Hereditary cancer-predisposing syndrome [RCV002405172] Chr4:54274933 [GRCh38]
Chr4:55141100 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.519C>T (p.Asp173=) single nucleotide variant Gastrointestinal stromal tumor [RCV001454938] Chr4:54263818 [GRCh38]
Chr4:55129985 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV001481031] Chr4:54272387 [GRCh38]
Chr4:55138554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.60A>G (p.Leu20=) single nucleotide variant Gastrointestinal stromal tumor [RCV001481049] Chr4:54261105 [GRCh38]
Chr4:55127272 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3126G>T (p.Ser1042=) single nucleotide variant Gastrointestinal stromal tumor [RCV001399038]|Hereditary cancer-predisposing syndrome [RCV002322388] Chr4:54295128 [GRCh38]
Chr4:55161295 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2823C>T (p.Pro941=) single nucleotide variant Gastrointestinal stromal tumor [RCV001401334]|Hereditary cancer-predisposing syndrome [RCV002438925] Chr4:54289057 [GRCh38]
Chr4:55155224 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1959A>T (p.Pro653=) single nucleotide variant Gastrointestinal stromal tumor [RCV001441656] Chr4:54277963 [GRCh38]
Chr4:55144130 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.249G>T (p.Thr83=) single nucleotide variant Gastrointestinal stromal tumor [RCV001405240]|Hereditary cancer-predisposing syndrome [RCV003339635] Chr4:54261294 [GRCh38]
Chr4:55127461 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3099C>T (p.Asp1033=) single nucleotide variant Gastrointestinal stromal tumor [RCV001399029] Chr4:54290531 [GRCh38]
Chr4:55156698 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2882G>A (p.Ser961Asn) single nucleotide variant not provided [RCV003238098] Chr4:54290314 [GRCh38]
Chr4:55156481 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.274G>A (p.Ala92Thr) single nucleotide variant not provided [RCV003238099] Chr4:54261319 [GRCh38]
Chr4:55127486 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.628+82dup duplication not provided [RCV002280499] Chr4:54263994..54263995 [GRCh38]
Chr4:55130161..55130162 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3074T>C (p.Ile1025Thr) single nucleotide variant not provided [RCV003238097] Chr4:54290506 [GRCh38]
Chr4:55156673 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-13+132T>G single nucleotide variant not provided [RCV001754365] Chr4:54229547 [GRCh38]
Chr4:55095714 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.*6G>A single nucleotide variant not specified [RCV001822193] Chr4:54295278 [GRCh38]
Chr4:55161445 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.485A>G (p.His162Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001998823]|Hereditary cancer-predisposing syndrome [RCV002335011] Chr4:54263784 [GRCh38]
Chr4:55129951 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3197C>G (p.Thr1066Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002000234] Chr4:54295199 [GRCh38]
Chr4:55161366 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.769G>A (p.Gly257Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001990162] Chr4:54267298 [GRCh38]
Chr4:55133465 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1043C>T (p.Ser348Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001875536]|Hereditary cancer-predisposing syndrome [RCV003166946] Chr4:54267663 [GRCh38]
Chr4:55133830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1864A>C (p.Met622Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002042250] Chr4:54277465 [GRCh38]
Chr4:55143632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2708C>T (p.Ser903Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001874252] Chr4:54288832 [GRCh38]
Chr4:55154999 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.605C>T (p.Pro202Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002046276] Chr4:54263904 [GRCh38]
Chr4:55130071 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2479G>A (p.Ala827Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002046925]|Hereditary cancer-predisposing syndrome [RCV002449457] Chr4:54285880 [GRCh38]
Chr4:55152047 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2855A>C (p.Asn952Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001874624] Chr4:54289089 [GRCh38]
Chr4:55155256 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2540C>A (p.Ser847Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001876508] Chr4:54285941 [GRCh38]
Chr4:55152108 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2212G>A (p.Asp738Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001874115]|Hereditary cancer-predisposing syndrome [RCV003289125] Chr4:54280371 [GRCh38]
Chr4:55146538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629C>T (p.Ala210Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001871378] Chr4:54264919 [GRCh38]
Chr4:55131086 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1189C>A (p.Gln397Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV002006812] Chr4:54270700 [GRCh38]
Chr4:55136867 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3182dup (p.Arg1062fs) duplication Gastrointestinal stromal tumor [RCV002009176] Chr4:54295182..54295183 [GRCh38]
Chr4:55161349..55161350 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2117A>G (p.Asp706Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001995618] Chr4:54278476 [GRCh38]
Chr4:55144643 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-6C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002005802] Chr4:54277890 [GRCh38]
Chr4:55144057 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.327G>C (p.Glu109Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002000573] Chr4:54261372 [GRCh38]
Chr4:55127539 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+2T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002000601] Chr4:54285965 [GRCh38]
Chr4:55152132 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3229_3242del (p.Gly1077fs) deletion Gastrointestinal stromal tumor [RCV002000716] Chr4:54295229..54295242 [GRCh38]
Chr4:55161396..55161409 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1531A>C (p.Asn511His) single nucleotide variant Gastrointestinal stromal tumor [RCV001866586] Chr4:54273703 [GRCh38]
Chr4:55139870 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1907G>C (p.Ser636Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001866595]|Hereditary cancer-predisposing syndrome [RCV002406931] Chr4:54277911 [GRCh38]
Chr4:55144078 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1317C>T (p.Gly439=) single nucleotide variant Gastrointestinal stromal tumor [RCV001863612] Chr4:54272473 [GRCh38]
Chr4:55138640 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1564C>T (p.Arg522Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001866947] Chr4:54274536 [GRCh38]
Chr4:55140703 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.202G>C (p.Asp68His) single nucleotide variant Gastrointestinal stromal tumor [RCV002025712] Chr4:54261247 [GRCh38]
Chr4:55127414 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.196A>C (p.Ser66Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001867358] Chr4:54261241 [GRCh38]
Chr4:55127408 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.425A>T (p.Asp142Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001867463]|Hereditary cancer-predisposing syndrome [RCV003164188] Chr4:54263724 [GRCh38]
Chr4:55129891 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.841A>G (p.Thr281Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001872412] Chr4:54267370 [GRCh38]
Chr4:55133537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.759+17C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001876757] Chr4:54265066 [GRCh38]
Chr4:55131233 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1689A>C (p.Glu563Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002028175] Chr4:54274876 [GRCh38]
Chr4:55141043 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1183G>A (p.Val395Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001864987]|Hereditary cancer-predisposing syndrome [RCV002334753] Chr4:54270694 [GRCh38]
Chr4:55136861 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2026T>C (p.Tyr676His) single nucleotide variant Gastrointestinal stromal tumor [RCV002033547] Chr4:54278385 [GRCh38]
Chr4:55144552 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.367+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002040709] Chr4:54261417 [GRCh38]
Chr4:55127584 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.990T>G (p.His330Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV002015516] Chr4:54267610 [GRCh38]
Chr4:55133777 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2068A>G (p.Arg690Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002043405] Chr4:54278427 [GRCh38]
Chr4:55144594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2264C>T (p.Ser755Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV002043883]|Hereditary cancer-predisposing syndrome [RCV003289402] Chr4:54280423 [GRCh38]
Chr4:55146590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.157A>T (p.Ser53Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV002041329] Chr4:54261202 [GRCh38]
Chr4:55127369 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.730G>A (p.Asp244Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002045697]|Hereditary cancer-predisposing syndrome [RCV002386908]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475290] Chr4:54265020 [GRCh38]
Chr4:55131187 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2335A>G (p.Lys779Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002049838]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475108] Chr4:54285382 [GRCh38]
Chr4:55151549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.620C>T (p.Ala207Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002028522] Chr4:54263919 [GRCh38]
Chr4:55130086 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2351A>T (p.Asp784Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002031367] Chr4:54285398 [GRCh38]
Chr4:55151565 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3123C>G (p.Ser1041Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002008953] Chr4:54295125 [GRCh38]
Chr4:55161292 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1237+4T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002005054] Chr4:54270752 [GRCh38]
Chr4:55136919 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+14C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002035255] Chr4:54274639 [GRCh38]
Chr4:55140806 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2106G>C (p.Lys702Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002011558] Chr4:54278465 [GRCh38]
Chr4:55144632 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.92T>C (p.Leu31Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV002019551] Chr4:54261137 [GRCh38]
Chr4:55127304 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1030C>T (p.Pro344Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002017928] Chr4:54267650 [GRCh38]
Chr4:55133817 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2966T>G (p.Ile989Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002022039] Chr4:54290398 [GRCh38]
Chr4:55156565 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1780G>A (p.Val594Met) single nucleotide variant Gastrointestinal stromal tumor [RCV002024442] Chr4:54274967 [GRCh38]
Chr4:55141134 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.538G>T (p.Gly180Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV002020167] Chr4:54263837 [GRCh38]
Chr4:55130004 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2464C>T (p.Arg822Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV002026753] Chr4:54285865 [GRCh38]
Chr4:55152032 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2556A>G (p.Lys852=) single nucleotide variant Gastrointestinal stromal tumor [RCV002028842] Chr4:54285957 [GRCh38]
Chr4:55152124 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2048T>C (p.Val683Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002028904] Chr4:54278407 [GRCh38]
Chr4:55144574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2189A>T (p.Asp730Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002036241] Chr4:54280348 [GRCh38]
Chr4:55146515 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+17A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002040373] Chr4:54278532 [GRCh38]
Chr4:55144699 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3130A>G (p.Thr1044Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002045075] Chr4:54295132 [GRCh38]
Chr4:55161299 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.968A>C (p.Gln323Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV002046222] Chr4:54267588 [GRCh38]
Chr4:55133755 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1159G>C (p.Glu387Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV002047850]|Hereditary cancer-predisposing syndrome [RCV002370696] Chr4:54270670 [GRCh38]
Chr4:55136837 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001997687] Chr4:54289115 [GRCh38]
Chr4:55155282 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2162T>G (p.Val721Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002048856] Chr4:54280321 [GRCh38]
Chr4:55146488 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3256G>T (p.Asp1086Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV002049261]|Hereditary cancer-predisposing syndrome [RCV003164044] Chr4:54295258 [GRCh38]
Chr4:55161425 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1486A>T (p.Thr496Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002004472] Chr4:54273658 [GRCh38]
Chr4:55139825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1055A>G (p.Asn352Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002050460] Chr4:54267675 [GRCh38]
Chr4:55133842 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2058G>C (p.Leu686Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV002008023] Chr4:54278417 [GRCh38]
Chr4:55144584 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+5A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002014412] Chr4:54274630 [GRCh38]
Chr4:55140797 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2490A>C (p.Lys830Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002023140] Chr4:54285891 [GRCh38]
Chr4:55152058 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2336_2341del (p.Lys779_Leu781delinsIle) deletion Gastrointestinal stromal tumor [RCV002020614] Chr4:54285383..54285388 [GRCh38]
Chr4:55151550..55151555 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.425A>G (p.Asp142Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002021042] Chr4:54263724 [GRCh38]
Chr4:55129891 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.998A>G (p.Lys333Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002026543]|Hereditary cancer-predisposing syndrome [RCV002386913] Chr4:54267618 [GRCh38]
Chr4:55133785 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.770G>T (p.Gly257Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002026813]|Hereditary cancer-predisposing syndrome [RCV002398113] Chr4:54267299 [GRCh38]
Chr4:55133466 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2558G>C (p.Gly853Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002027217] Chr4:54285959 [GRCh38]
Chr4:55152126 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1717A>T (p.Ile573Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV002033320] Chr4:54274904 [GRCh38]
Chr4:55141071 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-7C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002036470] Chr4:54278355 [GRCh38]
Chr4:55144522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.496G>T (p.Gly166Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV002009721] Chr4:54263795 [GRCh38]
Chr4:55129962 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1067T>C (p.Leu356Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001999004] Chr4:54267687 [GRCh38]
Chr4:55133854 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1650A>T (p.Lys550Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002037400] Chr4:54274622 [GRCh38]
Chr4:55140789 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1066C>G (p.Leu356Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002039153] Chr4:54267686 [GRCh38]
Chr4:55133853 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.813G>A (p.Leu271=) single nucleotide variant Gastrointestinal stromal tumor [RCV002005722] Chr4:54267342 [GRCh38]
Chr4:55133509 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.495G>C (p.Glu165Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002013533] Chr4:54263794 [GRCh38]
Chr4:55129961 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.875C>G (p.Ala292Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002013719]|Hereditary cancer-predisposing syndrome [RCV002370703] Chr4:54267404 [GRCh38]
Chr4:55133571 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3185G>T (p.Arg1062Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002042866] Chr4:54295187 [GRCh38]
Chr4:55161354 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.728T>C (p.Val243Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002005783] Chr4:54265018 [GRCh38]
Chr4:55131185 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.337G>A (p.Glu113Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV002016066] Chr4:54261382 [GRCh38]
Chr4:55127549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.809A>G (p.Lys270Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002018590]|Hereditary cancer-predisposing syndrome [RCV002423264] Chr4:54267338 [GRCh38]
Chr4:55133505 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3177C>A (p.Phe1059Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002018654] Chr4:54295179 [GRCh38]
Chr4:55161346 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3082G>A (p.Val1028Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002010306] Chr4:54290514 [GRCh38]
Chr4:55156681 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.994G>A (p.Val332Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002010592] Chr4:54267614 [GRCh38]
Chr4:55133781 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2284T>C (p.Tyr762His) single nucleotide variant Gastrointestinal stromal tumor [RCV002016174] Chr4:54280443 [GRCh38]
Chr4:55146610 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1274A>T (p.His425Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002017633]|Hereditary cancer-predisposing syndrome [RCV002443044] Chr4:54272430 [GRCh38]
Chr4:55138597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2410C>T (p.Arg804Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV002019832] Chr4:54285457 [GRCh38]
Chr4:55151624 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2564C>A (p.Thr855Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002030093] Chr4:54287431 [GRCh38]
Chr4:55153598 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2517G>A (p.Leu839=) single nucleotide variant Gastrointestinal stromal tumor [RCV002022532]|Hereditary cancer-predisposing syndrome [RCV002425399] Chr4:54285918 [GRCh38]
Chr4:55152085 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1 copy number loss not provided [RCV001829079] Chr4:52685685..58104722 [GRCh37]
Chr4:4q11-12		 pathogenic
NM_006206.6(PDGFRA):c.1946C>T (p.Thr649Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001953261] Chr4:54277950 [GRCh38]
Chr4:55144117 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1180A>G (p.Ile394Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001899175] Chr4:54270691 [GRCh38]
Chr4:55136858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2344C>T (p.Leu782Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001986285] Chr4:54285391 [GRCh38]
Chr4:55151558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3143G>A (p.Ser1048Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001986727]|Hereditary cancer-predisposing syndrome [RCV002324458] Chr4:54295145 [GRCh38]
Chr4:55161312 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.935A>C (p.Lys312Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001987217] Chr4:54267555 [GRCh38]
Chr4:55133722 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2245A>C (p.Lys749Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001930651] Chr4:54280404 [GRCh38]
Chr4:55146571 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124936)_(57798318_?)dup duplication TMEM165-congenital disorder of glycosylation [RCV003120758]|not provided [RCV001944395] Chr4:55124936..57798318 [GRCh37]
Chr4:4q12		 uncertain significance|no classifications from unflagged records
NM_006206.6(PDGFRA):c.368-7dup duplication Gastrointestinal stromal tumor [RCV001879320] Chr4:54263657..54263658 [GRCh38]
Chr4:55129824..55129825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.442A>G (p.Ile148Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001935991] Chr4:54263741 [GRCh38]
Chr4:55129908 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.631A>C (p.Thr211Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001912405] Chr4:54264921 [GRCh38]
Chr4:55131088 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55094349)_(55604723_?)del deletion Gastrointestinal stromal tumor [RCV001941991] Chr4:55094349..55604723 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.1962T>A (p.His654Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001886138]|Hereditary cancer-predisposing syndrome [RCV002422955]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475140] Chr4:54277966 [GRCh38]
Chr4:55144133 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1783C>T (p.Leu595Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001886702] Chr4:54274970 [GRCh38]
Chr4:55141137 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.910A>T (p.Lys304Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001918242] Chr4:54267439 [GRCh38]
Chr4:55133606 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1569T>C (p.Ser523=) single nucleotide variant Gastrointestinal stromal tumor [RCV001946882] Chr4:54274541 [GRCh38]
Chr4:55140708 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001890497] Chr4:54267480 [GRCh38]
Chr4:55133647 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1015G>T (p.Val339Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001952751] Chr4:54267635 [GRCh38]
Chr4:55133802 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3250G>A (p.Val1084Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001893459] Chr4:54295252 [GRCh38]
Chr4:55161419 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2162T>A (p.Val721Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001979230] Chr4:54280321 [GRCh38]
Chr4:55146488 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3122G>A (p.Ser1041Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001980466] Chr4:54290554 [GRCh38]
Chr4:55156721 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.527_528del (p.Gln176fs) deletion Gastrointestinal stromal tumor [RCV001956569] Chr4:54263826..54263827 [GRCh38]
Chr4:55129993..55129994 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1786+11T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001949943] Chr4:54274984 [GRCh38]
Chr4:55141151 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.704G>C (p.Cys235Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001895077] Chr4:54264994 [GRCh38]
Chr4:55131161 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.392T>C (p.Leu131Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001952379] Chr4:54263691 [GRCh38]
Chr4:55129858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1847G>A (p.Ser616Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001984703] Chr4:54277448 [GRCh38]
Chr4:55143615 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1089C>G (p.Ile363Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001900153]|Hereditary cancer-predisposing syndrome [RCV003164140] Chr4:54267709 [GRCh38]
Chr4:55133876 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2250G>T (p.Glu750Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001899952] Chr4:54280409 [GRCh38]
Chr4:55146576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.780G>T (p.Met260Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001902212] Chr4:54267309 [GRCh38]
Chr4:55133476 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3214A>T (p.Met1072Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001988240] Chr4:54295216 [GRCh38]
Chr4:55161383 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1777C>G (p.Leu593Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001989336]|Hereditary cancer-predisposing syndrome [RCV002398072] Chr4:54274964 [GRCh38]
Chr4:55141131 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1202C>T (p.Ala401Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001989571]|Hereditary cancer-predisposing syndrome [RCV002346260] Chr4:54270713 [GRCh38]
Chr4:55136880 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1633C>G (p.Leu545Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001905247] Chr4:54274605 [GRCh38]
Chr4:55140772 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1334T>C (p.Ile445Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001931840]|Hereditary cancer-predisposing syndrome [RCV003164129] Chr4:54272490 [GRCh38]
Chr4:55138657 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1238-18T>C single nucleotide variant Gastrointestinal stromal tumor [RCV001965507] Chr4:54272376 [GRCh38]
Chr4:55138543 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1557C>T (p.Pro519=) single nucleotide variant Gastrointestinal stromal tumor [RCV001966184] Chr4:54273729 [GRCh38]
Chr4:55139896 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.248C>G (p.Thr83Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001879246] Chr4:54261293 [GRCh38]
Chr4:55127460 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.794A>G (p.Lys265Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001932914]|Hereditary cancer-predisposing syndrome [RCV002423040] Chr4:54267323 [GRCh38]
Chr4:55133490 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.5G>A (p.Gly2Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001961963]|Hereditary cancer-predisposing syndrome [RCV002359312] Chr4:54258773 [GRCh38]
Chr4:55124940 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1750T>G (p.Ser584Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001879312]|Hereditary cancer-predisposing syndrome [RCV002406976]|not provided [RCV003442938] Chr4:54274937 [GRCh38]
Chr4:55141104 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1817A>G (p.Lys606Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001879568]|Hereditary cancer-predisposing syndrome [RCV002406978] Chr4:54277418 [GRCh38]
Chr4:55143585 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1520T>G (p.Leu507Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001906284] Chr4:54273692 [GRCh38]
Chr4:55139859 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.759G>T (p.Val253=) single nucleotide variant Gastrointestinal stromal tumor [RCV001934684] Chr4:54265049 [GRCh38]
Chr4:55131216 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1191A>C (p.Gln397His) single nucleotide variant Gastrointestinal stromal tumor [RCV001880687] Chr4:54270702 [GRCh38]
Chr4:55136869 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2963A>G (p.Tyr988Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001934808]|Hereditary cancer-predisposing syndrome [RCV002440936] Chr4:54290395 [GRCh38]
Chr4:55156562 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-10A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001965386] Chr4:54290303 [GRCh38]
Chr4:55156470 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3238T>C (p.Ser1080Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001937371] Chr4:54295240 [GRCh38]
Chr4:55161407 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.388C>T (p.Pro130Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001883601] Chr4:54263687 [GRCh38]
Chr4:55129854 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1172A>G (p.His391Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001884020] Chr4:54270683 [GRCh38]
Chr4:55136850 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559C>T (p.Thr520Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001914371]|Hereditary cancer-predisposing syndrome [RCV002397917] Chr4:54274531 [GRCh38]
Chr4:55140698 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2194A>C (p.Met732Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001885503] Chr4:54280353 [GRCh38]
Chr4:55146520 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV001915198] Chr4:54285968 [GRCh38]
Chr4:55152135 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2591C>T (p.Pro864Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001943809]|Hereditary cancer-predisposing syndrome [RCV003375449] Chr4:54287458 [GRCh38]
Chr4:55153625 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3112A>C (p.Asn1038His) single nucleotide variant Gastrointestinal stromal tumor [RCV001975862] Chr4:54290544 [GRCh38]
Chr4:55156711 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1768A>G (p.Arg590Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001886609] Chr4:54274955 [GRCh38]
Chr4:55141122 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2248G>A (p.Glu750Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001886378]|Hereditary cancer-predisposing syndrome [RCV003303280] Chr4:54280407 [GRCh38]
Chr4:55146574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2093C>A (p.Pro698Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001914739] Chr4:54278452 [GRCh38]
Chr4:55144619 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2614T>C (p.Tyr872His) single nucleotide variant Gastrointestinal stromal tumor [RCV001944691]|Hereditary cancer-predisposing syndrome [RCV002440940] Chr4:54287481 [GRCh38]
Chr4:55153648 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1146_1147insA (p.Arg383fs) insertion Gastrointestinal stromal tumor [RCV001973617] Chr4:54270657..54270658 [GRCh38]
Chr4:55136824..55136825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1069A>T (p.Ile357Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001917454] Chr4:54267689 [GRCh38]
Chr4:55133856 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2984A>G (p.Asn995Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001974085] Chr4:54290416 [GRCh38]
Chr4:55156583 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3120C>G (p.His1040Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001890273] Chr4:54290552 [GRCh38]
Chr4:55156719 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1634T>C (p.Leu545Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001918358]|Hereditary cancer-predisposing syndrome [RCV002397890] Chr4:54274606 [GRCh38]
Chr4:55140773 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.458C>G (p.Thr153Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001918746] Chr4:54263757 [GRCh38]
Chr4:55129924 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+20C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001980285] Chr4:54280502 [GRCh38]
Chr4:55146669 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.452G>C (p.Arg151Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001947124] Chr4:54263751 [GRCh38]
Chr4:55129918 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1495G>T (p.Val499Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001978348]|Hereditary cancer-predisposing syndrome [RCV002388997]|not provided [RCV003738123] Chr4:54273667 [GRCh38]
Chr4:55139834 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.196A>G (p.Ser66Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001923598]|Hereditary cancer-predisposing syndrome [RCV002423058] Chr4:54261241 [GRCh38]
Chr4:55127408 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1117A>G (p.Ile373Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001894305] Chr4:54267737 [GRCh38]
Chr4:55133904 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1780G>C (p.Val594Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001925981]|Hereditary cancer-predisposing syndrome [RCV003167162] Chr4:54274967 [GRCh38]
Chr4:55141134 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2563-3C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001954715] Chr4:54287427 [GRCh38]
Chr4:55153594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2178A>G (p.Glu726=) single nucleotide variant Gastrointestinal stromal tumor [RCV001985196] Chr4:54280337 [GRCh38]
Chr4:55146504 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.586A>G (p.Lys196Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001928800]|Hereditary cancer-predisposing syndrome [RCV003365570] Chr4:54263885 [GRCh38]
Chr4:55130052 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2732G>A (p.Ser911Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001929278]|Hereditary cancer-predisposing syndrome [RCV002441050] Chr4:54288856 [GRCh38]
Chr4:55155023 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.808A>C (p.Lys270Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001901789] Chr4:54267337 [GRCh38]
Chr4:55133504 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2356A>T (p.Asn786Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV001989118] Chr4:54285403 [GRCh38]
Chr4:55151570 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.332A>G (p.Glu111Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001960390] Chr4:54261377 [GRCh38]
Chr4:55127544 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2641T>A (p.Tyr881Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV001905227] Chr4:54287508 [GRCh38]
Chr4:55153675 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.959C>T (p.Thr320Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001931229]|Hereditary cancer-predisposing syndrome [RCV002386747] Chr4:54267579 [GRCh38]
Chr4:55133746 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2979C>G (p.Tyr993Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001905601] Chr4:54290411 [GRCh38]
Chr4:55156578 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.366A>G (p.Pro122=) single nucleotide variant Gastrointestinal stromal tumor [RCV001907320] Chr4:54261411 [GRCh38]
Chr4:55127578 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.760A>G (p.Lys254Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001934638]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475126] Chr4:54267289 [GRCh38]
Chr4:55133456 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1447A>T (p.Thr483Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001963952] Chr4:54273619 [GRCh38]
Chr4:55139786 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.362T>C (p.Val121Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001878683] Chr4:54261407 [GRCh38]
Chr4:55127574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1396G>T (p.Ala466Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001934730] Chr4:54273568 [GRCh38]
Chr4:55139735 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1840G>A (p.Gly614Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001966423]|Hereditary cancer-predisposing syndrome [RCV003303524] Chr4:54277441 [GRCh38]
Chr4:55143608 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1825G>A (p.Glu609Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001910492] Chr4:54277426 [GRCh38]
Chr4:55143593 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1002T>G (p.His334Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001936457] Chr4:54267622 [GRCh38]
Chr4:55133789 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+6C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001966473] Chr4:54278012 [GRCh38]
Chr4:55144179 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.446C>G (p.Pro149Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001908614] Chr4:54263745 [GRCh38]
Chr4:55129912 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1753A>G (p.Arg585Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001938821] Chr4:54274940 [GRCh38]
Chr4:55141107 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1597G>C (p.Val533Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001940430] Chr4:54274569 [GRCh38]
Chr4:55140736 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2066A>G (p.Asn689Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001970574] Chr4:54278425 [GRCh38]
Chr4:55144592 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1271A>C (p.His424Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001970584] Chr4:54272427 [GRCh38]
Chr4:55138594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2867G>A (p.Gly956Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001912619] Chr4:54289101 [GRCh38]
Chr4:55155268 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1963T>A (p.Leu655Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001913284] Chr4:54277967 [GRCh38]
Chr4:55144134 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2729A>G (p.Lys910Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001940799] Chr4:54288853 [GRCh38]
Chr4:55155020 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1415TCA[1] (p.Ile473del) microsatellite Gastrointestinal stromal tumor [RCV001884605] Chr4:54273585..54273587 [GRCh38]
Chr4:55139752..55139754 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55094349)_(55143669_?)dup duplication Gastrointestinal stromal tumor [RCV001942965] Chr4:55094349..55143669 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2563-16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV001972850] Chr4:54287414 [GRCh38]
Chr4:55153581 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.722A>G (p.Glu241Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV001886916] Chr4:54265012 [GRCh38]
Chr4:55131179 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2395A>G (p.Thr799Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001944038] Chr4:54285442 [GRCh38]
Chr4:55151609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2396C>T (p.Thr799Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001944902] Chr4:54285443 [GRCh38]
Chr4:55151610 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.911A>G (p.Lys304Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001975387] Chr4:54267440 [GRCh38]
Chr4:55133607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.621T>C (p.Ala207=) single nucleotide variant Gastrointestinal stromal tumor [RCV001975483] Chr4:54263920 [GRCh38]
Chr4:55130087 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-5A>G single nucleotide variant Gastrointestinal stromal tumor [RCV001945579] Chr4:54270628 [GRCh38]
Chr4:55136795 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1735C>T (p.Gln579Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001976041] Chr4:54274922 [GRCh38]
Chr4:55141089 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2615A>G (p.Tyr872Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV001976807] Chr4:54287482 [GRCh38]
Chr4:55153649 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1597G>T (p.Val533Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001976901]|Hereditary cancer-predisposing syndrome [RCV003170337] Chr4:54274569 [GRCh38]
Chr4:55140736 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1534C>T (p.Arg512Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV001919345] Chr4:54273706 [GRCh38]
Chr4:55139873 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.184T>C (p.Ser62Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV001947891] Chr4:54261229 [GRCh38]
Chr4:55127396 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2243G>A (p.Arg748Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001947941] Chr4:54280402 [GRCh38]
Chr4:55146569 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1636G>T (p.Val546Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001892998] Chr4:54274608 [GRCh38]
Chr4:55140775 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2981A>G (p.Lys994Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV001979502]|Hereditary cancer-predisposing syndrome [RCV002441117] Chr4:54290413 [GRCh38]
Chr4:55156580 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.894G>C (p.Glu298Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV001976425] Chr4:54267423 [GRCh38]
Chr4:55133590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1526C>T (p.Ala509Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001934766] Chr4:54273698 [GRCh38]
Chr4:55139865 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.567T>C (p.Cys189=) single nucleotide variant Gastrointestinal stromal tumor [RCV001956341] Chr4:54263866 [GRCh38]
Chr4:55130033 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2673T>C (p.Leu891=) single nucleotide variant Gastrointestinal stromal tumor [RCV001918524]|Hereditary cancer-predisposing syndrome [RCV002425226] Chr4:54287540 [GRCh38]
Chr4:55153707 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.3106A>G (p.Lys1036Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001900045] Chr4:54290538 [GRCh38]
Chr4:55156705 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50G>A (p.Gly17Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001958100] Chr4:54261095 [GRCh38]
Chr4:55127262 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2563A>G (p.Thr855Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001980060] Chr4:54287430 [GRCh38]
Chr4:55153597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.760-14C>A single nucleotide variant Gastrointestinal stromal tumor [RCV001879090] Chr4:54267275 [GRCh38]
Chr4:55133442 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2075G>T (p.Ser692Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001938024] Chr4:54278434 [GRCh38]
Chr4:55144601 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3191A>T (p.Asp1064Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001941246] Chr4:54295193 [GRCh38]
Chr4:55161360 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1114G>A (p.Glu372Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001960991] Chr4:54267734 [GRCh38]
Chr4:55133901 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-10T>G single nucleotide variant Gastrointestinal stromal tumor [RCV001979647] Chr4:54274521 [GRCh38]
Chr4:55140688 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2432C>T (p.Ser811Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV001906472] Chr4:54285479 [GRCh38]
Chr4:55151646 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1606G>A (p.Val536Met) single nucleotide variant Gastrointestinal stromal tumor [RCV001984538] Chr4:54274578 [GRCh38]
Chr4:55140745 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3139G>C (p.Glu1047Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001983192] Chr4:54295141 [GRCh38]
Chr4:55161308 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3253G>A (p.Glu1085Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001966208] Chr4:54295255 [GRCh38]
Chr4:55161422 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.526C>G (p.Gln176Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001967339] Chr4:54263825 [GRCh38]
Chr4:55129992 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3181A>G (p.Lys1061Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV001886399]|Hereditary cancer-predisposing syndrome [RCV002324275] Chr4:54295183 [GRCh38]
Chr4:55161350 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2695A>G (p.Met899Val) single nucleotide variant Gastrointestinal stromal tumor [RCV001886617] Chr4:54288819 [GRCh38]
Chr4:55154986 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1537G>A (p.Glu513Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001967187] Chr4:54273709 [GRCh38]
Chr4:55139876 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2110G>C (p.Glu704Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV001888045] Chr4:54278469 [GRCh38]
Chr4:55144636 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3188_3189del (p.Glu1063fs) microsatellite Gastrointestinal stromal tumor [RCV001889637] Chr4:54295184..54295185 [GRCh38]
Chr4:55161351..55161352 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.407A>T (p.Tyr136Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV001911074] Chr4:54263706 [GRCh38]
Chr4:55129873 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1699C>T (p.Pro567Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV001968088] Chr4:54274886 [GRCh38]
Chr4:55141053 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.29T>C (p.Val10Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV001971543] Chr4:54258797 [GRCh38]
Chr4:55124964 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3010G>A (p.Glu1004Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV001930139] Chr4:54290442 [GRCh38]
Chr4:55156609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2957A>T (p.Asn986Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV001890362] Chr4:54290389 [GRCh38]
Chr4:55156556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2977T>C (p.Tyr993His) single nucleotide variant Gastrointestinal stromal tumor [RCV001952140]|Hereditary cancer-predisposing syndrome [RCV003289231] Chr4:54290409 [GRCh38]
Chr4:55156576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.9T>C (p.Thr3=) single nucleotide variant Gastrointestinal stromal tumor [RCV001975497] Chr4:54258777 [GRCh38]
Chr4:55124944 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2932G>A (p.Ala978Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV001890930] Chr4:54290364 [GRCh38]
Chr4:55156531 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+19T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002187487] Chr4:54272539 [GRCh38]
Chr4:55138706 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-11C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002128138] Chr4:54285360 [GRCh38]
Chr4:55151527 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.367+19C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002111883] Chr4:54261431 [GRCh38]
Chr4:55127598 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-19T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002105364] Chr4:54288990 [GRCh38]
Chr4:55155157 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.471T>C (p.Thr157=) single nucleotide variant Gastrointestinal stromal tumor [RCV002190325] Chr4:54263770 [GRCh38]
Chr4:55129937 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1092C>T (p.Thr364=) single nucleotide variant Gastrointestinal stromal tumor [RCV002209163] Chr4:54267712 [GRCh38]
Chr4:55133879 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-14T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002087640] Chr4:54295111 [GRCh38]
Chr4:55161278 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002188885] Chr4:54265061 [GRCh38]
Chr4:55131228 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+7A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002129078] Chr4:54267748 [GRCh38]
Chr4:55133915 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.294C>T (p.Tyr98=) single nucleotide variant Gastrointestinal stromal tumor [RCV002075849] Chr4:54261339 [GRCh38]
Chr4:55127506 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.657A>G (p.Glu219=) single nucleotide variant Gastrointestinal stromal tumor [RCV002205959] Chr4:54264947 [GRCh38]
Chr4:55131114 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+12A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002207295] Chr4:54258829 [GRCh38]
Chr4:55124996 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+7G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002190890] Chr4:54290561 [GRCh38]
Chr4:55156728 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2955C>T (p.Asp985=) single nucleotide variant Gastrointestinal stromal tumor [RCV002210793]|Hereditary cancer-predisposing syndrome [RCV002434598] Chr4:54290387 [GRCh38]
Chr4:55156554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002104659] Chr4:54263942 [GRCh38]
Chr4:55130109 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+17T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002091227] Chr4:54270765 [GRCh38]
Chr4:55136932 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.84C>T (p.Pro28=) single nucleotide variant Gastrointestinal stromal tumor [RCV002169015]|Hereditary cancer-predisposing syndrome [RCV002409595] Chr4:54261129 [GRCh38]
Chr4:55127296 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-14dup duplication Gastrointestinal stromal tumor [RCV002206031] Chr4:54288783..54288784 [GRCh38]
Chr4:55154950..55154951 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1104A>G (p.Glu368=) single nucleotide variant Gastrointestinal stromal tumor [RCV002108862]|Hereditary cancer-predisposing syndrome [RCV002427684] Chr4:54267724 [GRCh38]
Chr4:55133891 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-5dup duplication Gastrointestinal stromal tumor [RCV002089125] Chr4:54264908..54264909 [GRCh38]
Chr4:55131075..55131076 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.50-16G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002087807] Chr4:54261079 [GRCh38]
Chr4:55127246 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002091071] Chr4:54285503 [GRCh38]
Chr4:55151670 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-20T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002107906] Chr4:54288779 [GRCh38]
Chr4:55154946 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-16dup duplication Gastrointestinal stromal tumor [RCV002209615] Chr4:54270613..54270614 [GRCh38]
Chr4:55136780..55136781 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2022A>T (p.Thr674=) single nucleotide variant Gastrointestinal stromal tumor [RCV002164817] Chr4:54278381 [GRCh38]
Chr4:55144548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2826C>T (p.Ser942=) single nucleotide variant Gastrointestinal stromal tumor [RCV002206430] Chr4:54289060 [GRCh38]
Chr4:55155227 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1227G>C (p.Leu409=) single nucleotide variant Gastrointestinal stromal tumor [RCV002187470] Chr4:54270738 [GRCh38]
Chr4:55136905 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002111352] Chr4:54288999 [GRCh38]
Chr4:55155166 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1600C>T (p.Leu534=) single nucleotide variant Gastrointestinal stromal tumor [RCV002191649] Chr4:54274572 [GRCh38]
Chr4:55140739 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2472C>A (p.Val824=) single nucleotide variant Gastrointestinal stromal tumor [RCV002074990] Chr4:54285873 [GRCh38]
Chr4:55152040 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.753A>G (p.Gly251=) single nucleotide variant Gastrointestinal stromal tumor [RCV002090151]|Hereditary cancer-predisposing syndrome [RCV002391153] Chr4:54265043 [GRCh38]
Chr4:55131210 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1947T>C (p.Thr649=) single nucleotide variant Gastrointestinal stromal tumor [RCV002125269] Chr4:54277951 [GRCh38]
Chr4:55144118 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.58C>T (p.Leu20=) single nucleotide variant Gastrointestinal stromal tumor [RCV002169398] Chr4:54261103 [GRCh38]
Chr4:55127270 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-16G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002071678] Chr4:54261079 [GRCh38]
Chr4:55127246 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2382T>C (p.Asp794=) single nucleotide variant Gastrointestinal stromal tumor [RCV002187500]|Hereditary cancer-predisposing syndrome [RCV002454374] Chr4:54285429 [GRCh38]
Chr4:55151596 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.498G>A (p.Gly166=) single nucleotide variant Gastrointestinal stromal tumor [RCV002210139]|Hereditary cancer-predisposing syndrome [RCV002337233] Chr4:54263797 [GRCh38]
Chr4:55129964 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2121C>T (p.Ile707=) single nucleotide variant Gastrointestinal stromal tumor [RCV002169364] Chr4:54278480 [GRCh38]
Chr4:55144647 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-7T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002191902] Chr4:54264912 [GRCh38]
Chr4:55131079 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653+7A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002145373] Chr4:54274632 [GRCh38]
Chr4:55140799 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002187635] Chr4:54265066 [GRCh38]
Chr4:55131233 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+13A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002071682] Chr4:54280495 [GRCh38]
Chr4:55146662 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3123-11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002106399] Chr4:54295114 [GRCh38]
Chr4:55161281 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1892-16T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002105114] Chr4:54277880 [GRCh38]
Chr4:55144047 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-16A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002108611] Chr4:54288993 [GRCh38]
Chr4:55155160 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1830A>C (p.Gly610=) single nucleotide variant Gastrointestinal stromal tumor [RCV002165355]|Hereditary cancer-predisposing syndrome [RCV003161364] Chr4:54277431 [GRCh38]
Chr4:55143598 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1314A>G (p.Glu438=) single nucleotide variant Gastrointestinal stromal tumor [RCV002205115]|Hereditary cancer-predisposing syndrome [RCV002382309] Chr4:54272470 [GRCh38]
Chr4:55138637 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-11G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002084863] Chr4:54274830 [GRCh38]
Chr4:55140997 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1005T>C (p.Phe335=) single nucleotide variant Gastrointestinal stromal tumor [RCV002072577] Chr4:54267625 [GRCh38]
Chr4:55133792 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2958T>C (p.Asn986=) single nucleotide variant Gastrointestinal stromal tumor [RCV002128901] Chr4:54290390 [GRCh38]
Chr4:55156557 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002165646] Chr4:54285834 [GRCh38]
Chr4:55152001 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+17T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002111488] Chr4:54280499 [GRCh38]
Chr4:55146666 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.264C>T (p.Ser88=) single nucleotide variant Gastrointestinal stromal tumor [RCV002167171] Chr4:54261309 [GRCh38]
Chr4:55127476 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.600C>T (p.Thr200=) single nucleotide variant Gastrointestinal stromal tumor [RCV002206779]|Hereditary cancer-predisposing syndrome [RCV002352806] Chr4:54263899 [GRCh38]
Chr4:55130066 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002086650] Chr4:54261085 [GRCh38]
Chr4:55127252 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2622A>T (p.Thr874=) single nucleotide variant Gastrointestinal stromal tumor [RCV002127575] Chr4:54287489 [GRCh38]
Chr4:55153656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002146240] Chr4:54295118 [GRCh38]
Chr4:55161285 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+19C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002072814] Chr4:54274992 [GRCh38]
Chr4:55141159 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3162C>T (p.Ser1054=) single nucleotide variant Gastrointestinal stromal tumor [RCV002191641] Chr4:54295164 [GRCh38]
Chr4:55161331 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-8T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002206750] Chr4:54264911 [GRCh38]
Chr4:55131078 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-16G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002111369] Chr4:54278346 [GRCh38]
Chr4:55144513 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+16_49+41del deletion Gastrointestinal stromal tumor [RCV002165024] Chr4:54258830..54258855 [GRCh38]
Chr4:55124997..55125022 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002125414] Chr4:54288907 [GRCh38]
Chr4:55155074 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-68dup duplication not provided [RCV002226057] Chr4:54264834..54264835 [GRCh38]
Chr4:55131001..55131002 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.129A>C (p.Ser43=) single nucleotide variant Gastrointestinal stromal tumor [RCV002169854] Chr4:54261174 [GRCh38]
Chr4:55127341 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+20G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002129426] Chr4:54265069 [GRCh38]
Chr4:55131236 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+19T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002088650] Chr4:54265068 [GRCh38]
Chr4:55131235 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-13C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002105185] Chr4:54267539 [GRCh38]
Chr4:55133706 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-8A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002085367] Chr4:54274833 [GRCh38]
Chr4:55141000 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.273G>T (p.Ser91=) single nucleotide variant Gastrointestinal stromal tumor [RCV002106143] Chr4:54261318 [GRCh38]
Chr4:55127485 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1892-13A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002130155] Chr4:54277883 [GRCh38]
Chr4:55144050 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+14C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002108337] Chr4:54277506 [GRCh38]
Chr4:55143673 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2220A>G (p.Thr740=) single nucleotide variant Gastrointestinal stromal tumor [RCV002172502] Chr4:54280379 [GRCh38]
Chr4:55146546 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2376A>G (p.Leu792=) single nucleotide variant Gastrointestinal stromal tumor [RCV002213259] Chr4:54285423 [GRCh38]
Chr4:55151590 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1995C>A (p.Thr665=) single nucleotide variant Gastrointestinal stromal tumor [RCV002096685]|Hereditary cancer-predisposing syndrome [RCV002416427] Chr4:54277999 [GRCh38]
Chr4:55144166 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.960C>T (p.Thr320=) single nucleotide variant Gastrointestinal stromal tumor [RCV002094084] Chr4:54267580 [GRCh38]
Chr4:55133747 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2724G>A (p.Lys908=) single nucleotide variant Gastrointestinal stromal tumor [RCV002170982]|Hereditary cancer-predisposing syndrome [RCV002427669] Chr4:54288848 [GRCh38]
Chr4:55155015 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+16A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002193503] Chr4:54285502 [GRCh38]
Chr4:55151669 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002194952] Chr4:54267753 [GRCh38]
Chr4:55133920 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-5CA[3] microsatellite Gastrointestinal stromal tumor [RCV002196662] Chr4:54289003..54289004 [GRCh38]
Chr4:55155170..55155171 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2880+19G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002197251] Chr4:54289133 [GRCh38]
Chr4:55155300 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-12C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002087845] Chr4:54274519 [GRCh38]
Chr4:55140686 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-11T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002112968] Chr4:54261084 [GRCh38]
Chr4:55127251 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-25_2881-17del deletion Gastrointestinal stromal tumor [RCV002095101] Chr4:54290286..54290294 [GRCh38]
Chr4:55156453..55156461 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.687A>G (p.Glu229=) single nucleotide variant Gastrointestinal stromal tumor [RCV002116544] Chr4:54264977 [GRCh38]
Chr4:55131144 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002129402] Chr4:54272379 [GRCh38]
Chr4:55138546 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002111251] Chr4:54270763 [GRCh38]
Chr4:55136930 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.390T>G (p.Pro130=) single nucleotide variant Gastrointestinal stromal tumor [RCV002170272]|PDGFRA-related condition [RCV003950887] Chr4:54263689 [GRCh38]
Chr4:55129856 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.108A>G (p.Glu36=) single nucleotide variant Gastrointestinal stromal tumor [RCV002093277] Chr4:54261153 [GRCh38]
Chr4:55127320 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+16C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002167370] Chr4:54280498 [GRCh38]
Chr4:55146665 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002214963] Chr4:54285501 [GRCh38]
Chr4:55151668 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-7del deletion Gastrointestinal stromal tumor [RCV002116109] Chr4:54285361 [GRCh38]
Chr4:55151528 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1364+13G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002134053] Chr4:54272533 [GRCh38]
Chr4:55138700 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+12A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002130890] Chr4:54258829 [GRCh38]
Chr4:55124996 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+19G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002077117] Chr4:54277511 [GRCh38]
Chr4:55143678 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-8A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002117314] Chr4:54263659 [GRCh38]
Chr4:55129826 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1707A>G (p.Gly569=) single nucleotide variant Gastrointestinal stromal tumor [RCV002171878] Chr4:54274894 [GRCh38]
Chr4:55141061 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+21_3122+26del deletion Gastrointestinal stromal tumor [RCV002134126] Chr4:54290573..54290578 [GRCh38]
Chr4:55156740..55156745 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+18C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002187585] Chr4:54288916 [GRCh38]
Chr4:55155083 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.963C>T (p.Phe321=) single nucleotide variant Gastrointestinal stromal tumor [RCV002195391] Chr4:54267583 [GRCh38]
Chr4:55133750 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1617C>A (p.Ile539=) single nucleotide variant Gastrointestinal stromal tumor [RCV002195915] Chr4:54274589 [GRCh38]
Chr4:55140756 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1806A>G (p.Gly602=) single nucleotide variant Gastrointestinal stromal tumor [RCV002197346] Chr4:54277407 [GRCh38]
Chr4:55143574 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1638T>C (p.Val546=) single nucleotide variant Gastrointestinal stromal tumor [RCV002150535] Chr4:54274610 [GRCh38]
Chr4:55140777 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-20C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002105112] Chr4:54274821 [GRCh38]
Chr4:55140988 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002116876] Chr4:54277368 [GRCh38]
Chr4:55143535 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1787-11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002153822] Chr4:54277377 [GRCh38]
Chr4:55143544 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-19T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002193641] Chr4:54295106 [GRCh38]
Chr4:55161273 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1761G>A (p.Glu587=) single nucleotide variant Gastrointestinal stromal tumor [RCV002149988] Chr4:54274948 [GRCh38]
Chr4:55141115 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.969G>A (p.Gln323=) single nucleotide variant Gastrointestinal stromal tumor [RCV002151148] Chr4:54267589 [GRCh38]
Chr4:55133756 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002151898] Chr4:54277370 [GRCh38]
Chr4:55143537 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-15G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002094576] Chr4:54288994 [GRCh38]
Chr4:55155161 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+33_1891+49dup duplication Gastrointestinal stromal tumor [RCV002131067] Chr4:54277508..54277509 [GRCh38]
Chr4:55143675..55143676 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.840C>A (p.Ala280=) single nucleotide variant Gastrointestinal stromal tumor [RCV002196091] Chr4:54267369 [GRCh38]
Chr4:55133536 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1933C>T (p.Leu645=) single nucleotide variant Gastrointestinal stromal tumor [RCV002153445] Chr4:54277937 [GRCh38]
Chr4:55144104 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002096469] Chr4:54263647 [GRCh38]
Chr4:55129814 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.498G>C (p.Gly166=) single nucleotide variant Gastrointestinal stromal tumor [RCV002079463]|Hereditary cancer-predisposing syndrome [RCV002337314] Chr4:54263797 [GRCh38]
Chr4:55129964 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002076511] Chr4:54277510 [GRCh38]
Chr4:55143677 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+16T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002092685] Chr4:54277508 [GRCh38]
Chr4:55143675 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002211469] Chr4:54285506 [GRCh38]
Chr4:55151673 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002093980] Chr4:54287559 [GRCh38]
Chr4:55153726 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002185528] Chr4:54278344 [GRCh38]
Chr4:55144511 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.396A>G (p.Gly132=) single nucleotide variant Gastrointestinal stromal tumor [RCV002146377]|Hereditary cancer-predisposing syndrome [RCV002352921] Chr4:54263695 [GRCh38]
Chr4:55129862 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2880+13C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002215435] Chr4:54289127 [GRCh38]
Chr4:55155294 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.300C>T (p.Cys100=) single nucleotide variant Gastrointestinal stromal tumor [RCV002169302] Chr4:54261345 [GRCh38]
Chr4:55127512 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-13C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002164991] Chr4:54261082 [GRCh38]
Chr4:55127249 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+20G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002110016] Chr4:54265069 [GRCh38]
Chr4:55131236 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-14T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002113576] Chr4:54278348 [GRCh38]
Chr4:55144515 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.970T>C (p.Leu324=) single nucleotide variant Gastrointestinal stromal tumor [RCV002150608]|Hereditary cancer-predisposing syndrome [RCV002372995] Chr4:54267590 [GRCh38]
Chr4:55133757 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.600C>A (p.Thr200=) single nucleotide variant Gastrointestinal stromal tumor [RCV002091790] Chr4:54263899 [GRCh38]
Chr4:55130066 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.504A>G (p.Val168=) single nucleotide variant Gastrointestinal stromal tumor [RCV002107237]|Hereditary cancer-predisposing syndrome [RCV002346416] Chr4:54263803 [GRCh38]
Chr4:55129970 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+11A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002093763] Chr4:54285974 [GRCh38]
Chr4:55152141 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+14C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002080356] Chr4:54267755 [GRCh38]
Chr4:55133922 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-11T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002093199] Chr4:54285830 [GRCh38]
Chr4:55151997 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+20A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002113695] Chr4:54285506 [GRCh38]
Chr4:55151673 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+12G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002095041] Chr4:54290566 [GRCh38]
Chr4:55156733 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-17G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002113739] Chr4:54273520 [GRCh38]
Chr4:55139687 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002079257] Chr4:54267751 [GRCh38]
Chr4:55133918 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.843G>C (p.Thr281=) single nucleotide variant Gastrointestinal stromal tumor [RCV002132860] Chr4:54267372 [GRCh38]
Chr4:55133539 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.798C>T (p.Val266=) single nucleotide variant Gastrointestinal stromal tumor [RCV002152115]|Hereditary cancer-predisposing syndrome [RCV002416449] Chr4:54267327 [GRCh38]
Chr4:55133494 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-19T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002213707] Chr4:54264900 [GRCh38]
Chr4:55131067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-11T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002194627] Chr4:54267541 [GRCh38]
Chr4:55133708 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653+13T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002199365] Chr4:54274638 [GRCh38]
Chr4:55140805 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653+15A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002103499] Chr4:54274640 [GRCh38]
Chr4:55140807 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002121218] Chr4:54290574 [GRCh38]
Chr4:55156741 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.222A>G (p.Glu74=) single nucleotide variant Gastrointestinal stromal tumor [RCV002155559] Chr4:54261267 [GRCh38]
Chr4:55127434 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-18A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002081193] Chr4:54264901 [GRCh38]
Chr4:55131068 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002220135] Chr4:54288916 [GRCh38]
Chr4:55155083 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-19T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002179127] Chr4:54277369 [GRCh38]
Chr4:55143536 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.876C>T (p.Ala292=) single nucleotide variant Gastrointestinal stromal tumor [RCV002175313]|Hereditary cancer-predisposing syndrome [RCV002372852] Chr4:54267405 [GRCh38]
Chr4:55133572 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.378A>C (p.Val126=) single nucleotide variant Gastrointestinal stromal tumor [RCV002154085] Chr4:54263677 [GRCh38]
Chr4:55129844 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002155989] Chr4:54278523 [GRCh38]
Chr4:55144690 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.453C>T (p.Arg151=) single nucleotide variant Gastrointestinal stromal tumor [RCV002157783]|Hereditary cancer-predisposing syndrome [RCV002337309] Chr4:54263752 [GRCh38]
Chr4:55129919 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-16A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002098323] Chr4:54270617 [GRCh38]
Chr4:55136784 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3057C>A (p.Ile1019=) single nucleotide variant Gastrointestinal stromal tumor [RCV002141422] Chr4:54290489 [GRCh38]
Chr4:55156656 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-13C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002156556] Chr4:54295112 [GRCh38]
Chr4:55161279 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1098T>C (p.Asp366=) single nucleotide variant Gastrointestinal stromal tumor [RCV002120180] Chr4:54267718 [GRCh38]
Chr4:55133885 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2499G>A (p.Lys833=) single nucleotide variant Gastrointestinal stromal tumor [RCV002141711] Chr4:54285900 [GRCh38]
Chr4:55152067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-16G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002198571] Chr4:54278346 [GRCh38]
Chr4:55144513 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-14C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002200298] Chr4:54287416 [GRCh38]
Chr4:55153583 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2208G>A (p.Gln736=) single nucleotide variant Gastrointestinal stromal tumor [RCV002202170] Chr4:54280367 [GRCh38]
Chr4:55146534 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1558+11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002102501] Chr4:54273741 [GRCh38]
Chr4:55139908 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1800G>A (p.Gly600=) single nucleotide variant Gastrointestinal stromal tumor [RCV002176211]|Hereditary cancer-predisposing syndrome [RCV002409603] Chr4:54277401 [GRCh38]
Chr4:55143568 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-16A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002156811] Chr4:54288783 [GRCh38]
Chr4:55154950 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-46A>G single nucleotide variant not provided [RCV002221740]   likely benign
NM_006206.6(PDGFRA):c.2881-15A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002099096] Chr4:54290298 [GRCh38]
Chr4:55156465 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-13C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002099243] Chr4:54285828 [GRCh38]
Chr4:55151995 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.459T>G (p.Thr153=) single nucleotide variant Gastrointestinal stromal tumor [RCV002103073] Chr4:54263758 [GRCh38]
Chr4:55129925 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-13C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002218224] Chr4:54270620 [GRCh38]
Chr4:55136787 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1892-17A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002123033] Chr4:54277879 [GRCh38]
Chr4:55144046 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.1891+33_1891+49del deletion Gastrointestinal stromal tumor [RCV002164782] Chr4:54277509..54277525 [GRCh38]
Chr4:55143676..55143692 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1561C>T (p.Leu521=) single nucleotide variant Gastrointestinal stromal tumor [RCV002220412] Chr4:54274533 [GRCh38]
Chr4:55140700 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002097918] Chr4:54267758 [GRCh38]
Chr4:55133925 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+19A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002098030] Chr4:54270767 [GRCh38]
Chr4:55136934 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002081562] Chr4:54274516 [GRCh38]
Chr4:55140683 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002218840] Chr4:54285979 [GRCh38]
Chr4:55152146 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+12del deletion Gastrointestinal stromal tumor [RCV002163511] Chr4:54270758 [GRCh38]
Chr4:55136925 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+14G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002216989] Chr4:54278529 [GRCh38]
Chr4:55144696 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002218974] Chr4:54267537 [GRCh38]
Chr4:55133704 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.747C>T (p.Tyr249=) single nucleotide variant Gastrointestinal stromal tumor [RCV002198176] Chr4:54265037 [GRCh38]
Chr4:55131204 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+20T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002100325] Chr4:54278535 [GRCh38]
Chr4:55144702 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2646C>A (p.Gly882=) single nucleotide variant Gastrointestinal stromal tumor [RCV002163672] Chr4:54287513 [GRCh38]
Chr4:55153680 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002081854] Chr4:54287419 [GRCh38]
Chr4:55153586 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1632C>G (p.Val544=) single nucleotide variant Gastrointestinal stromal tumor [RCV002200241] Chr4:54274604 [GRCh38]
Chr4:55140771 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.132C>T (p.Ser44=) single nucleotide variant Gastrointestinal stromal tumor [RCV002177715] Chr4:54261177 [GRCh38]
Chr4:55127344 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1558+18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002141679] Chr4:54273748 [GRCh38]
Chr4:55139915 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002163799] Chr4:54274993 [GRCh38]
Chr4:55141160 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+16del deletion Gastrointestinal stromal tumor [RCV002118168] Chr4:54265062 [GRCh38]
Chr4:55131229 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.3122+16G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002100526] Chr4:54290570 [GRCh38]
Chr4:55156737 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-6del deletion Gastrointestinal stromal tumor [RCV002084015] Chr4:54270621 [GRCh38]
Chr4:55136788 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.50-18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002084048] Chr4:54261077 [GRCh38]
Chr4:55127244 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1014G>A (p.Glu338=) single nucleotide variant Gastrointestinal stromal tumor [RCV002204501] Chr4:54267634 [GRCh38]
Chr4:55133801 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3111G>A (p.Arg1037=) single nucleotide variant Gastrointestinal stromal tumor [RCV002178107]|Hereditary cancer-predisposing syndrome [RCV002324533] Chr4:54290543 [GRCh38]
Chr4:55156710 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.629-6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002182002] Chr4:54264913 [GRCh38]
Chr4:55131080 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+12A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002164132] Chr4:54263939 [GRCh38]
Chr4:55130106 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1209G>A (p.Lys403=) single nucleotide variant Gastrointestinal stromal tumor [RCV002102896] Chr4:54270720 [GRCh38]
Chr4:55136887 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.177C>T (p.Tyr59=) single nucleotide variant Gastrointestinal stromal tumor [RCV002183953] Chr4:54261222 [GRCh38]
Chr4:55127389 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-14T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002164248] Chr4:54272380 [GRCh38]
Chr4:55138547 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-4G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002162670] Chr4:54285367 [GRCh38]
Chr4:55151534 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+19C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002164448] Chr4:54267760 [GRCh38]
Chr4:55133927 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.367+20dup duplication Gastrointestinal stromal tumor [RCV002164620] Chr4:54261431..54261432 [GRCh38]
Chr4:55127598..55127599 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+13C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002155613] Chr4:54288911 [GRCh38]
Chr4:55155078 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002103367] Chr4:54261078 [GRCh38]
Chr4:55127245 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002197730] Chr4:54270613 [GRCh38]
Chr4:55136780 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002137255] Chr4:54285367 [GRCh38]
Chr4:55151534 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-4C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002142260] Chr4:54273533 [GRCh38]
Chr4:55139700 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.858A>C (p.Gly286=) single nucleotide variant Gastrointestinal stromal tumor [RCV002179030]|Hereditary cancer-predisposing syndrome [RCV002443263] Chr4:54267387 [GRCh38]
Chr4:55133554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+19dup duplication Gastrointestinal stromal tumor [RCV002083468] Chr4:54265067..54265068 [GRCh38]
Chr4:55131234..55131235 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.543C>T (p.Thr181=) single nucleotide variant Gastrointestinal stromal tumor [RCV002081866]|Hereditary cancer-predisposing syndrome [RCV003339931] Chr4:54263842 [GRCh38]
Chr4:55130009 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1233T>C (p.Thr411=) single nucleotide variant Gastrointestinal stromal tumor [RCV002200580] Chr4:54270744 [GRCh38]
Chr4:55136911 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.121C>T (p.Leu41=) single nucleotide variant Gastrointestinal stromal tumor [RCV002202273] Chr4:54261166 [GRCh38]
Chr4:55127333 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2838G>C (p.Leu946=) single nucleotide variant Gastrointestinal stromal tumor [RCV002118444]|Hereditary cancer-predisposing syndrome [RCV002434549] Chr4:54289072 [GRCh38]
Chr4:55155239 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1821G>A (p.Val607=) single nucleotide variant Gastrointestinal stromal tumor [RCV002104162] Chr4:54277422 [GRCh38]
Chr4:55143589 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.111G>A (p.Lys37=) single nucleotide variant Gastrointestinal stromal tumor [RCV002181288] Chr4:54261156 [GRCh38]
Chr4:55127323 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.36C>T (p.Gly12=) single nucleotide variant Gastrointestinal stromal tumor [RCV002200731] Chr4:54258804 [GRCh38]
Chr4:55124971 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002181498] Chr4:54261091 [GRCh38]
Chr4:55127258 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+11G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002118724] Chr4:54270759 [GRCh38]
Chr4:55136926 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653+20del deletion Gastrointestinal stromal tumor [RCV002138598] Chr4:54274642 [GRCh38]
Chr4:55140809 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2563-11C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002140181] Chr4:54287419 [GRCh38]
Chr4:55153586 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2217T>C (p.Thr739=) single nucleotide variant Gastrointestinal stromal tumor [RCV002160499] Chr4:54280376 [GRCh38]
Chr4:55146543 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1857A>G (p.Gln619=) single nucleotide variant Gastrointestinal stromal tumor [RCV002103233]|Hereditary cancer-predisposing syndrome [RCV002409502] Chr4:54277458 [GRCh38]
Chr4:55143625 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1364+19TCT[2] microsatellite Gastrointestinal stromal tumor [RCV002161595] Chr4:54272539..54272541 [GRCh38]
Chr4:55138706..55138708 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1299G>A (p.Val433=) single nucleotide variant Gastrointestinal stromal tumor [RCV002100124] Chr4:54272455 [GRCh38]
Chr4:55138622 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.960C>A (p.Thr320=) single nucleotide variant Gastrointestinal stromal tumor [RCV002183153] Chr4:54267580 [GRCh38]
Chr4:55133747 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+12del deletion Gastrointestinal stromal tumor [RCV002143242] Chr4:54267753 [GRCh38]
Chr4:55133920 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.312C>T (p.His104=) single nucleotide variant Gastrointestinal stromal tumor [RCV002123185]|Hereditary cancer-predisposing syndrome [RCV002325665] Chr4:54261357 [GRCh38]
Chr4:55127524 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002158178] Chr4:54288918 [GRCh38]
Chr4:55155085 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+15C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002217059] Chr4:54267475 [GRCh38]
Chr4:55133642 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2832C>T (p.Tyr944=) single nucleotide variant Gastrointestinal stromal tumor [RCV002135903] Chr4:54289066 [GRCh38]
Chr4:55155233 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1338G>A (p.Glu446=) single nucleotide variant Gastrointestinal stromal tumor [RCV002179566] Chr4:54272494 [GRCh38]
Chr4:55138661 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+19C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002160105] Chr4:54288917 [GRCh38]
Chr4:55155084 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-13C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002102573] Chr4:54272381 [GRCh38]
Chr4:55138548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.861T>C (p.Asp287=) single nucleotide variant Gastrointestinal stromal tumor [RCV002136080] Chr4:54267390 [GRCh38]
Chr4:55133557 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.438C>T (p.Ala146=) single nucleotide variant Gastrointestinal stromal tumor [RCV002160405] Chr4:54263737 [GRCh38]
Chr4:55129904 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2002+21_2002+24del deletion Gastrointestinal stromal tumor [RCV002154861] Chr4:54278024..54278027 [GRCh38]
Chr4:55144191..55144194 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002217486] Chr4:54265067 [GRCh38]
Chr4:55131234 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1284T>C (p.Thr428=) single nucleotide variant Gastrointestinal stromal tumor [RCV002219442]|Hereditary cancer-predisposing syndrome [RCV003303751] Chr4:54272440 [GRCh38]
Chr4:55138607 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-17G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002204668] Chr4:54278345 [GRCh38]
Chr4:55144512 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1941A>C (p.Ile647=) single nucleotide variant Gastrointestinal stromal tumor [RCV002141777]|Hereditary cancer-predisposing syndrome [RCV002409522] Chr4:54277945 [GRCh38]
Chr4:55144112 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2226T>C (p.Tyr742=) single nucleotide variant Gastrointestinal stromal tumor [RCV002103161]|Hereditary cancer-predisposing syndrome [RCV002427625] Chr4:54280385 [GRCh38]
Chr4:55146552 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-16C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002218115] Chr4:54273521 [GRCh38]
Chr4:55139688 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-14T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002142403] Chr4:54288995 [GRCh38]
Chr4:55155162 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2881-10A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002163226] Chr4:54290303 [GRCh38]
Chr4:55156470 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1121+11T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002182491] Chr4:54267752 [GRCh38]
Chr4:55133919 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1815G>A (p.Gly605=) single nucleotide variant Gastrointestinal stromal tumor [RCV002163437] Chr4:54277416 [GRCh38]
Chr4:55143583 [GRCh37]
Chr4:4q12		 likely benign
NC_000004.11:g.(?_55161282)_(55161473_?)del deletion Gastrointestinal stromal tumor [RCV003109450] Chr4:55161282..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55161282)_(55161473_?)dup duplication Gastrointestinal stromal tumor [RCV003109451] Chr4:55161282..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55094349)_(55127589_?)dup duplication Gastrointestinal stromal tumor [RCV003109452] Chr4:55094349..55127589 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55131076)_(55161473_?)dup duplication Gastrointestinal stromal tumor [RCV003109453] Chr4:55131076..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124936)_(55161473_?)dup duplication Gastrointestinal stromal tumor [RCV003109454] Chr4:55124936..55161473 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55143535)_(55161439_?)dup duplication Gastrointestinal stromal tumor [RCV003109455] Chr4:55143535..55161439 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-16C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003114712] Chr4:54280300 [GRCh38]
Chr4:55146467 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-17_1238-15del microsatellite Gastrointestinal stromal tumor [RCV003115608] Chr4:54272374..54272376 [GRCh38]
Chr4:55138541..55138543 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1972G>T (p.Val658Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003116247] Chr4:54277976 [GRCh38]
Chr4:55144143 [GRCh37]
Chr4:4q12		 uncertain significance
NC_000004.11:g.(?_55124936)_(57368027_?)del deletion TMEM165-congenital disorder of glycosylation [RCV003119917]|not provided [RCV003119918] Chr4:55124936..57368027 [GRCh37]
Chr4:4q12		 pathogenic|uncertain significance|no classifications from unflagged records
NM_006206.6(PDGFRA):c.1859C>G (p.Pro620Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297525] Chr4:54277460 [GRCh38]
Chr4:55143627 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.976G>T (p.Ala326Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297529] Chr4:54267596 [GRCh38]
Chr4:55133763 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2263T>C (p.Ser755Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297531] Chr4:54280422 [GRCh38]
Chr4:55146589 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q12(chr4:53688710-56491447) copy number loss Piebaldism [RCV002280638] Chr4:53688710..56491447 [GRCh37]
Chr4:4q12		 pathogenic
NM_006206.6(PDGFRA):c.1227G>A (p.Leu409=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366757] Chr4:54270738 [GRCh38]
Chr4:55136905 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1254G>A (p.Leu418=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419093] Chr4:54272410 [GRCh38]
Chr4:55138577 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2823C>G (p.Pro941=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526214]|Hereditary cancer-predisposing syndrome [RCV002434999] Chr4:54289057 [GRCh38]
Chr4:55155224 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2846T>C (p.Ile949Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435306] Chr4:54289080 [GRCh38]
Chr4:55155247 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1140G>A (p.Lys380=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452196] Chr4:54270651 [GRCh38]
Chr4:55136818 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2857C>G (p.Leu953Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003526215]|Hereditary cancer-predisposing syndrome [RCV002435428] Chr4:54289091 [GRCh38]
Chr4:55155258 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1242T>G (p.Pro414=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384875] Chr4:54272398 [GRCh38]
Chr4:55138565 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1150G>A (p.Ala384Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003638828]|Hereditary cancer-predisposing syndrome [RCV002348869] Chr4:54270661 [GRCh38]
Chr4:55136828 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.282C>T (p.His94=) single nucleotide variant Gastrointestinal stromal tumor [RCV003102766]|Hereditary cancer-predisposing syndrome [RCV002435097] Chr4:54261327 [GRCh38]
Chr4:55127494 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.399G>A (p.Met133Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002297121] Chr4:54263698 [GRCh38]
Chr4:55129865 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1021G>T (p.Ala341Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419377] Chr4:54267641 [GRCh38]
Chr4:55133808 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.507T>C (p.Pro169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351462] Chr4:54263806 [GRCh38]
Chr4:55129973 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.633A>C (p.Thr211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368917] Chr4:54264923 [GRCh38]
Chr4:55131090 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.543C>A (p.Thr181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349585] Chr4:54263842 [GRCh38]
Chr4:55130009 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.543C>G (p.Thr181=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349587] Chr4:54263842 [GRCh38]
Chr4:55130009 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3013G>C (p.Gly1005Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435800] Chr4:54290445 [GRCh38]
Chr4:55156612 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2690C>A (p.Pro897His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453187] Chr4:54288814 [GRCh38]
Chr4:55154981 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2219C>T (p.Thr740Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003098729]|Hereditary cancer-predisposing syndrome [RCV002420113] Chr4:54280378 [GRCh38]
Chr4:55146545 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2696T>C (p.Met899Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453205] Chr4:54288820 [GRCh38]
Chr4:55154987 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.803C>T (p.Ser268Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419301] Chr4:54267332 [GRCh38]
Chr4:55133499 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3022G>C (p.Asp1008His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435908] Chr4:54290454 [GRCh38]
Chr4:55156621 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2599A>G (p.Ile867Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437121] Chr4:54287466 [GRCh38]
Chr4:55153633 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1956G>A (p.Gly652=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421625] Chr4:54277960 [GRCh38]
Chr4:55144127 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1552G>A (p.Ala518Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002298113]|Hereditary cancer-predisposing syndrome [RCV002400436]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003154247] Chr4:54273724 [GRCh38]
Chr4:55139891 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.669C>G (p.Thr223=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367106] Chr4:54264959 [GRCh38]
Chr4:55131126 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3016G>T (p.Gly1006Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435833] Chr4:54290448 [GRCh38]
Chr4:55156615 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1329T>G (p.Pro443=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385875] Chr4:54272485 [GRCh38]
Chr4:55138652 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1311T>A (p.Ala437=) single nucleotide variant Gastrointestinal stromal tumor [RCV003103640]|Hereditary cancer-predisposing syndrome [RCV002385461] Chr4:54272467 [GRCh38]
Chr4:55138634 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3030G>C (p.Gln1010His) single nucleotide variant Gastrointestinal stromal tumor [RCV003638903]|Hereditary cancer-predisposing syndrome [RCV002436013] Chr4:54290462 [GRCh38]
Chr4:55156629 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.541A>C (p.Thr181Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349461] Chr4:54263840 [GRCh38]
Chr4:55130007 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.815T>C (p.Val272Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421428] Chr4:54267344 [GRCh38]
Chr4:55133511 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1203T>G (p.Ala401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351951] Chr4:54270714 [GRCh38]
Chr4:55136881 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2579A>G (p.Lys860Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003111543]|Hereditary cancer-predisposing syndrome [RCV002452818] Chr4:54287446 [GRCh38]
Chr4:55153613 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.377T>C (p.Val126Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351141] Chr4:54263676 [GRCh38]
Chr4:55129843 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.800C>T (p.Pro267Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002296186]|Hereditary cancer-predisposing syndrome [RCV002416564] Chr4:54267329 [GRCh38]
Chr4:55133496 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2875A>C (p.Lys959Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437713] Chr4:54289109 [GRCh38]
Chr4:55155276 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.194A>T (p.Glu65Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003100953]|Hereditary cancer-predisposing syndrome [RCV002421496] Chr4:54261239 [GRCh38]
Chr4:55127406 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2847T>C (p.Ile949=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435319] Chr4:54289081 [GRCh38]
Chr4:55155248 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2886T>C (p.Tyr962=) single nucleotide variant Gastrointestinal stromal tumor [RCV003102829]|Hereditary cancer-predisposing syndrome [RCV002437854] Chr4:54290318 [GRCh38]
Chr4:55156485 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1332T>C (p.Asp444=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387536] Chr4:54272488 [GRCh38]
Chr4:55138655 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.195G>C (p.Glu65Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421712] Chr4:54261240 [GRCh38]
Chr4:55127407 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.498G>T (p.Gly166=) single nucleotide variant Gastrointestinal stromal tumor [RCV003096555]|Hereditary cancer-predisposing syndrome [RCV002351366] Chr4:54263797 [GRCh38]
Chr4:55129964 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2889A>C (p.Glu963Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003102835]|Hereditary cancer-predisposing syndrome [RCV002437871] Chr4:54290321 [GRCh38]
Chr4:55156488 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3196A>G (p.Thr1066Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002297103] Chr4:54295198 [GRCh38]
Chr4:55161365 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.805A>G (p.Ile269Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003776477]|Hereditary cancer-predisposing syndrome [RCV002419345] Chr4:54267334 [GRCh38]
Chr4:55133501 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.288G>C (p.Gly96=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437909] Chr4:54261333 [GRCh38]
Chr4:55127500 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.329A>G (p.Asn110Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454667] Chr4:54261374 [GRCh38]
Chr4:55127541 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.987G>A (p.Leu329=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387384] Chr4:54267607 [GRCh38]
Chr4:55133774 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.289_290inv (p.Leu97Lys) inversion Gastrointestinal stromal tumor [RCV003102839]|Hereditary cancer-predisposing syndrome [RCV002437921] Chr4:54261334..54261335 [GRCh38]
Chr4:55127501..55127502 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2300C>T (p.Ser767Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283484] Chr4:54280459 [GRCh38]
Chr4:55146626 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.324A>C (p.Glu108Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283486] Chr4:54261369 [GRCh38]
Chr4:55127536 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1841G>A (p.Gly614Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283487] Chr4:54277442 [GRCh38]
Chr4:55143609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.535A>C (p.Asn179His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347005] Chr4:54263834 [GRCh38]
Chr4:55130001 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1719T>A (p.Ile573=) single nucleotide variant Gastrointestinal stromal tumor [RCV003097162]|Hereditary cancer-predisposing syndrome [RCV002414765] Chr4:54274906 [GRCh38]
Chr4:55141073 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1861G>A (p.Val621Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414933] Chr4:54277462 [GRCh38]
Chr4:55143629 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3 copy number gain not provided [RCV002473779] Chr4:52685980..59272025 [GRCh37]
Chr4:4q11-12		 uncertain significance
NM_006206.6(PDGFRA):c.434C>T (p.Ser145Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332262] Chr4:54263733 [GRCh38]
Chr4:55129900 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1253T>A (p.Leu418Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416808] Chr4:54272409 [GRCh38]
Chr4:55138576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.793A>G (p.Lys265Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416813] Chr4:54267322 [GRCh38]
Chr4:55133489 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2635T>C (p.Trp879Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002302368] Chr4:54287502 [GRCh38]
Chr4:55153669 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1442G>C (p.Arg481Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002302881]|Hereditary cancer-predisposing syndrome [RCV003340476] Chr4:54273614 [GRCh38]
Chr4:55139781 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2116G>T (p.Asp706Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV003101067]|Hereditary cancer-predisposing syndrome [RCV002417560]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475378] Chr4:54278475 [GRCh38]
Chr4:55144642 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q12(chr4:54623716-55204256)x3 copy number gain not provided [RCV002472885] Chr4:54623716..55204256 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2305A>G (p.Lys769Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446375] Chr4:54280464 [GRCh38]
Chr4:55146631 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2134C>G (p.Pro712Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003638884]|Hereditary cancer-predisposing syndrome [RCV002417829] Chr4:54278493 [GRCh38]
Chr4:55144660 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1521T>G (p.Leu507=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392448] Chr4:54273693 [GRCh38]
Chr4:55139860 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.894G>A (p.Glu298=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449887] Chr4:54267423 [GRCh38]
Chr4:55133590 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1731G>C (p.Pro577=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399194] Chr4:54274918 [GRCh38]
Chr4:55141085 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.831C>T (p.Val277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430424] Chr4:54267360 [GRCh38]
Chr4:55133527 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1835C>T (p.Ala612Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002303959] Chr4:54277436 [GRCh38]
Chr4:55143603 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.478A>G (p.Thr160Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002304186] Chr4:54263777 [GRCh38]
Chr4:55129944 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2262T>C (p.Tyr754=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443770] Chr4:54280421 [GRCh38]
Chr4:55146588 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2397C>G (p.Thr799=) single nucleotide variant Gastrointestinal stromal tumor [RCV003775225]|Hereditary cancer-predisposing syndrome [RCV002450211] Chr4:54285444 [GRCh38]
Chr4:55151611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1245A>G (p.Ser415=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638859]|Hereditary cancer-predisposing syndrome [RCV002393758] Chr4:54272401 [GRCh38]
Chr4:55138568 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+1180T>C single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003230325] Chr4:54281662 [GRCh38]
Chr4:55147829 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.63C>G (p.Ile21Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354123] Chr4:54261108 [GRCh38]
Chr4:55127275 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1072G>A (p.Glu358Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423808] Chr4:54267692 [GRCh38]
Chr4:55133859 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.768A>G (p.Lys256=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526164]|Hereditary cancer-predisposing syndrome [RCV002400513] Chr4:54267297 [GRCh38]
Chr4:55133464 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1448C>T (p.Thr483Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394495] Chr4:54273620 [GRCh38]
Chr4:55139787 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.693T>G (p.Ile231Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362432] Chr4:54264983 [GRCh38]
Chr4:55131150 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.937G>T (p.Gly313Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV002305082] Chr4:54267557 [GRCh38]
Chr4:55133724 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3221A>G (p.Asp1074Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445487] Chr4:54295223 [GRCh38]
Chr4:55161390 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1629T>G (p.Ile543Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401229] Chr4:54274601 [GRCh38]
Chr4:55140768 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1362G>T (p.Lys454Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003095034]|Hereditary cancer-predisposing syndrome [RCV002383527] Chr4:54272518 [GRCh38]
Chr4:55138685 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1993A>G (p.Thr665Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416944] Chr4:54277997 [GRCh38]
Chr4:55144164 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1261G>C (p.Val421Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002305256]|Inborn genetic diseases [RCV003269163] Chr4:54272417 [GRCh38]
Chr4:55138584 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.296C>T (p.Thr99Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442078] Chr4:54261341 [GRCh38]
Chr4:55127508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1997A>C (p.Lys666Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417004] Chr4:54278001 [GRCh38]
Chr4:55144168 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3019C>G (p.Leu1007Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002305285] Chr4:54290451 [GRCh38]
Chr4:55156618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1424A>G (p.Glu475Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391887] Chr4:54273596 [GRCh38]
Chr4:55139763 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.214A>G (p.Arg72Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003121032]|Hereditary cancer-predisposing syndrome [RCV002432425] Chr4:54261259 [GRCh38]
Chr4:55127426 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2411G>T (p.Arg804Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450342] Chr4:54285458 [GRCh38]
Chr4:55151625 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.884C>T (p.Ala295Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373823] Chr4:54267413 [GRCh38]
Chr4:55133580 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2494G>T (p.Val832Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430989] Chr4:54285895 [GRCh38]
Chr4:55152062 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1714T>C (p.Tyr572His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398954] Chr4:54274901 [GRCh38]
Chr4:55141068 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1980G>A (p.Leu660=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423680] Chr4:54277984 [GRCh38]
Chr4:55144151 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1954G>T (p.Gly652Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV002299826] Chr4:54277958 [GRCh38]
Chr4:55144125 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1036A>C (p.Arg346=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394275] Chr4:54267656 [GRCh38]
Chr4:55133823 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.249G>C (p.Thr83=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431054] Chr4:54261294 [GRCh38]
Chr4:55127461 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3080C>G (p.Pro1027Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003099177]|Hereditary cancer-predisposing syndrome [RCV002319880] Chr4:54290512 [GRCh38]
Chr4:55156679 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2480C>A (p.Ala827Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003526205]|Hereditary cancer-predisposing syndrome [RCV002443955] Chr4:54285881 [GRCh38]
Chr4:55152048 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2950T>G (p.Ser984Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002296261] Chr4:54290382 [GRCh38]
Chr4:55156549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2465G>A (p.Arg822His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450579] Chr4:54285866 [GRCh38]
Chr4:55152033 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2386T>C (p.Leu796=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459520] Chr4:54285433 [GRCh38]
Chr4:55151600 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1721A>G (p.Tyr574Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399061] Chr4:54274908 [GRCh38]
Chr4:55141075 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1404T>C (p.Asn468=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389357] Chr4:54273576 [GRCh38]
Chr4:55139743 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3054C>T (p.Tyr1018=) single nucleotide variant Gastrointestinal stromal tumor [RCV003103006]|Hereditary cancer-predisposing syndrome [RCV002444136] Chr4:54290486 [GRCh38]
Chr4:55156653 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2241A>T (p.Glu747Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003101159]|Hereditary cancer-predisposing syndrome [RCV002428373] Chr4:54280400 [GRCh38]
Chr4:55146567 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2720A>C (p.Asn907Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431287] Chr4:54288844 [GRCh38]
Chr4:55155011 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.834C>G (p.Pro278=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434697] Chr4:54267363 [GRCh38]
Chr4:55133530 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1022C>T (p.Ala341Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447781] Chr4:54267642 [GRCh38]
Chr4:55133809 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.8C>G (p.Thr3Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003103551]|Hereditary cancer-predisposing syndrome [RCV002376342] Chr4:54258776 [GRCh38]
Chr4:55124943 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.220G>A (p.Glu74Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425842] Chr4:54261265 [GRCh38]
Chr4:55127432 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2287G>A (p.Asp763Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003638887]|Hereditary cancer-predisposing syndrome [RCV002446179] Chr4:54280446 [GRCh38]
Chr4:55146613 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1247C>G (p.Ser416Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV002300296] Chr4:54272403 [GRCh38]
Chr4:55138570 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2972T>C (p.Val991Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002298102] Chr4:54290404 [GRCh38]
Chr4:55156571 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2601C>T (p.Ile867=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638894]|Hereditary cancer-predisposing syndrome [RCV002426261] Chr4:54287468 [GRCh38]
Chr4:55153635 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2610C>T (p.Asn870=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426330] Chr4:54287477 [GRCh38]
Chr4:55153644 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2340C>G (p.Asn780Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448281] Chr4:54285387 [GRCh38]
Chr4:55151554 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1578G>T (p.Thr526=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392641] Chr4:54274550 [GRCh38]
Chr4:55140717 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.234C>A (p.Ser78Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448369] Chr4:54261279 [GRCh38]
Chr4:55127446 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1377A>C (p.Glu459Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002300362] Chr4:54273549 [GRCh38]
Chr4:55139716 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.824T>C (p.Leu275Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430155] Chr4:54267353 [GRCh38]
Chr4:55133520 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1265A>G (p.Asp422Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447973] Chr4:54272421 [GRCh38]
Chr4:55138588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2313A>G (p.Lys771=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448035] Chr4:54280472 [GRCh38]
Chr4:55146639 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3222T>G (p.Asp1074Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324689] Chr4:54295224 [GRCh38]
Chr4:55161391 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2238A>G (p.Leu746=) single nucleotide variant Gastrointestinal stromal tumor [RCV003111532]|Hereditary cancer-predisposing syndrome [RCV002428321]|PDGFRA-related condition [RCV003896189] Chr4:54280397 [GRCh38]
Chr4:55146564 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2241A>G (p.Glu747=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428372] Chr4:54280400 [GRCh38]
Chr4:55146567 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1110T>G (p.Ile370Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003102145]|Hereditary cancer-predisposing syndrome [RCV002431281] Chr4:54267730 [GRCh38]
Chr4:55133897 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.35G>T (p.Gly12Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002299508] Chr4:54258803 [GRCh38]
Chr4:55124970 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2141A>G (p.Asp714Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430557] Chr4:54278500 [GRCh38]
Chr4:55144667 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1631T>G (p.Val544Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401304]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475370] Chr4:54274603 [GRCh38]
Chr4:55140770 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1361A>C (p.Lys454Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383497] Chr4:54272517 [GRCh38]
Chr4:55138684 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2397C>A (p.Thr799=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459617] Chr4:54285444 [GRCh38]
Chr4:55151611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1740G>A (p.Leu580=) single nucleotide variant Gastrointestinal stromal tumor [RCV003097200]|Hereditary cancer-predisposing syndrome [RCV002401402] Chr4:54274927 [GRCh38]
Chr4:55141094 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.144A>G (p.Arg48=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394538] Chr4:54261189 [GRCh38]
Chr4:55127356 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1071T>G (p.Ile357Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423614] Chr4:54267691 [GRCh38]
Chr4:55133858 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3208A>G (p.Ile1070Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003099293]|Hereditary cancer-predisposing syndrome [RCV002323024] Chr4:54295210 [GRCh38]
Chr4:55161377 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1643T>C (p.Ile548Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403590] Chr4:54274615 [GRCh38]
Chr4:55140782 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.504A>T (p.Val168=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335708] Chr4:54263803 [GRCh38]
Chr4:55129970 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1037G>A (p.Arg346Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394598] Chr4:54267657 [GRCh38]
Chr4:55133824 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1745A>G (p.Tyr582Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401475] Chr4:54274932 [GRCh38]
Chr4:55141099 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1685T>C (p.Ile562Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406082] Chr4:54274872 [GRCh38]
Chr4:55141039 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1733T>C (p.Met578Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399221] Chr4:54274920 [GRCh38]
Chr4:55141087 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.104A>G (p.Asn35Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400981] Chr4:54261149 [GRCh38]
Chr4:55127316 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1986A>G (p.Gly662=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423742] Chr4:54277990 [GRCh38]
Chr4:55144157 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.868T>G (p.Cys290Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373392] Chr4:54267397 [GRCh38]
Chr4:55133564 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.324A>G (p.Glu108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445608] Chr4:54261369 [GRCh38]
Chr4:55127536 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1370A>T (p.Asn457Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383687] Chr4:54273542 [GRCh38]
Chr4:55139709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3036G>A (p.Leu1012=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438157] Chr4:54290468 [GRCh38]
Chr4:55156635 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2368C>A (p.Leu790Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457746] Chr4:54285415 [GRCh38]
Chr4:55151582 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1456G>A (p.Gly486Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394720] Chr4:54273628 [GRCh38]
Chr4:55139795 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1551G>T (p.Val517=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403393] Chr4:54273723 [GRCh38]
Chr4:55139890 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3110G>C (p.Arg1037Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326088] Chr4:54290542 [GRCh38]
Chr4:55156709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2561G>A (p.Ser854Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003775294]|Hereditary cancer-predisposing syndrome [RCV002433402] Chr4:54285962 [GRCh38]
Chr4:55152129 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2073T>C (p.Asp691=) single nucleotide variant Gastrointestinal stromal tumor [RCV003098597]|Hereditary cancer-predisposing syndrome [RCV002422182] Chr4:54278432 [GRCh38]
Chr4:55144599 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2460T>G (p.Ala820=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455483] Chr4:54285861 [GRCh38]
Chr4:55152028 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1212C>T (p.Ser404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356050] Chr4:54270723 [GRCh38]
Chr4:55136890 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.750T>C (p.Pro250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393774] Chr4:54265040 [GRCh38]
Chr4:55131207 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.643G>A (p.Asp215Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361785] Chr4:54264933 [GRCh38]
Chr4:55131100 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2416A>C (p.Met806Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450363] Chr4:54285463 [GRCh38]
Chr4:55151630 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.601A>G (p.Ile201Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002298028] Chr4:54263900 [GRCh38]
Chr4:55130067 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3161C>T (p.Ser1054Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320946] Chr4:54295163 [GRCh38]
Chr4:55161330 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1359T>C (p.Ile453=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383432] Chr4:54272515 [GRCh38]
Chr4:55138682 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2450G>A (p.Arg817His) single nucleotide variant Gastrointestinal stromal tumor [RCV003775257]|Hereditary cancer-predisposing syndrome [RCV002450511] Chr4:54285851 [GRCh38]
Chr4:55152018 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.443T>C (p.Ile148Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003526137]|Hereditary cancer-predisposing syndrome [RCV002328271] Chr4:54263742 [GRCh38]
Chr4:55129909 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.427G>A (p.Asp143Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330111] Chr4:54263726 [GRCh38]
Chr4:55129893 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2812G>A (p.Glu938Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441720] Chr4:54289046 [GRCh38]
Chr4:55155213 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3247C>A (p.Leu1083Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324837]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475339] Chr4:54295249 [GRCh38]
Chr4:55161416 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3247C>T (p.Leu1083=) single nucleotide variant Gastrointestinal stromal tumor [RCV003099330]|Hereditary cancer-predisposing syndrome [RCV002324839] Chr4:54295249 [GRCh38]
Chr4:55161416 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3051C>T (p.Gly1017=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444119] Chr4:54290483 [GRCh38]
Chr4:55156650 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2557G>A (p.Gly853Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433348] Chr4:54285958 [GRCh38]
Chr4:55152125 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.139C>T (p.Leu47=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638872]|Hereditary cancer-predisposing syndrome [RCV002389211] Chr4:54261184 [GRCh38]
Chr4:55127351 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.1967A>G (p.Asn656Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423411] Chr4:54277971 [GRCh38]
Chr4:55144138 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.411A>G (p.Leu137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323470] Chr4:54263710 [GRCh38]
Chr4:55129877 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1479G>A (p.Val493=) single nucleotide variant Gastrointestinal stromal tumor [RCV003095216]|Hereditary cancer-predisposing syndrome [RCV002397085] Chr4:54273651 [GRCh38]
Chr4:55139818 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2959G>A (p.Ala987Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441952] Chr4:54290391 [GRCh38]
Chr4:55156558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.507T>A (p.Pro169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335887] Chr4:54263806 [GRCh38]
Chr4:55129973 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2920C>T (p.His974Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439958] Chr4:54290352 [GRCh38]
Chr4:55156519 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1466C>T (p.Thr489Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003095199]|Hereditary cancer-predisposing syndrome [RCV002396837] Chr4:54273638 [GRCh38]
Chr4:55139805 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1467T>C (p.Thr489=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638874]|Hereditary cancer-predisposing syndrome [RCV002396859] Chr4:54273639 [GRCh38]
Chr4:55139806 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.239T>C (p.Leu80Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430665] Chr4:54261284 [GRCh38]
Chr4:55127451 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.852C>T (p.Asp284=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447798] Chr4:54267381 [GRCh38]
Chr4:55133548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2940G>A (p.Met980Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440165] Chr4:54290372 [GRCh38]
Chr4:55156539 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1489A>G (p.Ile497Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003526177]|Hereditary cancer-predisposing syndrome [RCV002389647] Chr4:54273661 [GRCh38]
Chr4:55139828 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2222A>C (p.Gln741Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003775143]|Hereditary cancer-predisposing syndrome [RCV002428092] Chr4:54280381 [GRCh38]
Chr4:55146548 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2490A>T (p.Lys830Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003101880]|Hereditary cancer-predisposing syndrome [RCV002430927] Chr4:54285891 [GRCh38]
Chr4:55152058 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1286G>T (p.Gly429Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002302878] Chr4:54272442 [GRCh38]
Chr4:55138609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1057A>G (p.Asn353Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414836] Chr4:54267677 [GRCh38]
Chr4:55133844 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1500A>T (p.Arg500=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526178]|Hereditary cancer-predisposing syndrome [RCV002389922] Chr4:54273672 [GRCh38]
Chr4:55139839 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3088G>A (p.Glu1030Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325755] Chr4:54290520 [GRCh38]
Chr4:55156687 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1297G>A (p.Val433Met) single nucleotide variant Gastrointestinal stromal tumor [RCV002298399] Chr4:54272453 [GRCh38]
Chr4:55138620 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1501T>C (p.Cys501Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389948] Chr4:54273673 [GRCh38]
Chr4:55139840 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.639G>T (p.Glu213Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003098231]|Hereditary cancer-predisposing syndrome [RCV002354120] Chr4:54264929 [GRCh38]
Chr4:55131096 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.107A>T (p.Glu36Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424232] Chr4:54261152 [GRCh38]
Chr4:55127319 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.837G>A (p.Glu279=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434815] Chr4:54267366 [GRCh38]
Chr4:55133533 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.783G>C (p.Leu261=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638862]|Hereditary cancer-predisposing syndrome [RCV002412168] Chr4:54267312 [GRCh38]
Chr4:55133479 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2244G>A (p.Arg748=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428396] Chr4:54280403 [GRCh38]
Chr4:55146570 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1443G>T (p.Arg481Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394410] Chr4:54273615 [GRCh38]
Chr4:55139782 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787G>A (p.Gly596Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404168] Chr4:54277388 [GRCh38]
Chr4:55143555 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.233G>C (p.Ser78Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448272] Chr4:54261278 [GRCh38]
Chr4:55127445 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1909G>A (p.Glu637Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408419] Chr4:54277913 [GRCh38]
Chr4:55144080 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.432T>C (p.Asp144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332121] Chr4:54263731 [GRCh38]
Chr4:55129898 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1174T>A (p.Tyr392Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333837] Chr4:54270685 [GRCh38]
Chr4:55136852 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1919C>T (p.Ala640Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410654] Chr4:54277923 [GRCh38]
Chr4:55144090 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.873T>G (p.Ala291=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373533] Chr4:54267402 [GRCh38]
Chr4:55133569 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3225C>T (p.Asp1075=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526128]|Hereditary cancer-predisposing syndrome [RCV002445511] Chr4:54295227 [GRCh38]
Chr4:55161394 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.330T>C (p.Asn110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326307] Chr4:54261375 [GRCh38]
Chr4:55127542 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.434C>A (p.Ser145Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332252] Chr4:54263733 [GRCh38]
Chr4:55129900 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.566G>T (p.Cys189Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347360] Chr4:54263865 [GRCh38]
Chr4:55130032 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.408T>C (p.Tyr136=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323230] Chr4:54263707 [GRCh38]
Chr4:55129874 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2882G>C (p.Ser961Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002300133] Chr4:54290314 [GRCh38]
Chr4:55156481 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.475G>A (p.Val159Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003102625]|Hereditary cancer-predisposing syndrome [RCV002337669] Chr4:54263774 [GRCh38]
Chr4:55129941 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3077A>T (p.Asp1026Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319833] Chr4:54290509 [GRCh38]
Chr4:55156676 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2976C>G (p.Thr992=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442143] Chr4:54290408 [GRCh38]
Chr4:55156575 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2699T>C (p.Met900Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428977] Chr4:54288823 [GRCh38]
Chr4:55154990 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.183G>A (p.Met61Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412818] Chr4:54261228 [GRCh38]
Chr4:55127395 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1843T>A (p.Leu615Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412894] Chr4:54277444 [GRCh38]
Chr4:55143611 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3118C>T (p.His1040Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV003526127]|Hereditary cancer-predisposing syndrome [RCV002320451] Chr4:54290550 [GRCh38]
Chr4:55156717 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1061T>A (p.Leu354Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV002300353] Chr4:54267681 [GRCh38]
Chr4:55133848 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.93T>C (p.Leu31=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638868]|Hereditary cancer-predisposing syndrome [RCV002373941] Chr4:54261138 [GRCh38]
Chr4:55127305 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2575G>C (p.Val859Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426039] Chr4:54287442 [GRCh38]
Chr4:55153609 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2283C>T (p.Leu761=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446122] Chr4:54280442 [GRCh38]
Chr4:55146609 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2291G>C (p.Arg764Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446238] Chr4:54280450 [GRCh38]
Chr4:55146617 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.481T>C (p.Leu161=) single nucleotide variant Gastrointestinal stromal tumor [RCV003102636]|Hereditary cancer-predisposing syndrome [RCV002338018] Chr4:54263780 [GRCh38]
Chr4:55129947 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.474T>C (p.Pro158=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330626] Chr4:54263773 [GRCh38]
Chr4:55129940 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.153G>A (p.Gly51=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403141] Chr4:54261198 [GRCh38]
Chr4:55127365 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.678G>A (p.Lys226=) single nucleotide variant Gastrointestinal stromal tumor [RCV003098380]|Hereditary cancer-predisposing syndrome [RCV002369406] Chr4:54264968 [GRCh38]
Chr4:55131135 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1578G>C (p.Thr526=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405746] Chr4:54274550 [GRCh38]
Chr4:55140717 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.447T>G (p.Pro149=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328563] Chr4:54263746 [GRCh38]
Chr4:55129913 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1853C>T (p.Ser618Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413059] Chr4:54277454 [GRCh38]
Chr4:55143621 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.681A>G (p.Ser227=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638854]|Hereditary cancer-predisposing syndrome [RCV002369571] Chr4:54264971 [GRCh38]
Chr4:55131138 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2070G>A (p.Arg690=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422144] Chr4:54278429 [GRCh38]
Chr4:55144596 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1670T>G (p.Ile557Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405851] Chr4:54274857 [GRCh38]
Chr4:55141024 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.992A>C (p.Glu331Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382848] Chr4:54267612 [GRCh38]
Chr4:55133779 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3209T>A (p.Ile1070Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002298094] Chr4:54295211 [GRCh38]
Chr4:55161378 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.501G>C (p.Val167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335561] Chr4:54263800 [GRCh38]
Chr4:55129967 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378325] Chr4:54272391 [GRCh38]
Chr4:55138558 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2607C>T (p.Asp869=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426308] Chr4:54287474 [GRCh38]
Chr4:55153641 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.827C>A (p.Thr276Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003776491]|Hereditary cancer-predisposing syndrome [RCV002430233] Chr4:54267356 [GRCh38]
Chr4:55133523 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.772A>T (p.Ile258Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003776433]|Hereditary cancer-predisposing syndrome [RCV002400717] Chr4:54267301 [GRCh38]
Chr4:55133468 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.776C>T (p.Thr259Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409756] Chr4:54267305 [GRCh38]
Chr4:55133472 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.395G>C (p.Gly132Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357673] Chr4:54263694 [GRCh38]
Chr4:55129861 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3233T>A (p.Ile1078Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324754] Chr4:54295235 [GRCh38]
Chr4:55161402 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3243A>G (p.Ser1081=) single nucleotide variant Gastrointestinal stromal tumor [RCV003099327]|Hereditary cancer-predisposing syndrome [RCV002324807] Chr4:54295245 [GRCh38]
Chr4:55161412 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.718A>G (p.Asn240Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370771] Chr4:54265008 [GRCh38]
Chr4:55131175 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.699C>G (p.Val233=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364704] Chr4:54264989 [GRCh38]
Chr4:55131156 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.432T>G (p.Asp144Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332125] Chr4:54263731 [GRCh38]
Chr4:55129898 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.462T>C (p.Asp154=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342566] Chr4:54263761 [GRCh38]
Chr4:55129928 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1396G>A (p.Ala466Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389128] Chr4:54273568 [GRCh38]
Chr4:55139735 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1398C>T (p.Ala466=) single nucleotide variant Gastrointestinal stromal tumor [RCV003095085]|Hereditary cancer-predisposing syndrome [RCV002389152] Chr4:54273570 [GRCh38]
Chr4:55139737 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.391C>T (p.Leu131=) single nucleotide variant Gastrointestinal stromal tumor [RCV003094441]|Hereditary cancer-predisposing syndrome [RCV002321109] Chr4:54263690 [GRCh38]
Chr4:55129857 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.202G>T (p.Asp68Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV002994629] Chr4:54261247 [GRCh38]
Chr4:55127414 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.366A>T (p.Pro122=) single nucleotide variant Gastrointestinal stromal tumor [RCV002861555]|Hereditary cancer-predisposing syndrome [RCV003274052] Chr4:54261411 [GRCh38]
Chr4:55127578 [GRCh37]
Chr4:4q12		 likely benign|uncertain significance
NM_006206.6(PDGFRA):c.2342T>G (p.Leu781Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003014932] Chr4:54285389 [GRCh38]
Chr4:55151556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.314C>T (p.Thr105Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002842157] Chr4:54261359 [GRCh38]
Chr4:55127526 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2440-17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003074556] Chr4:54285824 [GRCh38]
Chr4:55151991 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2194A>T (p.Met732Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003014704] Chr4:54280353 [GRCh38]
Chr4:55146520 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2560A>G (p.Ser854Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002967584] Chr4:54285961 [GRCh38]
Chr4:55152128 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1696A>C (p.Ser566Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003015864] Chr4:54274883 [GRCh38]
Chr4:55141050 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2279C>T (p.Ser760Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003013897] Chr4:54280438 [GRCh38]
Chr4:55146605 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3024T>G (p.Asp1008Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002991796] Chr4:54290456 [GRCh38]
Chr4:55156623 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.854G>A (p.Ser285Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002751407] Chr4:54267383 [GRCh38]
Chr4:55133550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1992C>T (p.Cys664=) single nucleotide variant Gastrointestinal stromal tumor [RCV003099018] Chr4:54277996 [GRCh38]
Chr4:55144163 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.262A>C (p.Ser88Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003033688] Chr4:54261307 [GRCh38]
Chr4:55127474 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2563-20G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002843775] Chr4:54287410 [GRCh38]
Chr4:55153577 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003017400] Chr4:54263651 [GRCh38]
Chr4:55129818 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1204G>T (p.Val402Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002971120] Chr4:54270715 [GRCh38]
Chr4:55136882 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2774+15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003095551] Chr4:54288913 [GRCh38]
Chr4:55155080 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1382C>T (p.Ser461Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV002731478] Chr4:54273554 [GRCh38]
Chr4:55139721 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2910G>A (p.Leu970=) single nucleotide variant Gastrointestinal stromal tumor [RCV003034804] Chr4:54290342 [GRCh38]
Chr4:55156509 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1530_1532del (p.Glu510_Asn511delinsAsp) deletion Gastrointestinal stromal tumor [RCV002975089] Chr4:54273701..54273703 [GRCh38]
Chr4:55139868..55139870 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003077025] Chr4:54277878 [GRCh38]
Chr4:55144045 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.107_108inv (p.Glu36Val) inversion Gastrointestinal stromal tumor [RCV002843480] Chr4:54261152..54261153 [GRCh38]
Chr4:55127319..55127320 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+11AG[2] microsatellite Gastrointestinal stromal tumor [RCV002866057] Chr4:54278526..54278527 [GRCh38]
Chr4:55144693..55144694 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.831_832delinsTT (p.Pro278Ser) indel Gastrointestinal stromal tumor [RCV002863316] Chr4:54267360..54267361 [GRCh38]
Chr4:55133527..55133528 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2987A>T (p.Glu996Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003016380] Chr4:54290419 [GRCh38]
Chr4:55156586 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1571A>T (p.Glu524Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003034753] Chr4:54274543 [GRCh38]
Chr4:55140710 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-9T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002863541] Chr4:54270624 [GRCh38]
Chr4:55136791 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003033557] Chr4:54290564 [GRCh38]
Chr4:55156731 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2080C>G (p.Leu694Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002780012] Chr4:54278439 [GRCh38]
Chr4:55144606 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.335T>G (p.Leu112Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003033963] Chr4:54261380 [GRCh38]
Chr4:55127547 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1585G>A (p.Ala529Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002843074] Chr4:54274557 [GRCh38]
Chr4:55140724 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50-14G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003035131] Chr4:54261081 [GRCh38]
Chr4:55127248 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.174G>A (p.Gln58=) single nucleotide variant Gastrointestinal stromal tumor [RCV002862082]|Hereditary cancer-predisposing syndrome [RCV003167832] Chr4:54261219 [GRCh38]
Chr4:55127386 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2942G>C (p.Arg981Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003074815]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003475502] Chr4:54290374 [GRCh38]
Chr4:55156541 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-17A>T single nucleotide variant Gastrointestinal stromal tumor [RCV003074831] Chr4:54277879 [GRCh38]
Chr4:55144046 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2655C>T (p.Leu885=) single nucleotide variant Gastrointestinal stromal tumor [RCV003095711] Chr4:54287522 [GRCh38]
Chr4:55153689 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3198C>T (p.Thr1066=) single nucleotide variant Gastrointestinal stromal tumor [RCV002858256] Chr4:54295200 [GRCh38]
Chr4:55161367 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.938G>C (p.Gly313Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002861457] Chr4:54267558 [GRCh38]
Chr4:55133725 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1383C>A (p.Ser461=) single nucleotide variant Gastrointestinal stromal tumor [RCV002863870] Chr4:54273555 [GRCh38]
Chr4:55139722 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1901G>A (p.Arg634Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV002903748] Chr4:54277905 [GRCh38]
Chr4:55144072 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-13T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002904272] Chr4:54273524 [GRCh38]
Chr4:55139691 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2157-14T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003015714] Chr4:54280302 [GRCh38]
Chr4:55146469 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.18G>T (p.Pro6=) single nucleotide variant Gastrointestinal stromal tumor [RCV003014592] Chr4:54258786 [GRCh38]
Chr4:55124953 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.838G>A (p.Ala280Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003014994] Chr4:54267367 [GRCh38]
Chr4:55133534 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-12G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002815175] Chr4:54277376 [GRCh38]
Chr4:55143543 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1460G>T (p.Arg487Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002842287] Chr4:54273632 [GRCh38]
Chr4:55139799 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+5G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003012447] Chr4:54278011 [GRCh38]
Chr4:55144178 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.266G>A (p.Ser89Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002839421] Chr4:54261311 [GRCh38]
Chr4:55127478 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.759+10C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003075637] Chr4:54265059 [GRCh38]
Chr4:55131226 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2751G>A (p.Lys917=) single nucleotide variant Gastrointestinal stromal tumor [RCV003016936]|Hereditary cancer-predisposing syndrome [RCV003340591] Chr4:54288875 [GRCh38]
Chr4:55155042 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1450G>T (p.Val484Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002907946] Chr4:54273622 [GRCh38]
Chr4:55139789 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+1G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003016940] Chr4:54258818 [GRCh38]
Chr4:55124985 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2758C>A (p.His920Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002908852] Chr4:54288882 [GRCh38]
Chr4:55155049 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+5G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002858192] Chr4:54278011 [GRCh38]
Chr4:55144178 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1012G>A (p.Glu338Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV002994577] Chr4:54267632 [GRCh38]
Chr4:55133799 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1386G>A (p.Trp462Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV002819005] Chr4:54273558 [GRCh38]
Chr4:55139725 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-13C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002837711] Chr4:54270620 [GRCh38]
Chr4:55136787 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2283C>G (p.Leu761=) single nucleotide variant Gastrointestinal stromal tumor [RCV002882078] Chr4:54280442 [GRCh38]
Chr4:55146609 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2022A>G (p.Thr674=) single nucleotide variant Gastrointestinal stromal tumor [RCV002863190] Chr4:54278381 [GRCh38]
Chr4:55144548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2675-17T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002796097] Chr4:54288782 [GRCh38]
Chr4:55154949 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1354G>A (p.Asp452Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003003229] Chr4:54272510 [GRCh38]
Chr4:55138677 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+14A>T single nucleotide variant Gastrointestinal stromal tumor [RCV002889558] Chr4:54272534 [GRCh38]
Chr4:55138701 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+10A>C single nucleotide variant Gastrointestinal stromal tumor [RCV002825366] Chr4:54274983 [GRCh38]
Chr4:55141150 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+6A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003054019] Chr4:54280488 [GRCh38]
Chr4:55146655 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1786+6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002740525] Chr4:54274979 [GRCh38]
Chr4:55141146 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2748C>T (p.Ala916=) single nucleotide variant Gastrointestinal stromal tumor [RCV002953610] Chr4:54288872 [GRCh38]
Chr4:55155039 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2577G>A (p.Val859=) single nucleotide variant Gastrointestinal stromal tumor [RCV002796340] Chr4:54287444 [GRCh38]
Chr4:55153611 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2313A>C (p.Lys771Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002928142] Chr4:54280472 [GRCh38]
Chr4:55146639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.424G>C (p.Asp142His) single nucleotide variant Gastrointestinal stromal tumor [RCV002593351]|Hereditary cancer-predisposing syndrome [RCV003375634] Chr4:54263723 [GRCh38]
Chr4:55129890 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2357A>T (p.Asn786Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002999971] Chr4:54285404 [GRCh38]
Chr4:55151571 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1728C>T (p.Asp576=) single nucleotide variant Gastrointestinal stromal tumor [RCV002889537]|Hereditary cancer-predisposing syndrome [RCV003367897] Chr4:54274915 [GRCh38]
Chr4:55141082 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2002+15C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002623256] Chr4:54278021 [GRCh38]
Chr4:55144188 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3228_3229delinsTA (p.Gly1077Ser) indel Gastrointestinal stromal tumor [RCV002825624] Chr4:54295230..54295231 [GRCh38]
Chr4:55161397..55161398 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+15A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002847763] Chr4:54280497 [GRCh38]
Chr4:55146664 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+8C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002796555] Chr4:54288906 [GRCh38]
Chr4:55155073 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2256T>G (p.Ser752=) single nucleotide variant Gastrointestinal stromal tumor [RCV002953400] Chr4:54280415 [GRCh38]
Chr4:55146582 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2962T>C (p.Tyr988His) single nucleotide variant Gastrointestinal stromal tumor [RCV002696202] Chr4:54290394 [GRCh38]
Chr4:55156561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1820T>C (p.Val607Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003019235] Chr4:54277421 [GRCh38]
Chr4:55143588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2071G>A (p.Asp691Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003055350] Chr4:54278430 [GRCh38]
Chr4:55144597 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.499G>T (p.Val167Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003079563]|Hereditary cancer-predisposing syndrome [RCV003294473] Chr4:54263798 [GRCh38]
Chr4:55129965 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.10T>G (p.Ser4Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002796567] Chr4:54258778 [GRCh38]
Chr4:55124945 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.82C>T (p.Pro28Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003054311] Chr4:54261127 [GRCh38]
Chr4:55127294 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2536G>A (p.Asp846Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002867059] Chr4:54285937 [GRCh38]
Chr4:55152104 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002736572] Chr4:54285975 [GRCh38]
Chr4:55152142 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1653G>C (p.Gln551His) single nucleotide variant Gastrointestinal stromal tumor [RCV002823754] Chr4:54274625 [GRCh38]
Chr4:55140792 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.997A>G (p.Lys333Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002590911] Chr4:54267617 [GRCh38]
Chr4:55133784 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002820788] Chr4:54258827 [GRCh38]
Chr4:55124994 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+15A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003018503] Chr4:54290569 [GRCh38]
Chr4:55156736 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-11T>A single nucleotide variant Gastrointestinal stromal tumor [RCV002659680] Chr4:54270622 [GRCh38]
Chr4:55136789 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3011A>T (p.Glu1004Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002820199] Chr4:54290443 [GRCh38]
Chr4:55156610 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3032_3033del (p.Arg1011fs) microsatellite Gastrointestinal stromal tumor [RCV003079053] Chr4:54290461..54290462 [GRCh38]
Chr4:55156628..55156629 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+3G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002867654] Chr4:54278009 [GRCh38]
Chr4:55144176 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+15_2562+27del deletion Gastrointestinal stromal tumor [RCV003035351] Chr4:54285978..54285990 [GRCh38]
Chr4:55152145..55152157 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1237+14G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002637671] Chr4:54270762 [GRCh38]
Chr4:55136929 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.594C>T (p.Phe198=) single nucleotide variant Gastrointestinal stromal tumor [RCV002659261] Chr4:54263893 [GRCh38]
Chr4:55130060 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2898C>A (p.His966Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV002760338] Chr4:54290330 [GRCh38]
Chr4:55156497 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.492T>C (p.Ser164=) single nucleotide variant Gastrointestinal stromal tumor [RCV002885632] Chr4:54263791 [GRCh38]
Chr4:55129958 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.957C>T (p.Pro319=) single nucleotide variant Gastrointestinal stromal tumor [RCV002622514] Chr4:54267577 [GRCh38]
Chr4:55133744 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2003-18C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002780366] Chr4:54278344 [GRCh38]
Chr4:55144511 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.238C>A (p.Leu80Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002824315] Chr4:54261283 [GRCh38]
Chr4:55127450 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.875C>T (p.Ala292Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002591396] Chr4:54267404 [GRCh38]
Chr4:55133571 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-2A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003019988] Chr4:54277386 [GRCh38]
Chr4:55143553 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2051A>G (p.Asn684Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002979788] Chr4:54278410 [GRCh38]
Chr4:55144577 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.990T>C (p.His330=) single nucleotide variant Gastrointestinal stromal tumor [RCV003053175] Chr4:54267610 [GRCh38]
Chr4:55133777 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1576A>G (p.Thr526Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002592121] Chr4:54274548 [GRCh38]
Chr4:55140715 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2277A>T (p.Arg759Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002592131] Chr4:54280436 [GRCh38]
Chr4:55146603 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1401C>G (p.Asn467Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV002694958]|Hereditary cancer-predisposing syndrome [RCV003375668] Chr4:54273573 [GRCh38]
Chr4:55139740 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1988C>G (p.Ala663Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002621702] Chr4:54277992 [GRCh38]
Chr4:55144159 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1705G>A (p.Gly569Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002760382] Chr4:54274892 [GRCh38]
Chr4:55141059 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+3A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002824484] Chr4:54285489 [GRCh38]
Chr4:55151656 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1237+13A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002706222] Chr4:54270761 [GRCh38]
Chr4:55136928 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.368-20C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002867822] Chr4:54263647 [GRCh38]
Chr4:55129814 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1184T>G (p.Val395Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002695637] Chr4:54270695 [GRCh38]
Chr4:55136862 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.617A>G (p.Tyr206Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003021623] Chr4:54263916 [GRCh38]
Chr4:55130083 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+12C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003079917] Chr4:54267753 [GRCh38]
Chr4:55133920 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1549G>A (p.Val517Met) single nucleotide variant Gastrointestinal stromal tumor [RCV002797088] Chr4:54273721 [GRCh38]
Chr4:55139888 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.759+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003053097] Chr4:54265058 [GRCh38]
Chr4:55131225 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+16C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003081180] Chr4:54258833 [GRCh38]
Chr4:55125000 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2281C>G (p.Leu761Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003081189] Chr4:54280440 [GRCh38]
Chr4:55146607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2694C>G (p.Gly898=) single nucleotide variant Gastrointestinal stromal tumor [RCV002706515] Chr4:54288818 [GRCh38]
Chr4:55154985 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.310C>G (p.His104Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002886086] Chr4:54261355 [GRCh38]
Chr4:55127522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.556C>G (p.Pro186Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003019569] Chr4:54263855 [GRCh38]
Chr4:55130022 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2727C>A (p.Ile909=) single nucleotide variant Gastrointestinal stromal tumor [RCV003077182] Chr4:54288851 [GRCh38]
Chr4:55155018 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1933C>G (p.Leu645Val) single nucleotide variant Gastrointestinal stromal tumor [RCV002796940] Chr4:54277937 [GRCh38]
Chr4:55144104 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002847795] Chr4:54273529 [GRCh38]
Chr4:55139696 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-20CT[4] microsatellite Gastrointestinal stromal tumor [RCV002663357] Chr4:54274511..54274512 [GRCh38]
Chr4:55140678..55140679 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2748C>A (p.Ala916=) single nucleotide variant Gastrointestinal stromal tumor [RCV002791565] Chr4:54288872 [GRCh38]
Chr4:55155039 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2233A>G (p.Met745Val) single nucleotide variant Inborn genetic diseases [RCV002827678] Chr4:54280392 [GRCh38]
Chr4:55146559 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003058526] Chr4:54258835 [GRCh38]
Chr4:55125002 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.931+14T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002700663] Chr4:54267474 [GRCh38]
Chr4:55133641 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1184T>C (p.Val395Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003083163] Chr4:54270695 [GRCh38]
Chr4:55136862 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1323_1324delinsCT (p.Leu442Phe) indel Gastrointestinal stromal tumor [RCV002917749] Chr4:54272479..54272480 [GRCh38]
Chr4:55138646..55138647 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-14C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003059801] Chr4:54277374 [GRCh38]
Chr4:55143541 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.794A>C (p.Lys265Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002932458] Chr4:54267323 [GRCh38]
Chr4:55133490 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1891+19G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003059719] Chr4:54277511 [GRCh38]
Chr4:55143678 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV002644497]|Idiopathic hypereosinophilic syndrome [RCV003134678] Chr4:54290407 [GRCh38]
Chr4:55156574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+9G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003025959] Chr4:54289123 [GRCh38]
Chr4:55155290 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-13del deletion Gastrointestinal stromal tumor [RCV002576178] Chr4:54285827 [GRCh38]
Chr4:55151994 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2736G>A (p.Gly912=) single nucleotide variant Gastrointestinal stromal tumor [RCV002644542]|Hereditary cancer-predisposing syndrome [RCV003162091] Chr4:54288860 [GRCh38]
Chr4:55155027 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.367+9G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002624446] Chr4:54261421 [GRCh38]
Chr4:55127588 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.760-12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002876607] Chr4:54267277 [GRCh38]
Chr4:55133444 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1862T>C (p.Val621Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003042265]|Hereditary cancer-predisposing syndrome [RCV003308445] Chr4:54277463 [GRCh38]
Chr4:55143630 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-14C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003084529] Chr4:54270619 [GRCh38]
Chr4:55136786 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2340C>T (p.Asn780=) single nucleotide variant Gastrointestinal stromal tumor [RCV002627226] Chr4:54285387 [GRCh38]
Chr4:55151554 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1940T>C (p.Ile647Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002802107] Chr4:54277944 [GRCh38]
Chr4:55144111 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2329_2330del (p.Glu777fs) deletion Gastrointestinal stromal tumor [RCV002852287] Chr4:54285375..54285376 [GRCh38]
Chr4:55151542..55151543 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003082089] Chr4:54278519 [GRCh38]
Chr4:55144686 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1636G>C (p.Val546Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002890202] Chr4:54274608 [GRCh38]
Chr4:55140775 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.472C>G (p.Pro158Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002740888] Chr4:54263771 [GRCh38]
Chr4:55129938 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.268G>A (p.Ala90Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003056261] Chr4:54261313 [GRCh38]
Chr4:55127480 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2803A>G (p.Ser935Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002828685] Chr4:54289037 [GRCh38]
Chr4:55155204 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932-17_932-15del deletion Gastrointestinal stromal tumor [RCV002625493] Chr4:54267535..54267537 [GRCh38]
Chr4:55133702..55133704 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+7G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002871843] Chr4:54287548 [GRCh38]
Chr4:55153715 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2440-5T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003058258] Chr4:54285836 [GRCh38]
Chr4:55152003 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.735T>A (p.Leu245=) single nucleotide variant Gastrointestinal stromal tumor [RCV002914551] Chr4:54265025 [GRCh38]
Chr4:55131192 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2136T>C (p.Pro712=) single nucleotide variant Gastrointestinal stromal tumor [RCV003082867] Chr4:54278495 [GRCh38]
Chr4:55144662 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-4C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002666631] Chr4:54295121 [GRCh38]
Chr4:55161288 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3128A>C (p.Gln1043Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV002801806] Chr4:54295130 [GRCh38]
Chr4:55161297 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1701_1702delinsGC (p.Asp568His) indel Gastrointestinal stromal tumor [RCV002890994] Chr4:54274888..54274889 [GRCh38]
Chr4:55141055..55141056 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1468T>C (p.Phe490Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003023710] Chr4:54273640 [GRCh38]
Chr4:55139807 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.760-8T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002872252] Chr4:54267281 [GRCh38]
Chr4:55133448 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1558+16G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002871747] Chr4:54273746 [GRCh38]
Chr4:55139913 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1697G>A (p.Ser566Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003022300] Chr4:54274884 [GRCh38]
Chr4:55141051 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003005401] Chr4:54287549 [GRCh38]
Chr4:55153716 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2318T>C (p.Met773Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002958288] Chr4:54280477 [GRCh38]
Chr4:55146644 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+13C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003040874] Chr4:54287554 [GRCh38]
Chr4:55153721 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.872C>T (p.Ala291Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003058816] Chr4:54267401 [GRCh38]
Chr4:55133568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+11G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002872577] Chr4:54287552 [GRCh38]
Chr4:55153719 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1043C>G (p.Ser348Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003040895] Chr4:54267663 [GRCh38]
Chr4:55133830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-17G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002765848] Chr4:54278345 [GRCh38]
Chr4:55144512 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.398_400del (p.Met133del) deletion Gastrointestinal stromal tumor [RCV003043343] Chr4:54263696..54263698 [GRCh38]
Chr4:55129863..55129865 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1364+18G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002625081] Chr4:54272538 [GRCh38]
Chr4:55138705 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.426T>G (p.Asp142Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002574610] Chr4:54263725 [GRCh38]
Chr4:55129892 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.894G>T (p.Glu298Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002829358] Chr4:54267423 [GRCh38]
Chr4:55133590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892-18G>C single nucleotide variant Gastrointestinal stromal tumor [RCV002712094] Chr4:54277878 [GRCh38]
Chr4:55144045 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+13G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002914808] Chr4:54274986 [GRCh38]
Chr4:55141153 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2002+9A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003023646] Chr4:54278015 [GRCh38]
Chr4:55144182 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003022687] Chr4:54277382 [GRCh38]
Chr4:55143549 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.555G>A (p.Gly185=) single nucleotide variant Gastrointestinal stromal tumor [RCV003040709] Chr4:54263854 [GRCh38]
Chr4:55130021 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+5G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002667493] Chr4:54287546 [GRCh38]
Chr4:55153713 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1048C>A (p.Leu350Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003023687] Chr4:54267668 [GRCh38]
Chr4:55133835 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2923C>T (p.Pro975Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003058103] Chr4:54290355 [GRCh38]
Chr4:55156522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2995A>G (p.Lys999Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003059333] Chr4:54290427 [GRCh38]
Chr4:55156594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+13G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002828192] Chr4:54258830 [GRCh38]
Chr4:55124997 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3251T>A (p.Val1084Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003043203] Chr4:54295253 [GRCh38]
Chr4:55161420 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+9A>G single nucleotide variant Gastrointestinal stromal tumor [RCV002828339] Chr4:54267750 [GRCh38]
Chr4:55133917 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1238-20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002711197] Chr4:54272374 [GRCh38]
Chr4:55138541 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2050A>C (p.Asn684His) single nucleotide variant Gastrointestinal stromal tumor [RCV002711881] Chr4:54278409 [GRCh38]
Chr4:55144576 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558+14C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003042458] Chr4:54273744 [GRCh38]
Chr4:55139911 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003085131] Chr4:54274515 [GRCh38]
Chr4:55140682 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+17C>G single nucleotide variant Gastrointestinal stromal tumor [RCV002932599] Chr4:54285503 [GRCh38]
Chr4:55151670 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.313A>C (p.Thr105Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV002664098] Chr4:54261358 [GRCh38]
Chr4:55127525 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-12G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002711522] Chr4:54290301 [GRCh38]
Chr4:55156468 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.465C>G (p.Pro155=) single nucleotide variant Gastrointestinal stromal tumor [RCV002701470] Chr4:54263764 [GRCh38]
Chr4:55129931 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1995del (p.Lys666fs) deletion Gastrointestinal stromal tumor [RCV002932998] Chr4:54277998 [GRCh38]
Chr4:55144165 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003005536] Chr4:54280304 [GRCh38]
Chr4:55146471 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2717A>G (p.Tyr906Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003057367] Chr4:54288841 [GRCh38]
Chr4:55155008 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1289G>A (p.Gly430Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003041654] Chr4:54272445 [GRCh38]
Chr4:55138612 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1565G>C (p.Arg522Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003040714] Chr4:54274537 [GRCh38]
Chr4:55140704 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2440-6A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003083367] Chr4:54285835 [GRCh38]
Chr4:55152002 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-6A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003029672] Chr4:54274525 [GRCh38]
Chr4:55140692 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2817G>A (p.Lys939=) single nucleotide variant Gastrointestinal stromal tumor [RCV003027470]|Hereditary cancer-predisposing syndrome [RCV003170910] Chr4:54289051 [GRCh38]
Chr4:55155218 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.42T>C (p.Leu14=) single nucleotide variant Gastrointestinal stromal tumor [RCV002601516] Chr4:54258810 [GRCh38]
Chr4:55124977 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1444A>G (p.Ser482Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003061988] Chr4:54273616 [GRCh38]
Chr4:55139783 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3071A>G (p.Asp1024Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV002833685] Chr4:54290503 [GRCh38]
Chr4:55156670 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.863A>G (p.Tyr288Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV002966064] Chr4:54267392 [GRCh38]
Chr4:55133559 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50-5T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003047474] Chr4:54261090 [GRCh38]
Chr4:55127257 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-20G>T single nucleotide variant Gastrointestinal stromal tumor [RCV002721247] Chr4:54267532 [GRCh38]
Chr4:55133699 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.236G>T (p.Gly79Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003044570] Chr4:54261281 [GRCh38]
Chr4:55127448 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.151G>A (p.Gly51Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002833161] Chr4:54261196 [GRCh38]
Chr4:55127363 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1132A>C (p.Lys378Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV003048233] Chr4:54270643 [GRCh38]
Chr4:55136810 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.955C>T (p.Pro319Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003048296]|Hereditary cancer-predisposing syndrome [RCV003340595] Chr4:54267575 [GRCh38]
Chr4:55133742 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2880+5del deletion Gastrointestinal stromal tumor [RCV002720487] Chr4:54289119 [GRCh38]
Chr4:55155286 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1540C>T (p.Leu514=) single nucleotide variant Gastrointestinal stromal tumor [RCV002833254] Chr4:54273712 [GRCh38]
Chr4:55139879 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.6G>T (p.Gly2=) single nucleotide variant Gastrointestinal stromal tumor [RCV002792094] Chr4:54258774 [GRCh38]
Chr4:55124941 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.808A>G (p.Lys270Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002602521] Chr4:54267337 [GRCh38]
Chr4:55133504 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.694G>T (p.Val232Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002651537] Chr4:54264984 [GRCh38]
Chr4:55131151 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.643G>C (p.Asp215His) single nucleotide variant Gastrointestinal stromal tumor [RCV003031383] Chr4:54264933 [GRCh38]
Chr4:55131100 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629-11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002646890] Chr4:54264908 [GRCh38]
Chr4:55131075 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2618C>G (p.Thr873Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002834233] Chr4:54287485 [GRCh38]
Chr4:55153652 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629-1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003044281] Chr4:54264918 [GRCh38]
Chr4:55131085 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1181T>G (p.Ile394Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003027766] Chr4:54270692 [GRCh38]
Chr4:55136859 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1318A>T (p.Thr440Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002746018] Chr4:54272474 [GRCh38]
Chr4:55138641 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2809C>T (p.Pro937Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002922263] Chr4:54289043 [GRCh38]
Chr4:55155210 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2764A>G (p.Thr922Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003008544] Chr4:54288888 [GRCh38]
Chr4:55155055 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2859G>T (p.Leu953=) single nucleotide variant Gastrointestinal stromal tumor [RCV003086928] Chr4:54289093 [GRCh38]
Chr4:55155260 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-19T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002599562] Chr4:54288990 [GRCh38]
Chr4:55155157 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1127G>T (p.Arg376Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002962532] Chr4:54270638 [GRCh38]
Chr4:55136805 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1278C>A (p.Gly426=) single nucleotide variant Gastrointestinal stromal tumor [RCV003044003] Chr4:54272434 [GRCh38]
Chr4:55138601 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2739C>G (p.Tyr913Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003009430] Chr4:54288863 [GRCh38]
Chr4:55155030 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1051A>C (p.Lys351Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV003009451] Chr4:54267671 [GRCh38]
Chr4:55133838 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3123-20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002937412] Chr4:54295105 [GRCh38]
Chr4:55161272 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-11T>C single nucleotide variant Gastrointestinal stromal tumor [RCV002937436] Chr4:54288998 [GRCh38]
Chr4:55155165 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3165C>G (p.Ser1055Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003028103] Chr4:54295167 [GRCh38]
Chr4:55161334 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1503C>T (p.Cys501=) single nucleotide variant Gastrointestinal stromal tumor [RCV002834132] Chr4:54273675 [GRCh38]
Chr4:55139842 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.684G>A (p.Gly228=) single nucleotide variant Gastrointestinal stromal tumor [RCV002899457] Chr4:54264974 [GRCh38]
Chr4:55131141 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.573C>T (p.Ala191=) single nucleotide variant Gastrointestinal stromal tumor [RCV002857220] Chr4:54263872 [GRCh38]
Chr4:55130039 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3190G>A (p.Asp1064Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003060478] Chr4:54295192 [GRCh38]
Chr4:55161359 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.939_940delinsGA (p.Phe314Ile) indel Gastrointestinal stromal tumor [RCV002746409] Chr4:54267559..54267560 [GRCh38]
Chr4:55133726..55133727 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3150T>A (p.Ile1050=) single nucleotide variant Gastrointestinal stromal tumor [RCV003087992] Chr4:54295152 [GRCh38]
Chr4:55161319 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2324-20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003086561] Chr4:54285351 [GRCh38]
Chr4:55151518 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1558+16G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003011213] Chr4:54273746 [GRCh38]
Chr4:55139913 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3008G>A (p.Trp1003Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV002834235] Chr4:54290440 [GRCh38]
Chr4:55156607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3165C>A (p.Ser1055Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002580781] Chr4:54295167 [GRCh38]
Chr4:55161334 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1073A>C (p.Glu358Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002578366] Chr4:54267693 [GRCh38]
Chr4:55133860 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2955C>A (p.Asp985Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002746050] Chr4:54290387 [GRCh38]
Chr4:55156554 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2907C>G (p.Phe969Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003061420] Chr4:54290339 [GRCh38]
Chr4:55156506 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2678G>T (p.Gly893Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003029864] Chr4:54288802 [GRCh38]
Chr4:55154969 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003063813] Chr4:54278361 [GRCh38]
Chr4:55144528 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1867A>G (p.Lys623Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV002900618] Chr4:54277468 [GRCh38]
Chr4:55143635 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.347A>G (p.His116Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002806860] Chr4:54261392 [GRCh38]
Chr4:55127559 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002834332] Chr4:54274513 [GRCh38]
Chr4:55140680 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2800A>C (p.Asn934His) single nucleotide variant Gastrointestinal stromal tumor [RCV002832783] Chr4:54289034 [GRCh38]
Chr4:55155201 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2290C>A (p.Arg764Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV002988868] Chr4:54280449 [GRCh38]
Chr4:55146616 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2336A>G (p.Lys779Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003064210] Chr4:54285383 [GRCh38]
Chr4:55151550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1891+9T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003031190] Chr4:54277501 [GRCh38]
Chr4:55143668 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+14G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002806092] Chr4:54274987 [GRCh38]
Chr4:55141154 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3209T>C (p.Ile1070Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003087663] Chr4:54295211 [GRCh38]
Chr4:55161378 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+10C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003065703] Chr4:54278016 [GRCh38]
Chr4:55144183 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3015T>G (p.Gly1005=) single nucleotide variant Gastrointestinal stromal tumor [RCV003062069] Chr4:54290447 [GRCh38]
Chr4:55156614 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3093G>A (p.Glu1031=) single nucleotide variant Gastrointestinal stromal tumor [RCV002806677] Chr4:54290525 [GRCh38]
Chr4:55156692 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3267G>A (p.Leu1089=) single nucleotide variant Gastrointestinal stromal tumor [RCV003091407] Chr4:54295269 [GRCh38]
Chr4:55161436 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1918G>A (p.Ala640Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003029099] Chr4:54277922 [GRCh38]
Chr4:55144089 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.368-8A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003063931] Chr4:54263659 [GRCh38]
Chr4:55129826 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+15C>A single nucleotide variant Gastrointestinal stromal tumor [RCV002627639] Chr4:54288913 [GRCh38]
Chr4:55155080 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122G>A (p.Arg374=) single nucleotide variant Gastrointestinal stromal tumor [RCV002933767] Chr4:54270633 [GRCh38]
Chr4:55136800 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.416T>C (p.Ile139Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003029160] Chr4:54263715 [GRCh38]
Chr4:55129882 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1143G>C (p.Leu381=) single nucleotide variant Gastrointestinal stromal tumor [RCV002834292] Chr4:54270654 [GRCh38]
Chr4:55136821 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-12G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003048406] Chr4:54274829 [GRCh38]
Chr4:55140996 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1108A>C (p.Ile370Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002631232]|Hereditary cancer-predisposing syndrome [RCV003340525] Chr4:54267728 [GRCh38]
Chr4:55133895 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1587T>C (p.Ala529=) single nucleotide variant Gastrointestinal stromal tumor [RCV003064035] Chr4:54274559 [GRCh38]
Chr4:55140726 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2532G>A (p.Met844Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003089745] Chr4:54285933 [GRCh38]
Chr4:55152100 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+4G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003086026] Chr4:54278010 [GRCh38]
Chr4:55144177 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.195G>A (p.Glu65=) single nucleotide variant Gastrointestinal stromal tumor [RCV003028901] Chr4:54261240 [GRCh38]
Chr4:55127407 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2874T>C (p.Tyr958=) single nucleotide variant Gastrointestinal stromal tumor [RCV002937972] Chr4:54289108 [GRCh38]
Chr4:55155275 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.64C>G (p.Leu22Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003048941] Chr4:54261109 [GRCh38]
Chr4:55127276 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.959C>A (p.Thr320Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV002584685] Chr4:54267579 [GRCh38]
Chr4:55133746 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+20G>A single nucleotide variant Gastrointestinal stromal tumor [RCV002653301] Chr4:54278026 [GRCh38]
Chr4:55144193 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2182A>G (p.Asn728Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV002658385] Chr4:54280341 [GRCh38]
Chr4:55146508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1751C>T (p.Ser584Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002605292] Chr4:54274938 [GRCh38]
Chr4:55141105 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3151G>A (p.Glu1051Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003052337] Chr4:54295153 [GRCh38]
Chr4:55161320 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1999T>A (p.Ser667Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002605452] Chr4:54278003 [GRCh38]
Chr4:55144170 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1162G>A (p.Asp388Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003072473]|Hereditary cancer-predisposing syndrome [RCV003294470] Chr4:54270673 [GRCh38]
Chr4:55136840 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2440-16T>G single nucleotide variant Gastrointestinal stromal tumor [RCV002943099] Chr4:54285825 [GRCh38]
Chr4:55151992 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3024T>C (p.Asp1008=) single nucleotide variant Gastrointestinal stromal tumor [RCV002586009] Chr4:54290456 [GRCh38]
Chr4:55156623 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2453A>T (p.Asp818Val) single nucleotide variant Inborn genetic diseases [RCV002724414] Chr4:54285854 [GRCh38]
Chr4:55152021 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365A>G (p.Lys455=) single nucleotide variant Gastrointestinal stromal tumor [RCV003070877] Chr4:54273537 [GRCh38]
Chr4:55139704 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1237+6T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003072013] Chr4:54270754 [GRCh38]
Chr4:55136921 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2060A>G (p.His687Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003073207] Chr4:54278419 [GRCh38]
Chr4:55144586 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1559-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002721921] Chr4:54274524 [GRCh38]
Chr4:55140691 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.135T>C (p.Phe45=) single nucleotide variant Gastrointestinal stromal tumor [RCV002588262] Chr4:54261180 [GRCh38]
Chr4:55127347 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.719A>C (p.Asn240Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV002586442] Chr4:54265009 [GRCh38]
Chr4:55131176 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1031C>A (p.Pro344His) single nucleotide variant Gastrointestinal stromal tumor [RCV002943419] Chr4:54267651 [GRCh38]
Chr4:55133818 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1984G>A (p.Gly662Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV002814434] Chr4:54277988 [GRCh38]
Chr4:55144155 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+11C>T single nucleotide variant Gastrointestinal stromal tumor [RCV002588583] Chr4:54258828 [GRCh38]
Chr4:55124995 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.85T>G (p.Ser29Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV002588603] Chr4:54261130 [GRCh38]
Chr4:55127297 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2367C>T (p.Gly789=) single nucleotide variant Gastrointestinal stromal tumor [RCV002814716] Chr4:54285414 [GRCh38]
Chr4:55151581 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003051514] Chr4:54258832 [GRCh38]
Chr4:55124999 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1329T>C (p.Pro443=) single nucleotide variant Gastrointestinal stromal tumor [RCV002611761]|Hereditary cancer-predisposing syndrome [RCV003274279] Chr4:54272485 [GRCh38]
Chr4:55138652 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2788G>C (p.Val930Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV002589465] Chr4:54289022 [GRCh38]
Chr4:55155189 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2757C>T (p.Asp919=) single nucleotide variant Gastrointestinal stromal tumor [RCV002610291]|Hereditary cancer-predisposing syndrome [RCV003368004] Chr4:54288881 [GRCh38]
Chr4:55155048 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.279C>T (p.Ala93=) single nucleotide variant Gastrointestinal stromal tumor [RCV002942187] Chr4:54261324 [GRCh38]
Chr4:55127491 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+13C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003092375] Chr4:54287554 [GRCh38]
Chr4:55153721 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2955C>G (p.Asp985Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296560] Chr4:54290387 [GRCh38]
Chr4:55156554 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.558C>A (p.Pro186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297527] Chr4:54263857 [GRCh38]
Chr4:55130024 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2767A>G (p.Ser923Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297528] Chr4:54288891 [GRCh38]
Chr4:55155058 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2848G>A (p.Val950Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003297534] Chr4:54289082 [GRCh38]
Chr4:55155249 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1743T>C (p.Pro581=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187982] Chr4:54274930 [GRCh38]
Chr4:55141097 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2794T>G (p.Cys932Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187983] Chr4:54289028 [GRCh38]
Chr4:55155195 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1701A>T (p.Pro567=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188002] Chr4:54274888 [GRCh38]
Chr4:55141055 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1043C>A (p.Ser348Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176466] Chr4:54267663 [GRCh38]
Chr4:55133830 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1289G>C (p.Gly430Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216294] Chr4:54272445 [GRCh38]
Chr4:55138612 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.419T>C (p.Val140Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165272] Chr4:54263718 [GRCh38]
Chr4:55129885 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1337A>G (p.Glu446Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003638914]|Hereditary cancer-predisposing syndrome [RCV003165273] Chr4:54272493 [GRCh38]
Chr4:55138660 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1481A>G (p.Glu494Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165274] Chr4:54273653 [GRCh38]
Chr4:55139820 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3188A>C (p.Glu1063Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187998] Chr4:54295190 [GRCh38]
Chr4:55161357 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2852A>G (p.Glu951Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187999] Chr4:54289086 [GRCh38]
Chr4:55155253 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1502G>A (p.Cys501Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188000] Chr4:54273674 [GRCh38]
Chr4:55139841 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1448C>G (p.Thr483Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188003] Chr4:54273620 [GRCh38]
Chr4:55139787 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1734G>A (p.Met578Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188004] Chr4:54274921 [GRCh38]
Chr4:55141088 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1919C>A (p.Ala640Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188005] Chr4:54277923 [GRCh38]
Chr4:55144090 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2149A>T (p.Thr717Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188006] Chr4:54278508 [GRCh38]
Chr4:55144675 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3263T>G (p.Phe1088Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165271] Chr4:54295265 [GRCh38]
Chr4:55161432 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2429C>G (p.Ala810Gly) single nucleotide variant Idiopathic hypereosinophilic syndrome [RCV003134781] Chr4:54285476 [GRCh38]
Chr4:55151643 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2274G>C (p.Gln758His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003283488] Chr4:54280433 [GRCh38]
Chr4:55146600 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1211G>C (p.Ser404Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003525387]|Hereditary cancer-predisposing syndrome [RCV003283489] Chr4:54270722 [GRCh38]
Chr4:55136889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2091C>T (p.His697=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187984] Chr4:54278450 [GRCh38]
Chr4:55144617 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2161G>A (p.Val721Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003779587]|Hereditary cancer-predisposing syndrome [RCV003187985] Chr4:54280320 [GRCh38]
Chr4:55146487 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2467A>G (p.Asn823Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187986] Chr4:54285868 [GRCh38]
Chr4:55152035 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2605G>T (p.Asp869Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187987] Chr4:54287472 [GRCh38]
Chr4:55153639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1679G>C (p.Arg560Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187988] Chr4:54274866 [GRCh38]
Chr4:55141033 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.281A>T (p.His94Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003525370]|Hereditary cancer-predisposing syndrome [RCV003187992] Chr4:54261326 [GRCh38]
Chr4:55127493 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.218A>T (p.Asn73Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187993] Chr4:54261263 [GRCh38]
Chr4:55127430 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.546C>T (p.Phe182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187994] Chr4:54263845 [GRCh38]
Chr4:55130012 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2971G>A (p.Val991Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188007] Chr4:54290403 [GRCh38]
Chr4:55156570 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1706G>A (p.Gly569Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188008] Chr4:54274893 [GRCh38]
Chr4:55141060 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2756A>G (p.Asp919Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188009] Chr4:54288880 [GRCh38]
Chr4:55155047 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3214A>C (p.Met1072Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188010] Chr4:54295216 [GRCh38]
Chr4:55161383 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.157A>G (p.Ser53Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188011] Chr4:54261202 [GRCh38]
Chr4:55127369 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1488C>A (p.Thr496=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188012] Chr4:54273660 [GRCh38]
Chr4:55139827 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.424G>T (p.Asp142Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187989] Chr4:54263723 [GRCh38]
Chr4:55129890 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1586C>T (p.Ala529Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003638917]|Hereditary cancer-predisposing syndrome [RCV003187990] Chr4:54274558 [GRCh38]
Chr4:55140725 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2107A>G (p.Lys703Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003779588]|Hereditary cancer-predisposing syndrome [RCV003187991] Chr4:54278466 [GRCh38]
Chr4:55144633 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2668T>G (p.Ser890Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187995] Chr4:54287535 [GRCh38]
Chr4:55153702 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.287G>C (p.Gly96Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187996] Chr4:54261332 [GRCh38]
Chr4:55127499 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.280C>T (p.His94Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003187997] Chr4:54261325 [GRCh38]
Chr4:55127492 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3163A>T (p.Ser1055Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003188001] Chr4:54295165 [GRCh38]
Chr4:55161332 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.865G>C (p.Glu289Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003377939]|not provided [RCV003159534] Chr4:54267394 [GRCh38]
Chr4:55133561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.305A>G (p.Tyr102Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176465] Chr4:54261350 [GRCh38]
Chr4:55127517 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3206_3211delinsGCATCA (p.Asp1069_Asp1071delinsGlyIleAsn) indel not provided [RCV003325844] Chr4:54295208..54295213 [GRCh38]
Chr4:55161375..55161380 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_006206.6(PDGFRA):c.1508C>T (p.Ala503Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339272] Chr4:54273680 [GRCh38]
Chr4:55139847 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2200A>G (p.Met734Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339278] Chr4:54280359 [GRCh38]
Chr4:55146526 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1960C>T (p.His654Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339282] Chr4:54277964 [GRCh38]
Chr4:55144131 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.9T>A (p.Thr3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339287] Chr4:54258777 [GRCh38]
Chr4:55124944 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1018C>G (p.Arg340Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339288] Chr4:54267638 [GRCh38]
Chr4:55133805 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2400T>C (p.Tyr800=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339281] Chr4:54285447 [GRCh38]
Chr4:55151614 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.662T>G (p.Leu221Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339279] Chr4:54264952 [GRCh38]
Chr4:55131119 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2103A>G (p.Pro701=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339284] Chr4:54278462 [GRCh38]
Chr4:55144629 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1538A>G (p.Glu513Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339285] Chr4:54273710 [GRCh38]
Chr4:55139877 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.362T>G (p.Val121Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003344185] Chr4:54261407 [GRCh38]
Chr4:55127574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1279T>G (p.Ser427Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003344187] Chr4:54272435 [GRCh38]
Chr4:55138602 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.90C>T (p.Ile30=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003344186] Chr4:54261135 [GRCh38]
Chr4:55127302 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.304T>C (p.Tyr102His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003344184] Chr4:54261349 [GRCh38]
Chr4:55127516 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.173A>G (p.Gln58Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003638945]|Hereditary cancer-predisposing syndrome [RCV003367355] Chr4:54261218 [GRCh38]
Chr4:55127385 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.907A>G (p.Lys303Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003367370] Chr4:54267436 [GRCh38]
Chr4:55133603 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+1195C>T single nucleotide variant PDGFRA-related condition [RCV003419101] Chr4:54281677 [GRCh38]
Chr4:55147844 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3173C>A (p.Thr1058Asn) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476719] Chr4:54295175 [GRCh38]
Chr4:55161342 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1556C>A (p.Pro519His) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476726] Chr4:54273728 [GRCh38]
Chr4:55139895 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.367+14G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003873340] Chr4:54261426 [GRCh38]
Chr4:55127593 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1589C>T (p.Ala530Val) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476723] Chr4:54274561 [GRCh38]
Chr4:55140728 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2195T>C (p.Met732Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003873549] Chr4:54280354 [GRCh38]
Chr4:55146521 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3122+19T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003875711] Chr4:54290573 [GRCh38]
Chr4:55156740 [GRCh37]
Chr4:4q12		 likely benign
GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1 copy number loss not provided [RCV003485416] Chr4:52685685..61903883 [GRCh37]
Chr4:4q11-13.1		 pathogenic
NM_006206.6(PDGFRA):c.2922T>A (p.His974Gln) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476716] Chr4:54290354 [GRCh38]
Chr4:55156521 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1736A>G (p.Gln579Arg) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476720] Chr4:54274923 [GRCh38]
Chr4:55141090 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2054A>G (p.Tyr685Cys) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476722] Chr4:54278413 [GRCh38]
Chr4:55144580 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2186G>A (p.Gly729Asp) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476713] Chr4:54280345 [GRCh38]
Chr4:55146512 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.502G>T (p.Val168Leu) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476717] Chr4:54263801 [GRCh38]
Chr4:55129968 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2120T>G (p.Ile707Ser) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476725] Chr4:54278479 [GRCh38]
Chr4:55144646 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4q12(chr4:54280346-55271175)x3 copy number gain not provided [RCV003484180] Chr4:54280346..55271175 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.506C>T (p.Pro169Leu) single nucleotide variant not provided [RCV003441465] Chr4:54263805 [GRCh38]
Chr4:55129972 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2840G>A (p.Ser947Asn) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476715] Chr4:54289074 [GRCh38]
Chr4:55155241 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1102G>A (p.Glu368Lys) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476728] Chr4:54267722 [GRCh38]
Chr4:55133889 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.309_310delinsAA (p.Asn103_His104delinsLysAsn) indel Gastrointestinal stromal tumor [RCV003638964]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476721] Chr4:54261354..54261355 [GRCh38]
Chr4:55127521..55127522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2235G>T (p.Met745Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003638965]|Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476727] Chr4:54280394 [GRCh38]
Chr4:55146561 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1616T>A (p.Ile539Asn) single nucleotide variant Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal [RCV003476718] Chr4:54274588 [GRCh38]
Chr4:55140755 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.-13+5069G>A single nucleotide variant PDGFRA-related condition [RCV003414510] Chr4:54234484 [GRCh38]
Chr4:55100651 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.*1136C>T single nucleotide variant not provided [RCV003435018] Chr4:54296408 [GRCh38]
Chr4:55162575 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.932-10C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527568] Chr4:54267542 [GRCh38]
Chr4:55133709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+11G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003527599] Chr4:54285497 [GRCh38]
Chr4:55151664 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2218A>G (p.Thr740Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003527610] Chr4:54280377 [GRCh38]
Chr4:55146544 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.760-15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003527327] Chr4:54267274 [GRCh38]
Chr4:55133441 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2148C>T (p.Ser716=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526327] Chr4:54278507 [GRCh38]
Chr4:55144674 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1555C>T (p.Pro519Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003527435] Chr4:54273727 [GRCh38]
Chr4:55139894 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.391C>G (p.Leu131Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003526461] Chr4:54263690 [GRCh38]
Chr4:55129857 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+18A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527620] Chr4:54274643 [GRCh38]
Chr4:55140810 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2670C>T (p.Ser890=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526293] Chr4:54287537 [GRCh38]
Chr4:55153704 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.141G>A (p.Leu47=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526500] Chr4:54261186 [GRCh38]
Chr4:55127353 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1377A>G (p.Glu459=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526401] Chr4:54273549 [GRCh38]
Chr4:55139716 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1354G>C (p.Asp452His) single nucleotide variant Gastrointestinal stromal tumor [RCV003527638] Chr4:54272510 [GRCh38]
Chr4:55138677 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.488A>C (p.Asn163Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003526454] Chr4:54263787 [GRCh38]
Chr4:55129954 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2938A>T (p.Met980Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003526484] Chr4:54290370 [GRCh38]
Chr4:55156537 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1807G>T (p.Ala603Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003526527] Chr4:54277408 [GRCh38]
Chr4:55143575 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2012A>G (p.Tyr671Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003527628] Chr4:54278371 [GRCh38]
Chr4:55144538 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1214A>C (p.Tyr405Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003526596] Chr4:54270725 [GRCh38]
Chr4:55136892 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-9T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003526608] Chr4:54290304 [GRCh38]
Chr4:55156471 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-15C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003827509] Chr4:54274826 [GRCh38]
Chr4:55140993 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+10del deletion Gastrointestinal stromal tumor [RCV003525505] Chr4:54265057 [GRCh38]
Chr4:55131224 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+12G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003525534] Chr4:54290566 [GRCh38]
Chr4:55156733 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-14C>A single nucleotide variant Gastrointestinal stromal tumor [RCV003525573] Chr4:54270619 [GRCh38]
Chr4:55136786 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1787-8G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003525616] Chr4:54277380 [GRCh38]
Chr4:55143547 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.50-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003527138] Chr4:54261092 [GRCh38]
Chr4:55127259 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558+1G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003525709] Chr4:54273731 [GRCh38]
Chr4:55139898 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.296C>G (p.Thr99Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003527237] Chr4:54261341 [GRCh38]
Chr4:55127508 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.954A>T (p.Lys318Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003527098] Chr4:54267574 [GRCh38]
Chr4:55133741 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1892C>T (p.Pro631Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003525779] Chr4:54277896 [GRCh38]
Chr4:55144063 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.237C>T (p.Gly79=) single nucleotide variant Gastrointestinal stromal tumor [RCV003525803] Chr4:54261282 [GRCh38]
Chr4:55127449 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527314] Chr4:54263943 [GRCh38]
Chr4:55130110 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3222_3223inv (p.Asp1075Asn) inversion Gastrointestinal stromal tumor [RCV003525742] Chr4:54295224..54295225 [GRCh38]
Chr4:55161391..55161392 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1787-16_1787-15dup duplication Gastrointestinal stromal tumor [RCV003525765] Chr4:54277371..54277372 [GRCh38]
Chr4:55143538..55143539 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1904C>G (p.Ser635Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003527211] Chr4:54277908 [GRCh38]
Chr4:55144075 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775-6C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003527491] Chr4:54289003 [GRCh38]
Chr4:55155170 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1379C>G (p.Thr460Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003527506] Chr4:54273551 [GRCh38]
Chr4:55139718 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.34G>A (p.Gly12Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003527544] Chr4:54258802 [GRCh38]
Chr4:55124969 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1738C>T (p.Leu580=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526907] Chr4:54274925 [GRCh38]
Chr4:55141092 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.385G>A (p.Val129Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003527571] Chr4:54263684 [GRCh38]
Chr4:55129851 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.165G>A (p.Val55=) single nucleotide variant Gastrointestinal stromal tumor [RCV003527580] Chr4:54261210 [GRCh38]
Chr4:55127377 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+11G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003527021] Chr4:54290565 [GRCh38]
Chr4:55156732 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003527555] Chr4:54265053 [GRCh38]
Chr4:55131220 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2806G>A (p.Glu936Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003527583] Chr4:54289040 [GRCh38]
Chr4:55155207 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.115G>C (p.Val39Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003527592] Chr4:54261160 [GRCh38]
Chr4:55127327 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-7T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003830519] Chr4:54270626 [GRCh38]
Chr4:55136793 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2700G>A (p.Met900Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003525454] Chr4:54288824 [GRCh38]
Chr4:55154991 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50-19A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003525460] Chr4:54261076 [GRCh38]
Chr4:55127243 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1267G>C (p.Asp423His) single nucleotide variant Gastrointestinal stromal tumor [RCV003525435] Chr4:54272423 [GRCh38]
Chr4:55138590 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1010T>C (p.Val337Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003526383] Chr4:54267630 [GRCh38]
Chr4:55133797 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1238-19T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527018] Chr4:54272375 [GRCh38]
Chr4:55138542 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1208A>C (p.Lys403Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003527230] Chr4:54270719 [GRCh38]
Chr4:55136886 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.229A>C (p.Asn77His) single nucleotide variant Gastrointestinal stromal tumor [RCV003526442] Chr4:54261274 [GRCh38]
Chr4:55127441 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.932-17A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003525586] Chr4:54267535 [GRCh38]
Chr4:55133702 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1346T>C (p.Ile449Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003526466] Chr4:54272502 [GRCh38]
Chr4:55138669 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+16G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003526468] Chr4:54267757 [GRCh38]
Chr4:55133924 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3196A>T (p.Thr1066Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003526489] Chr4:54295198 [GRCh38]
Chr4:55161365 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2736G>C (p.Gly912=) single nucleotide variant Gastrointestinal stromal tumor [RCV003525672] Chr4:54288860 [GRCh38]
Chr4:55155027 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3122+16G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003527169] Chr4:54290570 [GRCh38]
Chr4:55156737 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1237+12G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003877934] Chr4:54270760 [GRCh38]
Chr4:55136927 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2062A>G (p.Lys688Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003526615] Chr4:54278421 [GRCh38]
Chr4:55144588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-19G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003527227] Chr4:54290294 [GRCh38]
Chr4:55156461 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+16A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003526637] Chr4:54288914 [GRCh38]
Chr4:55155081 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2948A>G (p.Asp983Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003527416] Chr4:54290380 [GRCh38]
Chr4:55156547 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2324-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003880923] Chr4:54285368 [GRCh38]
Chr4:55151535 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.207G>A (p.Val69=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526784] Chr4:54261252 [GRCh38]
Chr4:55127419 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+12C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003526566] Chr4:54285975 [GRCh38]
Chr4:55152142 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2691del (p.Gly898fs) deletion Gastrointestinal stromal tumor [RCV003526580] Chr4:54288812 [GRCh38]
Chr4:55154979 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-14T>A single nucleotide variant Gastrointestinal stromal tumor [RCV003527167] Chr4:54280302 [GRCh38]
Chr4:55146469 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1788T>A (p.Gly596=) single nucleotide variant Gastrointestinal stromal tumor [RCV003525464] Chr4:54277389 [GRCh38]
Chr4:55143556 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.194A>G (p.Glu65Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003525498] Chr4:54261239 [GRCh38]
Chr4:55127406 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+12A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003527615] Chr4:54287553 [GRCh38]
Chr4:55153720 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1801T>A (p.Ser601Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003525427] Chr4:54277402 [GRCh38]
Chr4:55143569 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-5T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003525578] Chr4:54290308 [GRCh38]
Chr4:55156475 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3067C>T (p.Pro1023Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003527332] Chr4:54290499 [GRCh38]
Chr4:55156666 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2104A>T (p.Lys702Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003525608] Chr4:54278463 [GRCh38]
Chr4:55144630 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.629-20G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003526790] Chr4:54264899 [GRCh38]
Chr4:55131066 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.624A>C (p.Leu208Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003880665] Chr4:54263923 [GRCh38]
Chr4:55130090 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+18C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003525717] Chr4:54287559 [GRCh38]
Chr4:55153726 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2750_2759dup (p.His920delinsGlnAlaTer) duplication Gastrointestinal stromal tumor [RCV003525718] Chr4:54288870..54288871 [GRCh38]
Chr4:55155037..55155038 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2703G>T (p.Val901=) single nucleotide variant Gastrointestinal stromal tumor [RCV003527306] Chr4:54288827 [GRCh38]
Chr4:55154994 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2774+2T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527403] Chr4:54288900 [GRCh38]
Chr4:55155067 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2336A>T (p.Lys779Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003525837] Chr4:54285383 [GRCh38]
Chr4:55151550 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3173C>G (p.Thr1058Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003525756] Chr4:54295175 [GRCh38]
Chr4:55161342 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.49+20C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003527451] Chr4:54258837 [GRCh38]
Chr4:55125004 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1179T>C (p.Thr393=) single nucleotide variant Gastrointestinal stromal tumor [RCV003527453] Chr4:54270690 [GRCh38]
Chr4:55136857 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1618A>G (p.Ile540Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003527464] Chr4:54274590 [GRCh38]
Chr4:55140757 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.321A>C (p.Thr107=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526990] Chr4:54261366 [GRCh38]
Chr4:55127533 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.594C>A (p.Phe198Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003527488] Chr4:54263893 [GRCh38]
Chr4:55130060 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1872dup (p.Ala625fs) duplication Gastrointestinal stromal tumor [RCV003527040] Chr4:54277471..54277472 [GRCh38]
Chr4:55143638..55143639 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2156+19G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003527054] Chr4:54278534 [GRCh38]
Chr4:55144701 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1365-16C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003526300] Chr4:54273521 [GRCh38]
Chr4:55139688 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1855C>T (p.Gln619Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003526309] Chr4:54277456 [GRCh38]
Chr4:55143623 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-20C>A single nucleotide variant Gastrointestinal stromal tumor [RCV003527068] Chr4:54270613 [GRCh38]
Chr4:55136780 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3172A>G (p.Thr1058Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003527075] Chr4:54295174 [GRCh38]
Chr4:55161341 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.149T>A (p.Phe50Tyr) single nucleotide variant Gastrointestinal stromal tumor [RCV003527536] Chr4:54261194 [GRCh38]
Chr4:55127361 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2774+15del deletion Gastrointestinal stromal tumor [RCV003526372] Chr4:54288910 [GRCh38]
Chr4:55155077 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2003-5C>A single nucleotide variant Gastrointestinal stromal tumor [RCV003526494] Chr4:54278357 [GRCh38]
Chr4:55144524 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.676A>G (p.Lys226Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003526533] Chr4:54264966 [GRCh38]
Chr4:55131133 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.646C>T (p.Leu216=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526547] Chr4:54264936 [GRCh38]
Chr4:55131103 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1612G>A (p.Val538Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003527431] Chr4:54274584 [GRCh38]
Chr4:55140751 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2325C>A (p.Asp775Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003525432] Chr4:54285372 [GRCh38]
Chr4:55151539 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1570G>T (p.Glu524Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003525521] Chr4:54274542 [GRCh38]
Chr4:55140709 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+4G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003525838] Chr4:54278010 [GRCh38]
Chr4:55144177 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3122+11_3122+12insT insertion Gastrointestinal stromal tumor [RCV003525533] Chr4:54290565..54290566 [GRCh38]
Chr4:55156732..55156733 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3117A>G (p.Arg1039=) single nucleotide variant Gastrointestinal stromal tumor [RCV003880021] Chr4:54290549 [GRCh38]
Chr4:55156716 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.318G>C (p.Gln106His) single nucleotide variant Gastrointestinal stromal tumor [RCV003525562] Chr4:54261363 [GRCh38]
Chr4:55127530 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1882A>T (p.Met628Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003525568] Chr4:54277483 [GRCh38]
Chr4:55143650 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775-16A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003526893] Chr4:54288993 [GRCh38]
Chr4:55155160 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1748A>G (p.Asp583Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003526240] Chr4:54274935 [GRCh38]
Chr4:55141102 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1473C>T (p.Ala491=) single nucleotide variant Gastrointestinal stromal tumor [RCV003877729] Chr4:54273645 [GRCh38]
Chr4:55139812 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2544del (p.Tyr849fs) deletion Gastrointestinal stromal tumor [RCV003526247] Chr4:54285945 [GRCh38]
Chr4:55152112 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1068G>T (p.Leu356=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526269] Chr4:54267688 [GRCh38]
Chr4:55133855 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2372C>T (p.Thr791Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003525591] Chr4:54285419 [GRCh38]
Chr4:55151586 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.906G>C (p.Met302Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003525676] Chr4:54267435 [GRCh38]
Chr4:55133602 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1087A>G (p.Ile363Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003525679] Chr4:54267707 [GRCh38]
Chr4:55133874 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-10G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003525680] Chr4:54280306 [GRCh38]
Chr4:55146473 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.790A>C (p.Ile264Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003526306] Chr4:54267319 [GRCh38]
Chr4:55133486 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1215T>C (p.Tyr405=) single nucleotide variant Gastrointestinal stromal tumor [RCV003525724] Chr4:54270726 [GRCh38]
Chr4:55136893 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.759+19T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003525740] Chr4:54265068 [GRCh38]
Chr4:55131235 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1097A>C (p.Asp366Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003526444] Chr4:54267717 [GRCh38]
Chr4:55133884 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3121A>G (p.Ser1041Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003526663] Chr4:54290553 [GRCh38]
Chr4:55156720 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1402_1404del (p.Asn468del) deletion Gastrointestinal stromal tumor [RCV003882107] Chr4:54273574..54273576 [GRCh38]
Chr4:55139741..55139743 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.891G>C (p.Arg297Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003526514] Chr4:54267420 [GRCh38]
Chr4:55133587 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2157-18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003526734] Chr4:54280298 [GRCh38]
Chr4:55146465 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1889A>C (p.Lys630Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003525456] Chr4:54277490 [GRCh38]
Chr4:55143657 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2002+16T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003525458] Chr4:54278022 [GRCh38]
Chr4:55144189 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1419_1420delinsTC (p.Thr474Pro) indel Gastrointestinal stromal tumor [RCV003525479] Chr4:54273591..54273592 [GRCh38]
Chr4:55139758..55139759 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1528G>A (p.Glu510Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003526561] Chr4:54273700 [GRCh38]
Chr4:55139867 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1891+10C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003526756] Chr4:54277502 [GRCh38]
Chr4:55143669 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2367C>A (p.Gly789=) single nucleotide variant Gastrointestinal stromal tumor [RCV003526758] Chr4:54285414 [GRCh38]
Chr4:55151581 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.951C>T (p.Ile317=) single nucleotide variant Gastrointestinal stromal tumor [RCV003525487] Chr4:54267571 [GRCh38]
Chr4:55133738 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003526595] Chr4:54295122 [GRCh38]
Chr4:55161289 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1064C>A (p.Thr355Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003832149] Chr4:54267684 [GRCh38]
Chr4:55133851 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.628+4C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003836829] Chr4:54263931 [GRCh38]
Chr4:55130098 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1365-9T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003855974] Chr4:54273528 [GRCh38]
Chr4:55139695 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3090G>A (p.Glu1030=) single nucleotide variant Gastrointestinal stromal tumor [RCV003856374] Chr4:54290522 [GRCh38]
Chr4:55156689 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1654-17G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003835414] Chr4:54274824 [GRCh38]
Chr4:55140991 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.218A>G (p.Asn73Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003814194] Chr4:54261263 [GRCh38]
Chr4:55127430 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+8T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003811316] Chr4:54280490 [GRCh38]
Chr4:55146657 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1518C>G (p.Leu506=) single nucleotide variant Gastrointestinal stromal tumor [RCV003814195] Chr4:54273690 [GRCh38]
Chr4:55139857 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+20C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003815141] Chr4:54263947 [GRCh38]
Chr4:55130114 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1182T>C (p.Ile394=) single nucleotide variant Gastrointestinal stromal tumor [RCV003815956] Chr4:54270693 [GRCh38]
Chr4:55136860 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1703A>G (p.Asp568Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003639786] Chr4:54274890 [GRCh38]
Chr4:55141057 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2440-17C>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639934] Chr4:54285824 [GRCh38]
Chr4:55151991 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2415A>C (p.Gly805=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640008] Chr4:54285462 [GRCh38]
Chr4:55151629 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1786+15G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639248] Chr4:54274988 [GRCh38]
Chr4:55141155 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.654G>T (p.Met218Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003640066] Chr4:54264944 [GRCh38]
Chr4:55131111 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+1G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003640076] Chr4:54285487 [GRCh38]
Chr4:55151654 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.564C>A (p.Ile188=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640115] Chr4:54263863 [GRCh38]
Chr4:55130030 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1927T>A (p.Ser643Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003639069] Chr4:54277931 [GRCh38]
Chr4:55144098 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2199C>T (p.Asp733=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639073] Chr4:54280358 [GRCh38]
Chr4:55146525 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-20G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003640222] Chr4:54287410 [GRCh38]
Chr4:55153577 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.375T>A (p.Asp125Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640260] Chr4:54263674 [GRCh38]
Chr4:55129841 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1848C>T (p.Ser616=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639609] Chr4:54277449 [GRCh38]
Chr4:55143616 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3037A>G (p.Ser1013Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003639614] Chr4:54290469 [GRCh38]
Chr4:55156636 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2349A>G (p.Ser783=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639617] Chr4:54285396 [GRCh38]
Chr4:55151563 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3050G>C (p.Gly1017Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003640321] Chr4:54290482 [GRCh38]
Chr4:55156649 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2932del (p.Ala978fs) deletion Gastrointestinal stromal tumor [RCV003640356] Chr4:54290363 [GRCh38]
Chr4:55156530 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2247A>G (p.Lys749=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638163] Chr4:54280406 [GRCh38]
Chr4:55146573 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2277A>G (p.Arg759=) single nucleotide variant Gastrointestinal stromal tumor [RCV003864165] Chr4:54280436 [GRCh38]
Chr4:55146603 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2607C>A (p.Asp869Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003639891] Chr4:54287474 [GRCh38]
Chr4:55153641 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3228C>A (p.Ile1076=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639791] Chr4:54295230 [GRCh38]
Chr4:55161397 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2069G>C (p.Arg690Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003639966] Chr4:54278428 [GRCh38]
Chr4:55144595 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1743T>G (p.Pro581=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639621] Chr4:54274930 [GRCh38]
Chr4:55141097 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.410T>C (p.Leu137Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003639641] Chr4:54263709 [GRCh38]
Chr4:55129876 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2893A>T (p.Ile965Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003639673] Chr4:54290325 [GRCh38]
Chr4:55156492 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1338G>C (p.Glu446Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003639990] Chr4:54272494 [GRCh38]
Chr4:55138661 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1109T>G (p.Ile370Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003639949] Chr4:54267729 [GRCh38]
Chr4:55133896 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.486C>A (p.His162Gln) single nucleotide variant Gastrointestinal stromal tumor [RCV003640034] Chr4:54263785 [GRCh38]
Chr4:55129952 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1654-10T>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639156] Chr4:54274831 [GRCh38]
Chr4:55140998 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1232C>G (p.Thr411Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003640097] Chr4:54270743 [GRCh38]
Chr4:55136910 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2092C>T (p.Pro698Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003640182] Chr4:54278451 [GRCh38]
Chr4:55144618 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2775-4A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003638216] Chr4:54289005 [GRCh38]
Chr4:55155172 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-19T>A single nucleotide variant Gastrointestinal stromal tumor [RCV003638268] Chr4:54295106 [GRCh38]
Chr4:55161273 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+12_2562+13inv inversion Gastrointestinal stromal tumor [RCV003639863] Chr4:54285975..54285976 [GRCh38]
Chr4:55152142..55152143 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.368-15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003638355] Chr4:54263652 [GRCh38]
Chr4:55129819 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.607T>C (p.Phe203Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003639972] Chr4:54263906 [GRCh38]
Chr4:55130073 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003640061] Chr4:54285983 [GRCh38]
Chr4:55152150 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1105A>G (p.Lys369Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640352] Chr4:54267725 [GRCh38]
Chr4:55133892 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.814G>A (p.Val272Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003639503] Chr4:54267343 [GRCh38]
Chr4:55133510 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.373G>C (p.Asp125His) single nucleotide variant Gastrointestinal stromal tumor [RCV003847158] Chr4:54263672 [GRCh38]
Chr4:55129839 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2104A>G (p.Lys702Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003638390] Chr4:54278463 [GRCh38]
Chr4:55144630 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.493G>A (p.Glu165Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003638238] Chr4:54263792 [GRCh38]
Chr4:55129959 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.284C>T (p.Thr95Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003640109] Chr4:54261329 [GRCh38]
Chr4:55127496 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1038G>C (p.Arg346Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003639659] Chr4:54267658 [GRCh38]
Chr4:55133825 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2901G>A (p.Leu967=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639701] Chr4:54290333 [GRCh38]
Chr4:55156500 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.50-18G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003640334] Chr4:54261077 [GRCh38]
Chr4:55127244 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3000G>T (p.Leu1000=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640351] Chr4:54290432 [GRCh38]
Chr4:55156599 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.762A>G (p.Lys254=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639018] Chr4:54267291 [GRCh38]
Chr4:55133458 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.597G>A (p.Gln199=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638157] Chr4:54263896 [GRCh38]
Chr4:55130063 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.747C>G (p.Tyr249Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003639867] Chr4:54265037 [GRCh38]
Chr4:55131204 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1654-21_1654-18del deletion Gastrointestinal stromal tumor [RCV003639905] Chr4:54274819..54274822 [GRCh38]
Chr4:55140986..55140989 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.438del (p.Ile147fs) deletion Gastrointestinal stromal tumor [RCV003639799] Chr4:54263736 [GRCh38]
Chr4:55129903 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2448C>T (p.His816=) single nucleotide variant Gastrointestinal stromal tumor [RCV003820752] Chr4:54285849 [GRCh38]
Chr4:55152016 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3123-18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638991] Chr4:54295107 [GRCh38]
Chr4:55161274 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3199A>G (p.Ile1067Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003841857] Chr4:54295201 [GRCh38]
Chr4:55161368 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562T>C (p.Ser854=) single nucleotide variant Gastrointestinal stromal tumor [RCV003869022] Chr4:54285963 [GRCh38]
Chr4:55152130 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-14T>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639213] Chr4:54278348 [GRCh38]
Chr4:55144515 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.684G>C (p.Gly228=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639322] Chr4:54264974 [GRCh38]
Chr4:55131141 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2880+17G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639494] Chr4:54289131 [GRCh38]
Chr4:55155298 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1533C>A (p.Asn511Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003639543] Chr4:54273705 [GRCh38]
Chr4:55139872 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2391C>T (p.Ser797=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639619] Chr4:54285438 [GRCh38]
Chr4:55151605 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1A>G (p.Met1Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003639676] Chr4:54258769 [GRCh38]
Chr4:55124936 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1225C>A (p.Leu409Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003639586] Chr4:54270736 [GRCh38]
Chr4:55136903 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-16G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639723] Chr4:54278346 [GRCh38]
Chr4:55144513 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2775-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638176] Chr4:54289002 [GRCh38]
Chr4:55155169 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3187_3196del (p.Glu1063fs) deletion Gastrointestinal stromal tumor [RCV003639848] Chr4:54295185..54295194 [GRCh38]
Chr4:55161352..55161361 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3122+18C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639857] Chr4:54290572 [GRCh38]
Chr4:55156739 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2007C>T (p.Pro669=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639882] Chr4:54278366 [GRCh38]
Chr4:55144533 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.657A>C (p.Glu219Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003638184] Chr4:54264947 [GRCh38]
Chr4:55131114 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1268A>G (p.Asp423Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003638189] Chr4:54272424 [GRCh38]
Chr4:55138591 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3122+17C>G single nucleotide variant Gastrointestinal stromal tumor [RCV003639892] Chr4:54290571 [GRCh38]
Chr4:55156738 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2181C>G (p.Asn727Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003639945] Chr4:54280340 [GRCh38]
Chr4:55146507 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-20T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003638280] Chr4:54290293 [GRCh38]
Chr4:55156460 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1966A>G (p.Asn656Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003640193] Chr4:54277970 [GRCh38]
Chr4:55144137 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1558+20G>C single nucleotide variant Gastrointestinal stromal tumor [RCV003640209] Chr4:54273750 [GRCh38]
Chr4:55139917 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2156+3G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003868221] Chr4:54278518 [GRCh38]
Chr4:55144685 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2674+9C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003640283] Chr4:54287550 [GRCh38]
Chr4:55153717 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.682G>C (p.Gly228Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003640333] Chr4:54264972 [GRCh38]
Chr4:55131139 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2562+19C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638235] Chr4:54285982 [GRCh38]
Chr4:55152149 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.720T>G (p.Asn240Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003640089] Chr4:54265010 [GRCh38]
Chr4:55131177 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2741G>T (p.Arg914Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640091] Chr4:54288865 [GRCh38]
Chr4:55155032 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1019G>T (p.Arg340Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640117] Chr4:54267639 [GRCh38]
Chr4:55133806 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2675-7C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003640154] Chr4:54288792 [GRCh38]
Chr4:55154959 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.49+5_49+6dup duplication Gastrointestinal stromal tumor [RCV003638494] Chr4:54258821..54258822 [GRCh38]
Chr4:55124988..55124989 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1674C>T (p.Arg558=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640275] Chr4:54274861 [GRCh38]
Chr4:55141028 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.850G>A (p.Asp284Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003638462] Chr4:54267379 [GRCh38]
Chr4:55133546 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.764G>C (p.Gly255Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003841643] Chr4:54267293 [GRCh38]
Chr4:55133460 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1122-2del deletion Gastrointestinal stromal tumor [RCV003638983] Chr4:54270628 [GRCh38]
Chr4:55136795 [GRCh37]
Chr4:4q12		 benign
NM_006206.6(PDGFRA):c.2324-2A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003639007] Chr4:54285369 [GRCh38]
Chr4:55151536 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2859G>A (p.Leu953=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639012] Chr4:54289093 [GRCh38]
Chr4:55155260 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2063A>G (p.Lys688Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003639077] Chr4:54278422 [GRCh38]
Chr4:55144589 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-13T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003639199] Chr4:54278349 [GRCh38]
Chr4:55144516 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1474A>G (p.Lys492Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003819830] Chr4:54273646 [GRCh38]
Chr4:55139813 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.878G>T (p.Arg293Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003639544] Chr4:54267407 [GRCh38]
Chr4:55133574 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2825C>T (p.Ser942Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003639482] Chr4:54289059 [GRCh38]
Chr4:55155226 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2139T>C (p.Ala713=) single nucleotide variant Gastrointestinal stromal tumor [RCV003870524] Chr4:54278498 [GRCh38]
Chr4:55144665 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.491G>C (p.Ser164Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003639657] Chr4:54263790 [GRCh38]
Chr4:55129957 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1847_1857del (p.Ser616fs) deletion Gastrointestinal stromal tumor [RCV003639721] Chr4:54277446..54277456 [GRCh38]
Chr4:55143613..55143623 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1995C>G (p.Thr665=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639733] Chr4:54277999 [GRCh38]
Chr4:55144166 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1374T>C (p.Asn458=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639734] Chr4:54273546 [GRCh38]
Chr4:55139713 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3066G>T (p.Leu1022=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639738] Chr4:54290498 [GRCh38]
Chr4:55156665 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1301G>A (p.Arg434Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003639742] Chr4:54272457 [GRCh38]
Chr4:55138624 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.512C>G (p.Ser171Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003639773] Chr4:54263811 [GRCh38]
Chr4:55129978 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.81A>C (p.Leu27Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003639816] Chr4:54261126 [GRCh38]
Chr4:55127293 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1896G>C (p.Thr632=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639825] Chr4:54277900 [GRCh38]
Chr4:55144067 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.911A>C (p.Lys304Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003639851] Chr4:54267440 [GRCh38]
Chr4:55133607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2922T>C (p.His974=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638195] Chr4:54290354 [GRCh38]
Chr4:55156521 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1364+15T>C single nucleotide variant Gastrointestinal stromal tumor [RCV003638210] Chr4:54272535 [GRCh38]
Chr4:55138702 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+16C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638223] Chr4:54285979 [GRCh38]
Chr4:55152146 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2811G>T (p.Pro937=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639903] Chr4:54289045 [GRCh38]
Chr4:55155212 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.54G>T (p.Leu18=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639921] Chr4:54261099 [GRCh38]
Chr4:55127266 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1116A>T (p.Glu372Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003639797] Chr4:54267736 [GRCh38]
Chr4:55133903 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.14A>C (p.His5Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003638335] Chr4:54258782 [GRCh38]
Chr4:55124949 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.495G>A (p.Glu165=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638366] Chr4:54263794 [GRCh38]
Chr4:55129961 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.435T>C (p.Ser145=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640020] Chr4:54263734 [GRCh38]
Chr4:55129901 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2380G>C (p.Asp794His) single nucleotide variant Gastrointestinal stromal tumor [RCV003640023] Chr4:54285427 [GRCh38]
Chr4:55151594 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1473C>G (p.Ala491=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640246] Chr4:54273645 [GRCh38]
Chr4:55139812 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1562T>C (p.Leu521Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003638489] Chr4:54274534 [GRCh38]
Chr4:55140701 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.179C>G (p.Pro60Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003640187] Chr4:54261224 [GRCh38]
Chr4:55127391 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.271T>G (p.Ser91Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003865665] Chr4:54261316 [GRCh38]
Chr4:55127483 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2439+12G>A single nucleotide variant Gastrointestinal stromal tumor [RCV003638503] Chr4:54285498 [GRCh38]
Chr4:55151665 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.932-3C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638541] Chr4:54267549 [GRCh38]
Chr4:55133716 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.229A>G (p.Asn77Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003640234] Chr4:54261274 [GRCh38]
Chr4:55127441 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2003-17_2003-15del deletion Gastrointestinal stromal tumor [RCV003640046] Chr4:54278344..54278346 [GRCh38]
Chr4:55144511..55144513 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.756A>G (p.Glu252=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640071] Chr4:54265046 [GRCh38]
Chr4:55131213 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+20A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003640090] Chr4:54274645 [GRCh38]
Chr4:55140812 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2374T>A (p.Leu792Ile) single nucleotide variant Gastrointestinal stromal tumor [RCV003842835] Chr4:54285421 [GRCh38]
Chr4:55151588 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2950T>C (p.Ser984Pro) single nucleotide variant Gastrointestinal stromal tumor [RCV003640134] Chr4:54290382 [GRCh38]
Chr4:55156549 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2847T>G (p.Ile949Met) single nucleotide variant Gastrointestinal stromal tumor [RCV003640135] Chr4:54289081 [GRCh38]
Chr4:55155248 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1190A>G (p.Gln397Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003638985] Chr4:54270701 [GRCh38]
Chr4:55136868 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.355A>G (p.Ile119Val) single nucleotide variant Gastrointestinal stromal tumor [RCV003640152] Chr4:54261400 [GRCh38]
Chr4:55127567 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1121+17C>A single nucleotide variant Gastrointestinal stromal tumor [RCV003640192] Chr4:54267758 [GRCh38]
Chr4:55133925 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1A>T (p.Met1Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640229] Chr4:54258769 [GRCh38]
Chr4:55124936 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2513G>A (p.Gly838Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003640341] Chr4:54285914 [GRCh38]
Chr4:55152081 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1594C>T (p.Leu532=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640350] Chr4:54274566 [GRCh38]
Chr4:55140733 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2323+19A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003861129] Chr4:54280501 [GRCh38]
Chr4:55146668 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.256G>A (p.Glu86Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003823847] Chr4:54261301 [GRCh38]
Chr4:55127468 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.759+14A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003639148] Chr4:54265063 [GRCh38]
Chr4:55131230 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.336T>C (p.Leu112=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639273] Chr4:54261381 [GRCh38]
Chr4:55127548 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2562+20A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003639420] Chr4:54285983 [GRCh38]
Chr4:55152150 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1891+8C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639448] Chr4:54277500 [GRCh38]
Chr4:55143667 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1559-14C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639370] Chr4:54274517 [GRCh38]
Chr4:55140684 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.888C>T (p.Thr296=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639512] Chr4:54267417 [GRCh38]
Chr4:55133584 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2850G>A (p.Val950=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639103] Chr4:54289084 [GRCh38]
Chr4:55155251 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.628+13del deletion Gastrointestinal stromal tumor [RCV003639501] Chr4:54263940 [GRCh38]
Chr4:55130107 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2352T>C (p.Asp784=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639618] Chr4:54285399 [GRCh38]
Chr4:55151566 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1664A>T (p.Tyr555Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003639315] Chr4:54274851 [GRCh38]
Chr4:55141018 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.826A>G (p.Thr276Ala) single nucleotide variant Gastrointestinal stromal tumor [RCV003639498] Chr4:54267355 [GRCh38]
Chr4:55133522 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3242C>G (p.Ser1081Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003639553] Chr4:54295244 [GRCh38]
Chr4:55161411 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2892A>C (p.Lys964Asn) single nucleotide variant Gastrointestinal stromal tumor [RCV003639393] Chr4:54290324 [GRCh38]
Chr4:55156491 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1987G>A (p.Ala663Thr) single nucleotide variant Gastrointestinal stromal tumor [RCV003639590] Chr4:54277991 [GRCh38]
Chr4:55144158 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3181_3182del (p.Lys1061fs) deletion Gastrointestinal stromal tumor [RCV003639603] Chr4:54295183..54295184 [GRCh38]
Chr4:55161350..55161351 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.200C>G (p.Ser67Cys) single nucleotide variant Gastrointestinal stromal tumor [RCV003639672] Chr4:54261245 [GRCh38]
Chr4:55127412 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2604T>C (p.Phe868=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639697] Chr4:54287471 [GRCh38]
Chr4:55153638 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1058A>G (p.Asn353Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003639779] Chr4:54267678 [GRCh38]
Chr4:55133845 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1238-17C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639850] Chr4:54272377 [GRCh38]
Chr4:55138544 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.370C>T (p.Pro124Ser) single nucleotide variant Gastrointestinal stromal tumor [RCV003639899] Chr4:54263669 [GRCh38]
Chr4:55129836 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2540C>G (p.Ser847Trp) single nucleotide variant Gastrointestinal stromal tumor [RCV003639912] Chr4:54285941 [GRCh38]
Chr4:55152108 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.736C>T (p.Gln246Ter) single nucleotide variant Gastrointestinal stromal tumor [RCV003638150] Chr4:54265026 [GRCh38]
Chr4:55131193 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.931+2T>A single nucleotide variant Gastrointestinal stromal tumor [RCV003639715] Chr4:54267462 [GRCh38]
Chr4:55133629 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2789T>G (p.Val930Gly) single nucleotide variant Gastrointestinal stromal tumor [RCV003639690] Chr4:54289023 [GRCh38]
Chr4:55155190 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.496G>A (p.Gly166Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003639752] Chr4:54263795 [GRCh38]
Chr4:55129962 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2671C>T (p.Leu891Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003639762] Chr4:54287538 [GRCh38]
Chr4:55153705 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2881-15A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003639809] Chr4:54290298 [GRCh38]
Chr4:55156465 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3252G>A (p.Val1084=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638182] Chr4:54295254 [GRCh38]
Chr4:55161421 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2674+11G>T single nucleotide variant Gastrointestinal stromal tumor [RCV003639890] Chr4:54287552 [GRCh38]
Chr4:55153719 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-2A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003638206] Chr4:54270631 [GRCh38]
Chr4:55136798 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2324-18T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003639861] Chr4:54285353 [GRCh38]
Chr4:55151520 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2439+14A>G single nucleotide variant Gastrointestinal stromal tumor [RCV003638219] Chr4:54285500 [GRCh38]
Chr4:55151667 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3028C>G (p.Gln1010Glu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640060] Chr4:54290460 [GRCh38]
Chr4:55156627 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1297G>T (p.Val433Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003640111] Chr4:54272453 [GRCh38]
Chr4:55138620 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2847T>A (p.Ile949=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639620] Chr4:54289081 [GRCh38]
Chr4:55155248 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2281C>T (p.Leu761Phe) single nucleotide variant Gastrointestinal stromal tumor [RCV003638258] Chr4:54280440 [GRCh38]
Chr4:55146607 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2664C>T (p.Ile888=) single nucleotide variant Gastrointestinal stromal tumor [RCV003639995] Chr4:54287531 [GRCh38]
Chr4:55153698 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2155dup (p.Ser719fs) duplication Gastrointestinal stromal tumor [RCV003639951] Chr4:54278513..54278514 [GRCh38]
Chr4:55144680..55144681 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1961A>T (p.His654Leu) single nucleotide variant Gastrointestinal stromal tumor [RCV003639732] Chr4:54277965 [GRCh38]
Chr4:55144132 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.198C>A (p.Ser66Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003639666] Chr4:54261243 [GRCh38]
Chr4:55127410 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2969G>A (p.Gly990Asp) single nucleotide variant Gastrointestinal stromal tumor [RCV003639753] Chr4:54290401 [GRCh38]
Chr4:55156568 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1653+20A>C single nucleotide variant Gastrointestinal stromal tumor [RCV003639831] Chr4:54274645 [GRCh38]
Chr4:55140812 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1122-11T>G single nucleotide variant Gastrointestinal stromal tumor [RCV003861646] Chr4:54270622 [GRCh38]
Chr4:55136789 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-12C>T single nucleotide variant Gastrointestinal stromal tumor [RCV003638350] Chr4:54287418 [GRCh38]
Chr4:55153585 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2004C>T (p.Gly668=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638382] Chr4:54278363 [GRCh38]
Chr4:55144530 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.801A>C (p.Pro267=) single nucleotide variant Gastrointestinal stromal tumor [RCV003638248] Chr4:54267330 [GRCh38]
Chr4:55133497 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.771C>T (p.Gly257=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640033] Chr4:54267300 [GRCh38]
Chr4:55133467 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.316C>A (p.Gln106Lys) single nucleotide variant Gastrointestinal stromal tumor [RCV003640051] Chr4:54261361 [GRCh38]
Chr4:55127528 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.456A>G (p.Thr152=) single nucleotide variant Gastrointestinal stromal tumor [RCV003640110] Chr4:54263755 [GRCh38]
Chr4:55129922 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.3097G>C (p.Asp1033His) single nucleotide variant Gastrointestinal stromal tumor [RCV003638405] Chr4:54290529 [GRCh38]
Chr4:55156696 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2323+1177del deletion PDGFRA-related condition [RCV003959847] Chr4:54281658 [GRCh38]
Chr4:55147825 [GRCh37]
Chr4:4q12		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_006206.6(PDGFRA):c.-13+10673A>G single nucleotide variant PDGFRA-related condition [RCV003894599] Chr4:54240088 [GRCh38]
Chr4:55106255 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.2563-7C>T single nucleotide variant PDGFRA-related condition [RCV003982642] Chr4:54287423 [GRCh38]
Chr4:55153590 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.-13+10679C>T single nucleotide variant PDGFRA-related condition [RCV003899562] Chr4:54240094 [GRCh38]
Chr4:55106261 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.1615A>T (p.Ile539Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379027] Chr4:54274587 [GRCh38]
Chr4:55140754 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1397C>T (p.Ala466Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339280] Chr4:54273569 [GRCh38]
Chr4:55139736 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3183G>A (p.Lys1061=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339273] Chr4:54295185 [GRCh38]
Chr4:55161352 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.886A>G (p.Thr296Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339276] Chr4:54267415 [GRCh38]
Chr4:55133582 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.1917A>G (p.Gln639=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339275] Chr4:54277921 [GRCh38]
Chr4:55144088 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.239T>G (p.Leu80Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339286] Chr4:54261284 [GRCh38]
Chr4:55127451 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.3030G>A (p.Gln1010=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339274] Chr4:54290462 [GRCh38]
Chr4:55156629 [GRCh37]
Chr4:4q12		 likely benign
NM_006206.6(PDGFRA):c.145T>C (p.Cys49Arg) single nucleotide variant Gastrointestinal stromal tumor [RCV003638940]|Hereditary cancer-predisposing syndrome [RCV003339277] Chr4:54261190 [GRCh38]
Chr4:55127357 [GRCh37]
Chr4:4q12		 uncertain significance
NM_006206.6(PDGFRA):c.2567T>G (p.Phe856Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339283] Chr4:54287434 [GRCh38]
Chr4:55153601 [GRCh37]
Chr4:4q12		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR140hsa-miR-140-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22012839
MIR34Ahsa-miR-34a-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//Microarray/Functional MTI22479456
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA22750848
MIR34Ahsa-miR-34a-5pOncomiRDBexternal_infoNANA22479456

Predicted Target Of
Summary Value
Count of predictions:3065
Count of miRNA genes:1212
Interacting mature miRNAs:1535
Transcripts:ENST00000257290, ENST00000461294, ENST00000503856, ENST00000504461, ENST00000507536, ENST00000508170, ENST00000509092, ENST00000509490, ENST00000512143, ENST00000512522
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
G34454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,145,206 - 55,145,439UniSTSGRCh37
Build 36454,839,963 - 54,840,196RGDNCBI36
Celera452,645,957 - 52,646,190RGD
Cytogenetic Map4q12UniSTS
HuRef451,093,337 - 51,093,570UniSTS
D4S1394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,145,220 - 55,145,369UniSTSGRCh37
Build 36454,839,977 - 54,840,126RGDNCBI36
Celera452,645,971 - 52,646,120RGD
Cytogenetic Map4q12UniSTS
HuRef451,093,351 - 51,093,500UniSTS
TNG Radiation Hybrid Map429582.0UniSTS
SHGC-8069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,164,170 - 55,164,349UniSTSGRCh37
Build 36454,858,927 - 54,859,106RGDNCBI36
Celera452,664,928 - 52,665,107RGD
Cytogenetic Map4q12UniSTS
HuRef451,112,313 - 51,112,492UniSTS
TNG Radiation Hybrid Map429617.0UniSTS
G43580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,161,620 - 55,161,910UniSTSGRCh37
Build 36454,856,377 - 54,856,667RGDNCBI36
Celera452,662,381 - 52,662,671RGD
Cytogenetic Map4q12UniSTS
HuRef451,109,766 - 51,110,056UniSTS
SHGC-85185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,129,922 - 55,130,245UniSTSGRCh37
Build 36454,824,679 - 54,825,002RGDNCBI36
Celera452,630,677 - 52,631,000RGD
Cytogenetic Map4q12UniSTS
HuRef451,077,981 - 51,078,304UniSTS
TNG Radiation Hybrid Map429594.0UniSTS
GDB:626070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,154,967 - 55,155,065UniSTSGRCh37
Build 36454,849,724 - 54,849,822RGDNCBI36
Celera452,655,726 - 52,655,824RGD
Cytogenetic Map4q12UniSTS
HuRef451,103,104 - 51,103,202UniSTS
RH68733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,148,122 - 55,148,249UniSTSGRCh37
Build 36454,842,879 - 54,843,006RGDNCBI36
Celera452,648,887 - 52,649,014RGD
Cytogenetic Map4q12UniSTS
HuRef451,096,267 - 51,096,394UniSTS
GeneMap99-GB4 RH Map4313.63UniSTS
NCBI RH Map4620.0UniSTS
PDGFRA__1207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37455,163,611 - 55,164,432UniSTSGRCh37
Build 36454,858,368 - 54,859,189RGDNCBI36
Celera452,664,369 - 52,665,190RGD
HuRef451,111,754 - 51,112,575UniSTS
GDB:626067  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q12UniSTS


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
High 1 1
Medium 2220 1790 920 195 446 68 3062 1088 1632 119 1012 1238 128 1199 1945 2
Low 105 459 740 391 149 356 1213 1075 2060 185 352 174 37 1 5 843
Below cutoff 22 731 43 22 913 24 76 25 28 71 46 110 6 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA599881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA625689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ278993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV689272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU737962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS566148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA678599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN174599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC040719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC424354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ667218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257290   ⟹   ENSP00000257290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,293 - 54,298,245 (+)Ensembl
RefSeq Acc Id: ENST00000461294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,276,751 - 54,278,246 (+)Ensembl
RefSeq Acc Id: ENST00000503856   ⟹   ENSP00000425902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,843 - 54,263,776 (+)Ensembl
RefSeq Acc Id: ENST00000504461   ⟹   ENSP00000426472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,230,322 - 54,263,773 (+)Ensembl
RefSeq Acc Id: ENST00000507536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,277,176 - 54,281,977 (+)Ensembl
RefSeq Acc Id: ENST00000508170   ⟹   ENSP00000425648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,280 - 54,265,353 (+)Ensembl
RefSeq Acc Id: ENST00000509092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,292 - 54,280,758 (+)Ensembl
RefSeq Acc Id: ENST00000509490   ⟹   ENSP00000424218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,311 - 54,281,978 (+)Ensembl
RefSeq Acc Id: ENST00000512143   ⟹   ENSP00000425626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,229,293 - 54,261,412 (+)Ensembl
RefSeq Acc Id: ENST00000512522   ⟹   ENSP00000425232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl454,243,575 - 54,263,762 (+)Ensembl
RefSeq Acc Id: NM_001347827   ⟹   NP_001334756
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,293 - 54,281,978 (+)NCBI
T2T-CHM13v2.0457,718,046 - 57,770,730 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347828   ⟹   NP_001334757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,293 - 54,298,245 (+)NCBI
T2T-CHM13v2.0457,718,046 - 57,786,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347829   ⟹   NP_001334758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,233,100 - 54,298,245 (+)NCBI
T2T-CHM13v2.0457,721,853 - 57,786,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347830   ⟹   NP_001334759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,233,960 - 54,298,245 (+)NCBI
T2T-CHM13v2.0457,722,713 - 57,786,996 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006206   ⟹   NP_006197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,293 - 54,298,245 (+)NCBI
GRCh37455,095,264 - 55,164,412 (+)ENTREZGENE
Build 36454,790,204 - 54,859,169 (+)NCBI Archive
HuRef451,043,324 - 51,112,555 (+)ENTREZGENE
CHM1_1455,130,846 - 55,199,987 (+)NCBI
T2T-CHM13v2.0457,718,046 - 57,786,996 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265743   ⟹   XP_005265800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,867 - 54,298,245 (+)NCBI
GRCh37455,095,264 - 55,164,412 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714041   ⟹   XP_006714104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,293 - 54,281,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008281   ⟹   XP_016863770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,233,960 - 54,281,978 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415766   ⟹   XP_047271722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,231,969 - 54,298,245 (+)NCBI
RefSeq Acc Id: XM_047415767   ⟹   XP_047271723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,867 - 54,298,245 (+)NCBI
RefSeq Acc Id: XM_054350159   ⟹   XP_054206134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0457,720,839 - 57,786,996 (+)NCBI
RefSeq Acc Id: XM_054350160   ⟹   XP_054206135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0457,718,046 - 57,770,730 (+)NCBI
RefSeq Acc Id: XM_054350161   ⟹   XP_054206136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0457,722,713 - 57,770,730 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001334756 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334757 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334758 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334759 (Get FASTA)   NCBI Sequence Viewer  
  NP_006197 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265800 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863770 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271722 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054206136 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60048 (Get FASTA)   NCBI Sequence Viewer  
  AAA96715 (Get FASTA)   NCBI Sequence Viewer  
  AAH15186 (Get FASTA)   NCBI Sequence Viewer  
  AAH63414 (Get FASTA)   NCBI Sequence Viewer  
  BAA08742 (Get FASTA)   NCBI Sequence Viewer  
  BAG38166 (Get FASTA)   NCBI Sequence Viewer  
  BBG56397 (Get FASTA)   NCBI Sequence Viewer  
  BBG56398 (Get FASTA)   NCBI Sequence Viewer  
  BBG56399 (Get FASTA)   NCBI Sequence Viewer  
  BBG56400 (Get FASTA)   NCBI Sequence Viewer  
  BBG56401 (Get FASTA)   NCBI Sequence Viewer  
  CAJ33669 (Get FASTA)   NCBI Sequence Viewer  
  CAJ33686 (Get FASTA)   NCBI Sequence Viewer  
  CAN37625 (Get FASTA)   NCBI Sequence Viewer  
  CBH30545 (Get FASTA)   NCBI Sequence Viewer  
  EAX05457 (Get FASTA)   NCBI Sequence Viewer  
  EAX05458 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000257290
  ENSP00000257290.5
  ENSP00000424218
  ENSP00000424218.1
  ENSP00000425232.1
  ENSP00000425626.1
  ENSP00000425648.1
  ENSP00000425902.1
  ENSP00000426472.1
GenBank Protein P16234 (Get FASTA)   NCBI Sequence Viewer  
  QZG25693 (Get FASTA)   NCBI Sequence Viewer  
  QZG25694 (Get FASTA)   NCBI Sequence Viewer  
  QZG25695 (Get FASTA)   NCBI Sequence Viewer  
  QZG25696 (Get FASTA)   NCBI Sequence Viewer  
  QZG25697 (Get FASTA)   NCBI Sequence Viewer  
  QZG25698 (Get FASTA)   NCBI Sequence Viewer  
  QZG25699 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_006197   ⟸   NM_006206
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265800   ⟸   XM_005265743
- Peptide Label: isoform X1
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006714104   ⟸   XM_006714041
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863770   ⟸   XM_017008281
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001334757   ⟸   NM_001347828
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001334756   ⟸   NM_001347827
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: NP_001334758   ⟸   NM_001347829
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334759   ⟸   NM_001347830
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000425902   ⟸   ENST00000503856
RefSeq Acc Id: ENSP00000426472   ⟸   ENST00000504461
RefSeq Acc Id: ENSP00000257290   ⟸   ENST00000257290
RefSeq Acc Id: ENSP00000425648   ⟸   ENST00000508170
RefSeq Acc Id: ENSP00000424218   ⟸   ENST00000509490
RefSeq Acc Id: ENSP00000425232   ⟸   ENST00000512522
RefSeq Acc Id: ENSP00000425626   ⟸   ENST00000512143
RefSeq Acc Id: XP_047271723   ⟸   XM_047415767
- Peptide Label: isoform X1
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047271722   ⟸   XM_047415766
- Peptide Label: isoform X1
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206135   ⟸   XM_054350160
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054206134   ⟸   XM_054350159
- Peptide Label: isoform X1
- UniProtKB: Q96KZ7 (UniProtKB/Swiss-Prot),   Q6P4H5 (UniProtKB/Swiss-Prot),   P16234 (UniProtKB/Swiss-Prot),   E9PBH0 (UniProtKB/Swiss-Prot),   B2RE69 (UniProtKB/Swiss-Prot),   Q9UD28 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054206136   ⟸   XM_054350161
- Peptide Label: isoform X3
Protein Domains
Ig-like   Ig-like C2-type   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16234-F1-model_v2 AlphaFold P16234 1-1089 view protein structure

Promoters
RGD ID:6867444
Promoter ID:EPDNEW_H6887
Type:initiation region
Name:PDGFRA_1
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,293 - 54,229,353EPDNEW
RGD ID:6867446
Promoter ID:EPDNEW_H6888
Type:initiation region
Name:PDGFRA_7
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,229,867 - 54,229,927EPDNEW
RGD ID:6867448
Promoter ID:EPDNEW_H6889
Type:multiple initiation site
Name:PDGFRA_5
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,230,495 - 54,230,555EPDNEW
RGD ID:6867450
Promoter ID:EPDNEW_H6890
Type:initiation region
Name:PDGFRA_3
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,233,100 - 54,233,160EPDNEW
RGD ID:6867452
Promoter ID:EPDNEW_H6891
Type:initiation region
Name:PDGFRA_14
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,233,409 - 54,233,469EPDNEW
RGD ID:6867454
Promoter ID:EPDNEW_H6892
Type:initiation region
Name:PDGFRA_2
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,234,437 - 54,234,497EPDNEW
RGD ID:6867456
Promoter ID:EPDNEW_H6893
Type:initiation region
Name:PDGFRA_12
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,258,833 - 54,258,893EPDNEW
RGD ID:6867458
Promoter ID:EPDNEW_H6894
Type:multiple initiation site
Name:PDGFRA_10
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,261,097 - 54,261,157EPDNEW
RGD ID:6867460
Promoter ID:EPDNEW_H6895
Type:initiation region
Name:PDGFRA_11
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,264,976 - 54,265,036EPDNEW
RGD ID:6867462
Promoter ID:EPDNEW_H6896
Type:initiation region
Name:PDGFRA_6
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,267,636 - 54,267,696EPDNEW
RGD ID:6867464
Promoter ID:EPDNEW_H6897
Type:initiation region
Name:PDGFRA_9
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6898  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,272,453 - 54,272,513EPDNEW
RGD ID:6867466
Promoter ID:EPDNEW_H6898
Type:initiation region
Name:PDGFRA_8
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6899  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,273,695 - 54,273,755EPDNEW
RGD ID:6867468
Promoter ID:EPDNEW_H6899
Type:initiation region
Name:PDGFRA_13
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6900  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,288,802 - 54,288,862EPDNEW
RGD ID:6867470
Promoter ID:EPDNEW_H6900
Type:initiation region
Name:PDGFRA_4
Description:platelet derived growth factor receptor alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6887  EPDNEW_H6888  EPDNEW_H6889  EPDNEW_H6890  EPDNEW_H6891  EPDNEW_H6892  EPDNEW_H6893  EPDNEW_H6894  EPDNEW_H6895  EPDNEW_H6896  EPDNEW_H6897  EPDNEW_H6898  EPDNEW_H6899  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38454,288,986 - 54,289,046EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8803 AgrOrtholog
COSMIC PDGFRA COSMIC
Ensembl Genes ENSG00000134853 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257290 ENTREZGENE
  ENST00000257290.10 UniProtKB/Swiss-Prot
  ENST00000503856.5 UniProtKB/TrEMBL
  ENST00000504461.5 UniProtKB/TrEMBL
  ENST00000508170.5 UniProtKB/Swiss-Prot
  ENST00000509490 ENTREZGENE
  ENST00000509490.5 UniProtKB/Swiss-Prot
  ENST00000512143.1 UniProtKB/TrEMBL
  ENST00000512522.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000134853 GTEx
HGNC ID HGNC:8803 ENTREZGENE
Human Proteome Map PDGFRA Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot
  Immunoglobulin UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  PDGFRA UniProtKB/Swiss-Prot
  PDGFRL UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_rcpt_3_CS UniProtKB/Swiss-Prot
KEGG Report hsa:5156 UniProtKB/Swiss-Prot
NCBI Gene 5156 ENTREZGENE
OMIM 173490 OMIM
PANTHER PLATELET-DERIVED GROWTH FACTOR RECEPTOR ALPHA UniProtKB/Swiss-Prot
  PLATELET-DERIVED GROWTH FACTOR RECEPTOR LIKE UniProtKB/TrEMBL
  PROTEIN KINASE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot
Pfam I-set UniProtKB/Swiss-Prot
  PF00047 UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot
PharmGKB PA33147 PharmGKB, RGD
PIRSF Alpha-PDGF_receptor UniProtKB/Swiss-Prot
  TyrPK_CSF1-R UniProtKB/Swiss-Prot
PRINTS VEGFRECEPTOR UniProtKB/Swiss-Prot
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  RECEPTOR_TYR_KIN_III UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  S_TKc UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot
UniProt A0A387LBM6_HUMAN UniProtKB/TrEMBL
  B2RE69 ENTREZGENE
  D6RDX0_HUMAN UniProtKB/TrEMBL
  D6RG11_HUMAN UniProtKB/TrEMBL
  D6RIG5_HUMAN UniProtKB/TrEMBL
  D6RJH0_HUMAN UniProtKB/TrEMBL
  E9PBH0 ENTREZGENE
  P16234 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6P4H5 ENTREZGENE
  Q96KZ7 ENTREZGENE
  Q9UD28 ENTREZGENE
UniProt Secondary B2RE69 UniProtKB/Swiss-Prot
  E9PBH0 UniProtKB/Swiss-Prot
  Q6P4H5 UniProtKB/Swiss-Prot
  Q96KZ7 UniProtKB/Swiss-Prot
  Q9UD28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PDGFRA  platelet derived growth factor receptor alpha    platelet-derived growth factor receptor, alpha polypeptide  Symbol and/or name change 5135510 APPROVED