CSF1R (colony stimulating factor 1 receptor) - Rat Genome Database

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Pathways
Gene: CSF1R (colony stimulating factor 1 receptor) Homo sapiens
Analyze
Symbol: CSF1R
Name: colony stimulating factor 1 receptor
RGD ID: 737004
HGNC Page HGNC:2433
Description: Enables cytokine binding activity and macrophage colony-stimulating factor receptor activity. Involved in several processes, including cell-cell junction maintenance; cellular response to cytokine stimulus; and positive regulation of macromolecule metabolic process. Located in nucleoplasm and plasma membrane. Implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; diabetes mellitus; gastrointestinal system cancer (multiple); lung cancer (multiple); and renal cell carcinoma. Biomarker of several diseases, including carcinoma (multiple); cervix uteri carcinoma in situ; liver cirrhosis; lung cancer (multiple); and prostate carcinoma in situ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BANDDOS; C-FMS; CD115; CD115 antigen; CSF-1 receptor; CSF-1-R; CSF-1R; CSFR; FIM2; FMS; FMS proto-oncogene; GPSC; HDLS; HDLS1; M-CSF-R; macrophage colony stimulating factor I receptor; macrophage colony-stimulating factor 1 receptor; McDonough feline sarcoma viral (v-fms) oncogene homolog; proto-oncogene c-Fms
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
GRCh385150,053,295 - 150,113,365 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,053,291 - 150,113,372 (-)EnsemblGRCh38hg38GRCh38
GRCh375149,432,858 - 149,492,928 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,413,051 - 149,473,128 (-)NCBINCBI36Build 36hg18NCBI36
Build 345149,413,050 - 149,473,128NCBI
Celera5145,514,237 - 145,574,309 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5144,580,804 - 144,640,914 (-)NCBIHuRef
CHM1_15148,865,545 - 148,925,516 (-)NCBICHM1_1
T2T-CHM13v2.05150,589,842 - 150,649,957 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
acute myeloid leukemia  (EXP)
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  (EXP,IAGP)
Alzheimer's disease  (IAGP)
anti-basement membrane glomerulonephritis  (ISO)
bone development disease  (ISO)
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  (IAGP)
Brain Hypoxia-Ischemia  (ISO)
breast cancer  (IEP,ISO)
Breast Neoplasms  (EXP)
Carcinoma, Lewis Lung  (ISO)
Carotid Artery Injuries  (ISO)
cervical squamous cell carcinoma  (IEP)
cervix uteri carcinoma in situ  (IEP)
colon adenocarcinoma  (IMP,ISO)
colorectal cancer  (HEP)
colorectal carcinoma  (IEP)
crescentic glomerulonephritis  (ISO)
diabetes mellitus  (IDA)
Diabetic Nephropathies  (ISO)
disease of cellular proliferation  (EXP,IAGP)
esophagus squamous cell carcinoma  (HEP)
Experimental Arthritis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
familial adenomatous polyposis  (ISO)
familial adenomatous polyposis 1  (IAGP)
Foreign-Body Reaction  (ISO)
frontotemporal dementia  (IAGP)
gastrointestinal stromal tumor  (IGI)
genetic disease  (IAGP)
Hematologic Neoplasms  (IAGP)
hepatocellular carcinoma  (HEP,IDA,IEP)
Hereditary Neoplastic Syndromes  (IAGP)
infertility  (ISO)
Kidney Reperfusion Injury  (ISO)
Leukoencephalopathies  (EXP)
liver cirrhosis  (IEP)
lung adenocarcinoma  (IEP)
lung cancer  (IAGP,IEP)
lung non-small cell carcinoma  (IAGP,IEP,IMP)
lung small cell carcinoma  (IEP)
lung squamous cell carcinoma  (IEP)
Lymphatic Metastasis  (IEP)
lymphopenia  (ISO)
malignant pleural mesothelioma  (HEP)
myeloid neoplasm  (IAGP)
nasopharynx carcinoma  (IDA)
Neoplasm Metastasis  (EXP,IEP,ISO)
Neurodevelopmental Disorders  (IAGP)
Optic Nerve Injuries  (ISO)
Parkinsonism  (IAGP)
prostate carcinoma in situ  (IEP)
Prostatic Neoplasms  (IEP)
renal cell carcinoma  (IEP,IMP,ISO)
stomach cancer  (IEP)
Transplant Rejection  (ISO)
ureteral obstruction  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-tert-butylhydroquinone  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
benzene  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (EXP)
buspirone  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
D-gluconic acid  (ISO)
deoxycholic acid  (ISO)
dexamethasone  (EXP,ISO)
dichlorine  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dimethyl fumarate  (ISO)
dimethyl sulfoxide  (EXP)
doxorubicin  (EXP)
Echimidine  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
gamma-tocopherol  (ISO)
genistein  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
Heliotrine  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indoles  (ISO)
isotretinoin  (EXP)
KN-93  (ISO)
Lasiocarpine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
methamphetamine  (ISO)
methotrexate  (EXP)
N-(6-acetamidohexyl)acetamide  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodimethylamine  (ISO)
naringin  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitric oxide  (EXP)
Octicizer  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pexidartinib  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pluronic P-123  (ISO)
Poloxamer  (ISO)
ponatinib  (EXP)
pravastatin  (ISO)
propanal  (EXP)
propiconazole  (ISO)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
SB 203580  (ISO)
senecionine  (ISO)
Senkirkine  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
Soman  (ISO)
starch  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tocopherol  (ISO)
tributyl phosphate  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
tris(2-chloroethyl) phosphate  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
axon guidance  (IEA)
cardiac muscle cell proliferation  (ISO)
cell population proliferation  (IMP,TAS)
cell-cell junction maintenance  (IMP)
cellular response to cytokine stimulus  (IEA,ISS)
cellular response to macrophage colony-stimulating factor stimulus  (IEA,IMP,ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cellular response to tumor necrosis factor  (ISO)
cytokine-mediated signaling pathway  (IEA,IMP)
dentate gyrus development  (ISO)
forebrain neuron differentiation  (IEA)
hemopoiesis  (IMP)
immune system process  (IEA)
inflammatory response  (IEA,TAS)
innate immune response  (IEA)
macrophage colony-stimulating factor signaling pathway  (IEA,ISS)
macrophage differentiation  (TAS)
mammary gland duct morphogenesis  (TAS)
microglia development  (ISO)
microglial cell activation  (ISO)
microglial cell proliferation  (IEA,ISO)
monocyte differentiation  (TAS)
monocyte homeostasis  (ISO)
mononuclear cell differentiation  (ISO)
myoblast proliferation  (ISO)
negative regulation of apoptotic process  (IEA)
negative regulation of cell population proliferation  (IEA)
negative regulation of cellular process  (ISO)
negative regulation of epithelial cell differentiation  (ISO)
negative regulation of myotube differentiation  (ISO)
negative regulation of platelet formation  (ISO)
neuron projection extension  (ISO)
neutrophil homeostasis  (ISO)
olfactory bulb development  (IEA)
osteoclast differentiation  (IBA,IEA,ISO,ISS)
phosphorylation  (IEA)
positive regulation by host of viral process  (IEA)
positive regulation of astrocyte activation  (ISO)
positive regulation of bone mineralization  (ISO)
positive regulation of cell cycle G1/S phase transition  (ISO)
positive regulation of cell migration  (IBA)
positive regulation of cell motility  (IMP)
positive regulation of cell population proliferation  (IEA,IMP)
positive regulation of chemokine production  (IMP)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISS)
positive regulation of gene expression  (ISO)
positive regulation of leukocyte proliferation  (ISO)
positive regulation of lymphocyte proliferation  (ISO)
positive regulation of macromolecule metabolic process  (IEA)
positive regulation of macrophage chemotaxis  (IGI)
positive regulation of macrophage migration  (ISO)
positive regulation of macrophage proliferation  (IGI,ISO)
positive regulation of myoblast proliferation  (ISO)
positive regulation of osteoclast differentiation  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS)
positive regulation of protein phosphorylation  (IMP)
positive regulation of tumor necrosis factor production  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IEA,ISS)
regulation of actin cytoskeleton organization  (IEA,ISS)
regulation of bone resorption  (ISS)
regulation of cell shape  (IEA,IMP)
regulation of macrophage migration  (IEA,ISS)
regulation of MAPK cascade  (IBA)
regulation of mononuclear cell proliferation  (ISO)
regulation of primary metabolic process  (IEA)
response to axon injury  (ISO)
response to hypoxia  (ISO)
response to ischemia  (IEA,ISS)
response to lipopolysaccharide  (ISO)
response to mechanical stimulus  (ISO)
response to organic cyclic compound  (ISO)
response to organonitrogen compound  (ISO)
ruffle organization  (IEA,ISS)
signal transduction  (IEA,TAS)
skeletal muscle cell proliferation  (ISO)
skeletal muscle tissue development  (ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA,IEA,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Adult onset  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alzheimer disease  (IAGP)
Apraxia  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Auditory hallucinations  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bell-shaped thorax  (IAGP)
Bradykinesia  (IAGP)
Bulbous nose  (IAGP)
Central nervous system axonal spheroid  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral calcification  (IAGP)
Chiari type I malformation  (IAGP)
Childhood onset  (IAGP)
CNS demyelination  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Corpus callosum atrophy  (IAGP)
Craniofacial osteosclerosis  (IAGP)
Dandy-Walker malformation  (IAGP)
Delusions  (IAGP)
Depression  (IAGP)
Diaphyseal sclerosis  (IAGP)
Difficulty walking  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Erlenmeyer flask deformity of the femurs  (IAGP)
Focal-onset seizure  (IAGP)
Frontal lobe dementia  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hematological neoplasm  (IAGP)
Hydrocephalus  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypocalcemia  (IAGP)
Impaired executive functioning  (IAGP)
Inappropriate laughter  (IAGP)
Increased skull ossification  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Late young adult onset  (IAGP)
Leukoencephalopathy  (IAGP)
Long eyelashes  (IAGP)
Lung adenocarcinoma  (IAGP)
Macrocephaly  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Metaphyseal widening  (IAGP)
Middle age onset  (IAGP)
Mutism  (IAGP)
Myeloproliferative disorder  (IAGP)
Neoplasm  (IAGP)
Neurodegeneration  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteopetrosis  (IAGP)
Parkinsonism  (IAGP)
Pectus carinatum  (IAGP)
Periventricular heterotopia  (IAGP)
Platyspondyly  (IAGP)
Poor speech  (IAGP)
Postural instability  (IAGP)
Progressive  (IAGP)
Rapidly progressive  (IAGP)
Rigidity  (IAGP)
Sclerotic vertebral body  (IAGP)
Seizure  (IAGP)
Shuffling gait  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Tented upper lip vermilion  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. High co-expression of IL-34 and M-CSF correlates with tumor progression and poor survival in lung cancers. Baghdadi M, etal., Sci Rep. 2018 Jan 11;8(1):418. doi: 10.1038/s41598-017-18796-8.
2. Autocrine CSF-1R signaling drives mesothelioma chemoresistance via AKT activation. Cioce M, etal., Cell Death Dis. 2014 Apr 10;5:e1167. doi: 10.1038/cddis.2014.136.
3. Effects of the cFMS kinase inhibitor 5-(3-methoxy-4-((4-methoxybenzyl)oxy)benzyl)pyrimidine-2,4-diamine (GW2580) in normal and arthritic rats. Conway JG, etal., J Pharmacol Exp Ther. 2008 Jul;326(1):41-50. doi: 10.1124/jpet.107.129429. Epub 2008 Apr 23.
4. CSF1R methylation is a key regulatory mechanism of tumor-associated macrophages in hepatocellular carcinoma. Cui B, etal., Oncol Lett. 2020 Aug;20(2):1835-1845. doi: 10.3892/ol.2020.11726. Epub 2020 Jun 11.
5. [Methylation status of c-fms oncogene in hepatocellular carcinoma and its relation with clinical pathology]. Cui J and Yang D, Zhonghua Gan Zang Bing Za Zhi. 2001 Jun;9(3):137-8.
6. The potential mechanism of INHBC and CSF1R in diabetic nephropathy. Du XY, etal., Eur Rev Med Pharmacol Sci. 2020 Feb;24(4):1970-1978. doi: 10.26355/eurrev_202002_20374.
7. qPCR in gastrointestinal stromal tumors: Evaluation of reference genes and expression analysis of KIT and the alternative receptor tyrosine kinases FLT3, CSF1-R, PDGFRB, MET and AXL. Fassunke J, etal., BMC Mol Biol. 2010 Dec 20;11:100. doi: 10.1186/1471-2199-11-100.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Is CSF1R Expression Localization Crucial for its Prognostic Value in Colorectal Cancer? Guan H, etal., Appl Immunohistochem Mol Morphol. 2021 Jan;29(1):68-75. doi: 10.1097/PAI.0000000000000844.
10. Up-regulation of VEGF, c-fms and COX-2 expression correlates with severity of cervical cancer precursor (CIN) lesions and invasive disease. Hammes LS, etal., Gynecol Oncol. 2008 Jun 18.
11. Role of macrophages in the fibrotic phase of rat crescentic glomerulonephritis. Han Y, etal., Am J Physiol Renal Physiol. 2013 Apr 15;304(8):F1043-53. doi: 10.1152/ajprenal.00389.2012. Epub 2013 Feb 13.
12. c-fms blockade reverses glomerular macrophage infiltration and halts development of crescentic anti-GBM glomerulonephritis in the rat. Han Y, etal., Lab Invest. 2011 Jul;91(7):978-91. doi: 10.1038/labinvest.2011.61. Epub 2011 Apr 25.
13. Rapid activation of tumor-associated macrophages boosts preexisting tumor immunity. Hoves S, etal., J Exp Med. 2018 Mar 5;215(3):859-876. doi: 10.1084/jem.20171440. Epub 2018 Feb 7.
14. Rh-CSF1 attenuates neuroinflammation via the CSF1R/PLCG2/PKCε pathway in a rat model of neonatal HIE. Hu X, etal., J Neuroinflammation. 2020 Jun 10;17(1):182. doi: 10.1186/s12974-020-01862-w.
15. Rh-CSF1 Attenuates Oxidative Stress and Neuronal Apoptosis via the CSF1R/PLCG2/PKA/UCP2 Signaling Pathway in a Rat Model of Neonatal HIE. Hu X, etal., Oxid Med Cell Longev. 2020 Oct 7;2020:6801587. doi: 10.1155/2020/6801587. eCollection 2020.
16. CSF-1 receptor-dependent colon development, homeostasis and inflammatory stress response. Huynh D, etal., PLoS One. 2013;8(2):e56951. doi: 10.1371/journal.pone.0056951. Epub 2013 Feb 22.
17. Expression of colony-stimulating factor 1 receptor during prostate development and prostate cancer progression. Ide H, etal., Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14404-9. Epub 2002 Oct 15.
18. A novel glycobiomarker, Wisteria floribunda agglutinin macrophage colony-stimulating factor receptor, for predicting carcinogenesis of liver cirrhosis. Iio E, etal., Int J Cancer. 2016 Mar 15;138(6):1462-71. doi: 10.1002/ijc.29880. Epub 2015 Oct 20.
19. Preventive and therapeutic effects of imatinib in Wistar-Kyoto rats with anti-glomerular basement membrane glomerulonephritis. Iyoda M, etal., Kidney Int. 2009 May;75(10):1060-70. doi: 10.1038/ki.2009.43. Epub 2009 Feb 25.
20. Distinct in vivo roles of colony-stimulating factor-1 isoforms in renal inflammation. Jang MH, etal., J Immunol. 2006 Sep 15;177(6):4055-63.
21. High expression of macrophage colony-stimulating factor-1 receptor in peritumoral liver tissue is associated with poor outcome in hepatocellular carcinoma after curative resection. Jia JB, etal., Oncologist. 2010;15(7):732-43. doi: 10.1634/theoncologist.2009-0170. Epub 2010 Jun 15.
22. Ultrasound Molecular Imaging as a Potential Non-invasive Diagnosis to Detect the Margin of Hepatocarcinoma via CSF-1R Targeting. Jiang Q, etal., Front Bioeng Biotechnol. 2020 Jul 14;8:783. doi: 10.3389/fbioe.2020.00783. eCollection 2020.
23. Expression of proto-oncogene cFMS protein in lung, breast, and ovarian cancers. Kakiuchi-Kiyota S, etal., Appl Immunohistochem Mol Morphol. 2014 Mar;22(3):188-99. doi: 10.1097/PAI.0b013e31828e7104.
24. A functional polymorphism in CSF1R gene is a novel susceptibility marker for lung cancer among never-smoking females. Kang HG, etal., J Thorac Oncol. 2014 Nov;9(11):1647-55. doi: 10.1097/JTO.0000000000000310.
25. Macrophage colony-stimulating factor-1 receptor expression is associated with poor outcome in breast cancer by large cohort tissue microarray analysis. Kluger HM, etal., Clin Cancer Res. 2004 Jan 1;10(1 Pt 1):173-7.
26. Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice. Lim AK, etal., Diabetologia. 2009 May 23.
27. Multiple receptor tyrosine kinases are expressed in adult rat retinal ganglion cells as revealed by single-cell degenerate primer polymerase chain reaction. Lindqvist N, etal., Ups J Med Sci. 2010 Feb;115(1):65-80. doi: 10.3109/03009731003597119.
28. Expression of macrophage colony-stimulating factor (M-CSF) and its receptor in streptozotocin-induced diabetic rats. Liu W, etal., Curr Eye Res. 2009 Feb;34(2):123-33. doi: 10.1080/02713680802650369.
29. Intravital imaging reveals distinct responses of depleting dynamic tumor-associated macrophage and dendritic cell subpopulations. Lohela M, etal., Proc Natl Acad Sci U S A. 2014 Nov 25;111(47):E5086-95. doi: 10.1073/pnas.1419899111. Epub 2014 Nov 10.
30. Macrophages contribute to cellular but not humoral mechanisms of acute rejection in rat renal allografts. Ma FY, etal., Transplantation. 2013 Dec 15;96(11):949-57. doi: 10.1097/TP.0b013e3182a4befa.
31. Autocrine CSF-1 and CSF-1 receptor coexpression promotes renal cell carcinoma growth. Menke J, etal., Cancer Res. 2012 Jan 1;72(1):187-200. doi: 10.1158/0008-5472.CAN-11-1232. Epub 2011 Nov 3.
32. Role of macrophage colony-stimulating factor in the development of neointimal thickening following arterial injury. Mishra V, etal., Cardiovasc Pathol. 2016 Jul-Aug;25(4):284-292. doi: 10.1016/j.carpath.2016.04.003. Epub 2016 Apr 11.
33. Colony-stimulating factor-1 and colony-stimulating factor-1 receptor co-expression is associated with disease progression in gastric cancer. Okugawa Y, etal., Int J Oncol. 2018 Aug;53(2):737-749. doi: 10.3892/ijo.2018.4406. Epub 2018 May 16.
34. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
35. Inhibition of the colony-stimulating-factor-1 receptor affects the resistance of lung cancer cells to cisplatin. Pass HI, etal., Oncotarget. 2016 Aug 30;7(35):56408-56421. doi: 10.18632/oncotarget.10895.
36. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
37. Targeting distinct tumor-infiltrating myeloid cells by inhibiting CSF-1 receptor: combating tumor evasion of antiangiogenic therapy. Priceman SJ, etal., Blood. 2010 Feb 18;115(7):1461-71. doi: 10.1182/blood-2009-08-237412. Epub 2009 Dec 11.
38. Pleiotropic Impacts of Macrophage and Microglial Deficiency on Development in Rats with Targeted Mutation of the Csf1r Locus. Pridans C, etal., J Immunol. 2018 Nov 1;201(9):2683-2699. doi: 10.4049/jimmunol.1701783. Epub 2018 Sep 24.
39. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
40. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
41. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
42. The prognostic impact of M-CSF, CSF-1 receptor, CD68 and CD3 in prostatic carcinoma. Richardsen E, etal., Histopathology. 2008 May 28;.
43. Targeting tumor-associated macrophages with anti-CSF-1R antibody reveals a strategy for cancer therapy. Ries CH, etal., Cancer Cell. 2014 Jun 16;25(6):846-59. doi: 10.1016/j.ccr.2014.05.016. Epub 2014 Jun 2.
44. Characterization of a p53/miR-34a/CSF1R/STAT3 Feedback Loop in Colorectal Cancer. Shi X, etal., Cell Mol Gastroenterol Hepatol. 2020;10(2):391-418. doi: 10.1016/j.jcmgh.2020.04.002. Epub 2020 Apr 15.
45. The co-regulatory networks of tumor suppressor genes, oncogenes, and miRNAs in colorectal cancer. Slattery ML, etal., Genes Chromosomes Cancer. 2017 Nov;56(11):769-787. doi: 10.1002/gcc.22481. Epub 2017 Jul 30.
46. c-fms is present in primary tumours as well as in their metastases in bone marrow. Storga D, etal., Int J Exp Pathol. 1992 Aug;73(4):527-33.
47. The promotion of breast cancer metastasis caused by inhibition of CSF-1R/CSF-1 signaling is blocked by targeting the G-CSF receptor. Swierczak A, etal., Cancer Immunol Res. 2014 Aug;2(8):765-76. doi: 10.1158/2326-6066.CIR-13-0190. Epub 2014 Apr 29.
48. Molecular profiles of non-small cell lung cancers in cigarette smoking and never-smoking patients. Szymanowska-Narloch A, etal., Adv Med Sci. 2013;58(2):196-206. doi: 10.2478/ams-2013-0025.
49. Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10K single nucleotide polymorphism mapping array. Toma MI, etal., Neoplasia. 2008 Jul;10(7):634-42.
50. The relationship between point mutation and abnormal expression of c-fms oncogene in hepatocellular carcinoma. Yang DH, etal., Hepatobiliary Pancreat Dis Int. 2004 Feb;3(1):86-9.
51. Identification of prognostic biomarkers for response to radiotherapy by DNA microarray in nasopharyngeal carcinoma patients. Yang S, etal., Int J Oncol. 2012 May;40(5):1590-600. doi: 10.3892/ijo.2012.1341. Epub 2012 Jan 20.
52. Effects of polymorphisms identified in genome-wide association studies of never-smoking females on the prognosis of non-small cell lung cancer. Yoo SS, etal., Cancer Genet. 2017 Apr;212-213:8-12. doi: 10.1016/j.cancergen.2017.03.003. Epub 2017 Mar 20.
53. Comprehensive Analysis of Competitive Endogenous RNAs Network, Being Associated With Esophageal Squamous Cell Carcinoma and Its Emerging Role in Head and Neck Squamous Cell Carcinoma. Yu D, etal., Front Oncol. 2020 Jan 21;9:1474. doi: 10.3389/fonc.2019.01474. eCollection 2019.
54. Single-Cell Analyses Inform Mechanisms of Myeloid-Targeted Therapies in Colon Cancer. Zhang L, etal., Cell. 2020 Apr 16;181(2):442-459.e29. doi: 10.1016/j.cell.2020.03.048.
55. CSF-1 signaling mediates recovery from acute kidney injury. Zhang MZ, etal., J Clin Invest. 2012 Dec 3;122(12):4519-32. doi: 10.1172/JCI60363. Epub 2012 Nov 12.
56. Four hub genes regulate tumor infiltration by immune cells, antitumor immunity in the tumor microenvironment, and survival outcomes in lung squamous cell carcinoma patients. Zhang T, etal., Aging (Albany NY). 2021 Jan 10;13(3):3819-3842. doi: 10.18632/aging.202351. Epub 2021 Jan 10.
Additional References at PubMed
PMID:1334406   PMID:1531036   PMID:1611909   PMID:1829836   PMID:1833648   PMID:2172781   PMID:2406720   PMID:2408759   PMID:2421165   PMID:2524025   PMID:2524648   PMID:2846185  
PMID:2978516   PMID:2986142   PMID:3022923   PMID:3484837   PMID:3525854   PMID:3532121   PMID:3974576   PMID:4028159   PMID:7520523   PMID:7597091   PMID:7636265   PMID:7681396  
PMID:7683918   PMID:7782294   PMID:8001978   PMID:8262059   PMID:8355686   PMID:8786123   PMID:8922060   PMID:8947469   PMID:8981357   PMID:9027509   PMID:9178909   PMID:9191055  
PMID:9380408   PMID:9616179   PMID:9624537   PMID:9857184   PMID:9949175   PMID:10022833   PMID:10025673   PMID:10499626   PMID:10597251   PMID:10648820   PMID:11297560   PMID:11847211  
PMID:11850825   PMID:11852791   PMID:11891846   PMID:12031912   PMID:12130514   PMID:12133942   PMID:12372416   PMID:12477932   PMID:12485477   PMID:12529666   PMID:12773394   PMID:14654075  
PMID:14738146   PMID:15117969   PMID:15144560   PMID:15203218   PMID:15297464   PMID:15626739   PMID:15735664   PMID:16034075   PMID:16170366   PMID:16335952   PMID:16341674   PMID:16344560  
PMID:16600665   PMID:16631474   PMID:16648572   PMID:16708222   PMID:16823860   PMID:17292918   PMID:17360941   PMID:17420255   PMID:17512498   PMID:17675037   PMID:17880962   PMID:17893228  
PMID:17960171   PMID:17981568   PMID:18294963   PMID:18593464   PMID:18676680   PMID:18788612   PMID:18814279   PMID:18971950   PMID:18997822   PMID:19017797   PMID:19132917   PMID:19151756  
PMID:19170196   PMID:19321746   PMID:19351817   PMID:19375163   PMID:19377443   PMID:19453261   PMID:19585521   PMID:19625176   PMID:19692168   PMID:19762488   PMID:20098615   PMID:20181277  
PMID:20379614   PMID:20436485   PMID:20504948   PMID:20574656   PMID:20829061   PMID:20974809   PMID:21041311   PMID:21049007   PMID:21063905   PMID:21466808   PMID:21567396   PMID:21873635  
PMID:21880693   PMID:22084313   PMID:22096574   PMID:22153499   PMID:22186992   PMID:22197934   PMID:22365076   PMID:22375015   PMID:22407921   PMID:22483114   PMID:22902366   PMID:22934315  
PMID:22939624   PMID:22955918   PMID:23038421   PMID:23052599   PMID:23116709   PMID:23392676   PMID:23398456   PMID:23408870   PMID:23418320   PMID:23478061   PMID:23649896   PMID:23744080  
PMID:23787135   PMID:23792958   PMID:23816250   PMID:23889897   PMID:23924795   PMID:24034409   PMID:24120500   PMID:24145216   PMID:24336230   PMID:24362524   PMID:24501781   PMID:24532199  
PMID:24619759   PMID:24682770   PMID:24706185   PMID:24807373   PMID:24828813   PMID:24955855   PMID:25012610   PMID:25088194   PMID:25241761   PMID:25534203   PMID:25854167   PMID:25863088  
PMID:25913741   PMID:25935893   PMID:26066800   PMID:26179200   PMID:26235028   PMID:26443621   PMID:26467457   PMID:26642091   PMID:26743272   PMID:26754294   PMID:27190017   PMID:27239844  
PMID:27334834   PMID:27338940   PMID:27568101   PMID:27602954   PMID:27680516   PMID:28065597   PMID:28319085   PMID:28655719   PMID:28724665   PMID:28827005   PMID:28875266   PMID:28921817  
PMID:29507755   PMID:29544907   PMID:29665011   PMID:29719257   PMID:29991678   PMID:30067976   PMID:30075184   PMID:30136118   PMID:30541986   PMID:30702078   PMID:30729751   PMID:30899951  
PMID:30940906   PMID:30982608   PMID:30982609   PMID:31028249   PMID:31093799   PMID:31149782   PMID:31520500   PMID:31636099   PMID:31768065   PMID:32238382   PMID:32379601   PMID:32430064  
PMID:32847933   PMID:33097690   PMID:33153411   PMID:33197935   PMID:33350588   PMID:33731849   PMID:33737586   PMID:33749994   PMID:33764399   PMID:33774864   PMID:33800170   PMID:33841415  
PMID:33948764   PMID:33961781   PMID:34069563   PMID:34135456   PMID:34155128   PMID:34298983   PMID:34510422   PMID:34652888   PMID:34830445   PMID:35040698   PMID:35290551   PMID:35384245  
PMID:35597882   PMID:35917184   PMID:36448247   PMID:36555673   PMID:36943150   PMID:37108258   PMID:37542262  


Genomics

Comparative Map Data
CSF1R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385150,053,295 - 150,113,365 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5150,053,291 - 150,113,372 (-)EnsemblGRCh38hg38GRCh38
GRCh375149,432,858 - 149,492,928 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365149,413,051 - 149,473,128 (-)NCBINCBI36Build 36hg18NCBI36
Build 345149,413,050 - 149,473,128NCBI
Celera5145,514,237 - 145,574,309 (-)NCBICelera
Cytogenetic Map5q32NCBI
HuRef5144,580,804 - 144,640,914 (-)NCBIHuRef
CHM1_15148,865,545 - 148,925,516 (-)NCBICHM1_1
T2T-CHM13v2.05150,589,842 - 150,649,957 (-)NCBIT2T-CHM13v2.0
Csf1r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391861,238,644 - 61,264,211 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1861,233,670 - 61,265,221 (+)EnsemblGRCm39 Ensembl
GRCm381861,105,572 - 61,131,139 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1861,100,598 - 61,132,149 (+)EnsemblGRCm38mm10GRCm38
MGSCv371861,265,226 - 61,290,793 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361861,230,941 - 61,256,506 (+)NCBIMGSCv36mm8
Celera1862,392,678 - 62,417,929 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1834.41NCBI
Csf1r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21854,546,673 - 54,590,418 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1854,546,659 - 54,590,415 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1856,651,929 - 56,678,637 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01857,366,526 - 57,393,238 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01855,187,862 - 55,214,296 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01856,414,493 - 56,458,300 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1856,414,488 - 56,458,300 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01855,662,670 - 55,689,297 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41857,080,324 - 57,107,295 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1852,716,221 - 52,742,736 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Csf1r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554154,434,453 - 4,461,751 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554154,434,486 - 4,462,505 (+)NCBIChiLan1.0ChiLan1.0
CSF1R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan15143,422,593 - 143,481,722 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05145,478,725 - 145,537,858 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15151,483,948 - 151,543,128 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5151,483,572 - 151,517,415 (-)Ensemblpanpan1.1panPan2
CSF1R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1458,980,699 - 59,010,683 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl458,980,788 - 59,010,510 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha458,746,695 - 58,776,657 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0459,461,238 - 59,491,183 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl459,444,535 - 59,544,925 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1459,249,977 - 59,279,943 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0459,364,574 - 59,394,530 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0459,895,615 - 59,925,571 (+)NCBIUU_Cfam_GSD_1.0
Csf1r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213143,324,957 - 143,353,222 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365044,898,945 - 4,928,923 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365044,898,947 - 4,927,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSF1R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2151,102,147 - 151,147,633 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12151,102,138 - 151,130,311 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22157,855,536 - 157,882,913 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CSF1R
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12352,663,290 - 52,723,652 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2352,664,076 - 52,697,304 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603424,993,437 - 25,053,747 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csf1r
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247749,363,908 - 9,391,986 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247749,363,156 - 9,391,939 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSF1R
648 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001288705.3(CSF1R):c.1766G>A (p.Gly589Glu) single nucleotide variant not provided [RCV001852634] Chr5:150061583 [GRCh38]
Chr5:149441146 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2297T>C (p.Met766Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031928] Chr5:150057309 [GRCh38]
Chr5:149436872 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2308G>C (p.Ala770Pro) single nucleotide variant not provided [RCV001268235] Chr5:150057298 [GRCh38]
Chr5:149436861 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2320-2A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031930] Chr5:150056343 [GRCh38]
Chr5:149435906 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2324T>A (p.Ile775Asn) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031931] Chr5:150056337 [GRCh38]
Chr5:149435900 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002482936]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000031932]|not provided [RCV001561353] Chr5:150056316 [GRCh38]
Chr5:149435879 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_001288705.3(CSF1R):c.2442+5G>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031933] Chr5:150056214 [GRCh38]
Chr5:149435777 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031934] Chr5:150056034 [GRCh38]
Chr5:149435597 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2543TCT[1] (p.Phe849del) microsatellite Hereditary diffuse leukoencephalopathy with spheroids [RCV000031935] Chr5:150056032..150056034 [GRCh38]
Chr5:149435595..149435597 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2603T>C (p.Leu868Pro) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031936] Chr5:150055288 [GRCh38]
Chr5:149434851 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2632C>A (p.Pro878Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000031937] Chr5:150055259 [GRCh38]
Chr5:149434822 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000022684] Chr5:150055267 [GRCh38]
Chr5:149434830 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000022685]|not provided [RCV001565941] Chr5:150060934 [GRCh38]
Chr5:149440497 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_001288705.3(CSF1R):c.1754-2A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000022686] Chr5:150061597 [GRCh38]
Chr5:149441160 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000022687]|not provided [RCV001090375] Chr5:150056280 [GRCh38]
Chr5:149435843 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000022688] Chr5:150056071 [GRCh38]
Chr5:149435634 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.592G>T (p.Val198Phe) single nucleotide variant not provided [RCV000519164] Chr5:150080052 [GRCh38]
Chr5:149459615 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000055910] Chr5:150060873 [GRCh38]
Chr5:149440436 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000055911]|not provided [RCV001854158] Chr5:150056332 [GRCh38]
Chr5:149435895 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000055912] Chr5:150056097 [GRCh38]
Chr5:149435660 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2442+1G>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000106404] Chr5:150056218 [GRCh38]
Chr5:149435781 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000106405] Chr5:150056319 [GRCh38]
Chr5:149435882 [GRCh37]
Chr5:5q32
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) duplication Hereditary diffuse leukoencephalopathy with spheroids [RCV000106403] Chr5:150059771..150059772 [GRCh38]
Chr5:149439334..149439335 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2613T>G (p.Asp871Glu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001333368] Chr5:150055278 [GRCh38]
Chr5:149434841 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1131C>T (p.Gly377=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001333366]|not provided [RCV002070174] Chr5:150070523 [GRCh38]
Chr5:149450086 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2222-18C>T single nucleotide variant not provided [RCV001579544] Chr5:150057402 [GRCh38]
Chr5:149436965 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001331372] Chr5:150056077 [GRCh38]
Chr5:149435640 [GRCh37]
Chr5:5q32
likely pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) deletion Hereditary diffuse leukoencephalopathy with spheroids [RCV000149521] Chr5:150061777 [GRCh38]
Chr5:149441340 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149522] Chr5:150060942 [GRCh38]
Chr5:149440505 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149523]|not provided [RCV001850025] Chr5:150056331 [GRCh38]
Chr5:149435894 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149524] Chr5:150056130 [GRCh38]
Chr5:149435693 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149525] Chr5:150056100 [GRCh38]
Chr5:149435663 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149526] Chr5:150056039 [GRCh38]
Chr5:149435602 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149527] Chr5:150055325 [GRCh38]
Chr5:149434888 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149528] Chr5:150054384 [GRCh38]
Chr5:149433947 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2655-2A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149529] Chr5:150054432 [GRCh38]
Chr5:149433995 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149530]|not provided [RCV001850026] Chr5:150056319 [GRCh38]
Chr5:149435882 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149531] Chr5:150056052 [GRCh38]
Chr5:149435615 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149532]|not provided [RCV000585150] Chr5:150055262 [GRCh38]
Chr5:149434825 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic
NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149533] Chr5:150056068 [GRCh38]
Chr5:149435631 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149534] Chr5:150056053 [GRCh38]
Chr5:149435616 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149535]|not provided [RCV001753529] Chr5:150060874 [GRCh38]
Chr5:149440437 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance|not provided
NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149536]|not provided [RCV001850027] Chr5:150054368 [GRCh38]
Chr5:149433931 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance|not provided
NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149537] Chr5:150056283 [GRCh38]
Chr5:149435846 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_005211.3(CSF1R):c.2467C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149538] Chr5:150056112 [GRCh38]
Chr5:149435675 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149539] Chr5:150061731 [GRCh38]
Chr5:149441294 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149540] Chr5:150056311 [GRCh38]
Chr5:149435874 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149541]|not provided [RCV001171967] Chr5:150055329 [GRCh38]
Chr5:149434892 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance|not provided
NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000149542] Chr5:150057312 [GRCh38]
Chr5:149436875 [GRCh37]
Chr5:5q32
pathogenic|not provided
NM_001288705.3(CSF1R):c.1929C>T (p.His643=) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002504163]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000259350]|not provided [RCV000906141] Chr5:150060902 [GRCh38]
Chr5:149440465 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000262118]|not provided [RCV000881997]|not specified [RCV001579408] Chr5:150054189 [GRCh38]
Chr5:149433752 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000265552]|Inborn genetic diseases [RCV002520344]|not provided [RCV000998471] Chr5:150080126 [GRCh38]
Chr5:149459689 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*249A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000278261] Chr5:150053820 [GRCh38]
Chr5:149433383 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000283749]|not provided [RCV000951260]|not specified [RCV001795972] Chr5:150070264 [GRCh38]
Chr5:149449827 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248] Chr5:150070569 [GRCh38]
Chr5:149450132 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.294C>T (p.His98=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000280856]|not provided [RCV001517535]|not specified [RCV001579463] Chr5:150080780 [GRCh38]
Chr5:149460343 [GRCh37]
Chr5:5q32
benign|likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.*500C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000282534] Chr5:150053569 [GRCh38]
Chr5:149433132 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000265478]|not provided [RCV002058516] Chr5:150054102 [GRCh38]
Chr5:149433665 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.*715C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000270938] Chr5:150053354 [GRCh38]
Chr5:149432917 [GRCh37]
Chr5:5q32
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000275379]|not provided [RCV000921039] Chr5:150061775 [GRCh38]
Chr5:149441338 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1626+3G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000272029]|Inborn genetic diseases [RCV002520342]|not provided [RCV000971516] Chr5:150068212 [GRCh38]
Chr5:149447775 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2761C>T (p.Arg921Trp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000276317]|not provided [RCV002061267] Chr5:150054324 [GRCh38]
Chr5:149433887 [GRCh37]
Chr5:5q32
benign|uncertain significance
NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) deletion Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785987]|not provided [RCV000522082] Chr5:150060950..150060952 [GRCh38]
Chr5:149440513..149440515 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.*539C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000266964] Chr5:150053530 [GRCh38]
Chr5:149433093 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662318]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000268833]|not provided [RCV001521046] Chr5:150078115 [GRCh38]
Chr5:149457678 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2132+8del deletion Hereditary diffuse leukoencephalopathy with spheroids [RCV000299252] Chr5:150059692 [GRCh38]
Chr5:149439255 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*234del deletion Hereditary diffuse leukoencephalopathy with spheroids [RCV000351959] Chr5:150053835 [GRCh38]
Chr5:149433398 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*199A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000396988] Chr5:150053870 [GRCh38]
Chr5:149433433 [GRCh37]
Chr5:5q32
benign|likely benign
NM_005211.4(CSF1R):c.-230GAAGAG[3] microsatellite Hereditary diffuse leukoencephalopathy with spheroids [RCV000299451] Chr5:150113287..150113292 [GRCh38]
Chr5:149492850..149492855 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2132+5C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000354126]|not provided [RCV001521045]|not specified [RCV001795971] Chr5:150059695 [GRCh38]
Chr5:149439258 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.*64C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000399133] Chr5:150054005 [GRCh38]
Chr5:149433568 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1083-8T>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000335208]|not provided [RCV000971517] Chr5:150070579 [GRCh38]
Chr5:149450142 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*512T>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000376771] Chr5:150053557 [GRCh38]
Chr5:149433120 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000302042]|not provided [RCV001357348] Chr5:150054126 [GRCh38]
Chr5:149433689 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000317221]|not provided [RCV000887672]|not specified [RCV001579464] Chr5:150080792 [GRCh38]
Chr5:149460355 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000317297]|not provided [RCV002061266] Chr5:150054192 [GRCh38]
Chr5:149433755 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_005211.4(CSF1R):c.-249G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000356358] Chr5:150113329 [GRCh38]
Chr5:149492892 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000356906]|not provided [RCV000894549] Chr5:150054183 [GRCh38]
Chr5:149433746 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*774A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000401954] Chr5:150053295 [GRCh38]
Chr5:149432858 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000401860]|Inborn genetic diseases [RCV002523513]|not provided [RCV000900257] Chr5:150077401 [GRCh38]
Chr5:149456964 [GRCh37]
Chr5:5q32
benign|likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2217G>T (p.Glu739Asp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000302987] Chr5:150057508 [GRCh38]
Chr5:149437071 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*405G>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000318832] Chr5:150053664 [GRCh38]
Chr5:149433227 [GRCh37]
Chr5:5q32
benign|likely benign
NM_005211.4(CSF1R):c.-187G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000357654] Chr5:150113267 [GRCh38]
Chr5:149492830 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000402541]|not provided [RCV000899955] Chr5:150070543 [GRCh38]
Chr5:149450106 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1404G>A (p.Val468=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000286861]|not provided [RCV002061268] Chr5:150069979 [GRCh38]
Chr5:149449542 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000338738]|not provided [RCV001579847] Chr5:150070475 [GRCh38]
Chr5:149450038 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2166C>T (p.Thr722=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000339191]|not provided [RCV002058520] Chr5:150057559 [GRCh38]
Chr5:149437122 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1520C>T (p.Thr507Met) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000381774]|not provided [RCV002520343] Chr5:150068321 [GRCh38]
Chr5:149447884 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2508C>T (p.Ser836=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000382166]|not provided [RCV002058517] Chr5:150056072 [GRCh38]
Chr5:149435635 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002488775]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000404408]|not provided [RCV000899774] Chr5:150080882 [GRCh38]
Chr5:149460445 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2499G>A (p.Thr833=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000287774]|not provided [RCV002058518] Chr5:150056081 [GRCh38]
Chr5:149435644 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000320554]|Inborn genetic diseases [RCV002520345]|not provided [RCV000913539] Chr5:150080328 [GRCh38]
Chr5:149459891 [GRCh37]
Chr5:5q32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.*35C>T single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662317]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000360123]|not provided [RCV001636977] Chr5:150054034 [GRCh38]
Chr5:149433597 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.593-9C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000360223]|not provided [RCV000900536] Chr5:150078257 [GRCh38]
Chr5:149457820 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*36A>C single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662316]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000305450]|not provided [RCV001618634] Chr5:150054033 [GRCh38]
Chr5:149433596 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.*531C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000322128] Chr5:150053538 [GRCh38]
Chr5:149433101 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000306661] Chr5:150086415 [GRCh38]
Chr5:149465978 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1319+12C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000323194] Chr5:150070170 [GRCh38]
Chr5:149449733 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2258G>A (p.Arg753Gln) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000342657]|not provided [RCV002058519] Chr5:150057348 [GRCh38]
Chr5:149436911 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000363317]|not provided [RCV001850861] Chr5:150077432 [GRCh38]
Chr5:149456995 [GRCh37]
Chr5:5q32
benign|likely benign|uncertain significance
NM_001288705.3(CSF1R):c.-25T>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000363553] Chr5:150086452 [GRCh38]
Chr5:149466015 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000385964]|not provided [RCV000974616]|not specified [RCV001795970] Chr5:150054376 [GRCh38]
Chr5:149433939 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000323908]|not provided [RCV000966972] Chr5:150078120 [GRCh38]
Chr5:149457683 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*231_*232insG insertion Hereditary diffuse leukoencephalopathy with spheroids [RCV000293565] Chr5:150053837..150053838 [GRCh38]
Chr5:149433400..149433401 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000308564]|not provided [RCV000946890] Chr5:150077432 [GRCh38]
Chr5:149456995 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.*604A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000325526] Chr5:150053465 [GRCh38]
Chr5:149433028 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*116C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000344888] Chr5:150053953 [GRCh38]
Chr5:149433516 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.*721_*724del deletion Hereditary diffuse leukoencephalopathy with spheroids [RCV000365395] Chr5:150053345..150053348 [GRCh38]
Chr5:149432908..149432911 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000389397]|Inborn genetic diseases [RCV002520339]|not provided [RCV002520340] Chr5:150054323 [GRCh38]
Chr5:149433886 [GRCh37]
Chr5:5q32
benign|uncertain significance
NM_001288705.3(CSF1R):c.178C>T (p.Leu60=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000293790]|not provided [RCV000970309] Chr5:150080896 [GRCh38]
Chr5:149460459 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000327207]|not provided [RCV000942553] Chr5:150068235 [GRCh38]
Chr5:149447798 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000346258]|not provided [RCV001513633] Chr5:150056045 [GRCh38]
Chr5:149435608 [GRCh37]
Chr5:5q32
benign|likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000346339]|not provided [RCV000966352]|not specified [RCV001579719] Chr5:150080979 [GRCh38]
Chr5:149460542 [GRCh37]
Chr5:5q32
benign|likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.1626+7C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000366714]|not provided [RCV001522247] Chr5:150068208 [GRCh38]
Chr5:149447771 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000367035]|not provided [RCV000897858] Chr5:150077363 [GRCh38]
Chr5:149456926 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*769A>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000310853] Chr5:150053300 [GRCh38]
Chr5:149432863 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.225C>T (p.Thr75=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000296207]|not provided [RCV002520346] Chr5:150080849 [GRCh38]
Chr5:149460412 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*231C>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000348297] Chr5:150053838 [GRCh38]
Chr5:149433401 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000370032]|not provided [RCV002520341] Chr5:150061760 [GRCh38]
Chr5:149441323 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000312247]|not provided [RCV000888415]|not specified [RCV001796744] Chr5:150077330 [GRCh38]
Chr5:149456893 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1626+12C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000330525]|not provided [RCV001516465] Chr5:150068203 [GRCh38]
Chr5:149447766 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000371986]|not provided [RCV000889595] Chr5:150080806 [GRCh38]
Chr5:149460369 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000394491]|not provided [RCV000885737]|not specified [RCV002282125] Chr5:150077284 [GRCh38]
Chr5:149456847 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000331413]|not provided [RCV000973090] Chr5:150054325 [GRCh38]
Chr5:149433888 [GRCh37]
Chr5:5q32
benign|likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000351143]|not provided [RCV000890096] Chr5:150080850 [GRCh38]
Chr5:149460413 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.*310C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000373433] Chr5:150053759 [GRCh38]
Chr5:149433322 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000395559]|not provided [RCV000901143] Chr5:150057367 [GRCh38]
Chr5:149436930 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.2165C>A (p.Thr722Asn) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000395556] Chr5:150057560 [GRCh38]
Chr5:149437123 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662319]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000395882]|not provided [RCV001522249] Chr5:150080990 [GRCh38]
Chr5:149460553 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.-101G>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000395888] Chr5:150086528 [GRCh38]
Chr5:149466091 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.*232_*233dup duplication Hereditary diffuse leukoencephalopathy with spheroids [RCV000387788] Chr5:150053835..150053836 [GRCh38]
Chr5:149433398..149433399 [GRCh37]
Chr5:5q32
uncertain significance
NM_005211.4(CSF1R):c.-199G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000265354] Chr5:150113279 [GRCh38]
Chr5:149492842 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs) duplication Hereditary diffuse leukoencephalopathy with spheroids [RCV000490465] Chr5:150054078..150054079 [GRCh38]
Chr5:149433641..149433642 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2345G>T (p.Arg782Leu) single nucleotide variant not provided [RCV000488391] Chr5:150056316 [GRCh38]
Chr5:149435879 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2622A>C (p.Gln874His) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000291372] Chr5:150055269 [GRCh38]
Chr5:149434832 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*561C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000361550] Chr5:150053508 [GRCh38]
Chr5:149433071 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1753+15C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000315377] Chr5:150061708 [GRCh38]
Chr5:149441271 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.-102C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000305256] Chr5:150086529 [GRCh38]
Chr5:149466092 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*156G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000308657] Chr5:150053913 [GRCh38]
Chr5:149433476 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.307+5G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000375204]|not provided [RCV001310530] Chr5:150080762 [GRCh38]
Chr5:149460325 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000377854] Chr5:150070195 [GRCh38]
Chr5:149449758 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.449G>A (p.Arg150His) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001153080]|not provided [RCV000584893] Chr5:150080195 [GRCh38]
Chr5:149459758 [GRCh37]
Chr5:5q32
uncertain significance
NM_005211.4(CSF1R):c.-200C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151924] Chr5:150113280 [GRCh38]
Chr5:149492843 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile) single nucleotide variant not provided [RCV000415805] Chr5:150069963 [GRCh38]
Chr5:149449526 [GRCh37]
Chr5:5q32
conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly) single nucleotide variant not provided [RCV000416171] Chr5:150055285 [GRCh38]
Chr5:149434848 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln) single nucleotide variant Inborn genetic diseases [RCV002521451]|Parkinsonism [RCV000415068] Chr5:150078194 [GRCh38]
Chr5:149457757 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) single nucleotide variant Hematologic neoplasm [RCV000430977]|Myeloproliferative disorder [RCV000440400] Chr5:150061765 [GRCh38]
Chr5:149441328 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.902T>A (p.Leu301Ter) single nucleotide variant Neoplasm [RCV000434527] Chr5:150073481 [GRCh38]
Chr5:149453044 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser) single nucleotide variant Hematologic neoplasm [RCV000441113]|Neoplasm [RCV000424293] Chr5:150073481 [GRCh38]
Chr5:149453044 [GRCh37]
Chr5:5q32
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter) single nucleotide variant Neoplasm [RCV000429439] Chr5:150054081 [GRCh38]
Chr5:149433644 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe) single nucleotide variant Hematologic neoplasm [RCV000432996] Chr5:150073480 [GRCh38]
Chr5:149453043 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys) single nucleotide variant Hematologic neoplasm [RCV000440792]|Neoplasm [RCV000429697] Chr5:150054082 [GRCh38]
Chr5:149433645 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter) single nucleotide variant Neoplasm [RCV000418290] Chr5:150054081 [GRCh38]
Chr5:149433644 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe) single nucleotide variant Hematologic neoplasm [RCV000439671]|Neoplasm [RCV000419424] Chr5:150054082 [GRCh38]
Chr5:149433645 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His) single nucleotide variant Hematologic neoplasm [RCV000434345]|Neoplasm [RCV000423228] Chr5:150054083 [GRCh38]
Chr5:149433646 [GRCh37]
Chr5:5q32
likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_001288705.3(CSF1R):c.2450T>A (p.Leu817Gln) single nucleotide variant not provided [RCV000479111] Chr5:150056130 [GRCh38]
Chr5:149435693 [GRCh37]
Chr5:5q32
likely pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_001288705.3(CSF1R):c.2873A>T (p.Asp958Val) single nucleotide variant not provided [RCV000497696] Chr5:150054115 [GRCh38]
Chr5:149433678 [GRCh37]
Chr5:5q32
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001288705.3(CSF1R):c.1772G>C (p.Gly591Ala) single nucleotide variant Inborn genetic diseases [RCV003282438] Chr5:150061577 [GRCh38]
Chr5:149441140 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=) single nucleotide variant not provided [RCV000585523] Chr5:150073327 [GRCh38]
Chr5:149452890 [GRCh37]
Chr5:5q32
conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.2460G>A (p.Lys820=) single nucleotide variant not provided [RCV002064300]|not specified [RCV000613310] Chr5:150056120 [GRCh38]
Chr5:149435683 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1672G>A (p.Gly558Ser) single nucleotide variant Inborn genetic diseases [RCV003242605] Chr5:150061804 [GRCh38]
Chr5:149441367 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1202C>T (p.Pro401Leu) single nucleotide variant not provided [RCV000512701] Chr5:150070299 [GRCh38]
Chr5:149449862 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157186]|Inborn genetic diseases [RCV002524968]|not provided [RCV000513367] Chr5:150054339 [GRCh38]
Chr5:149433902 [GRCh37]
Chr5:5q32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785985]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001849409]|Inborn genetic diseases [RCV000624615]|not provided [RCV001860422] Chr5:150069942 [GRCh38]
Chr5:149449505 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001808039] Chr5:150073314 [GRCh38]
Chr5:149452877 [GRCh37]
Chr5:5q32
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) single nucleotide variant Alzheimer disease [RCV000736245] Chr5:150054414 [GRCh38]
Chr5:149433977 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) single nucleotide variant Alzheimer disease [RCV000736246] Chr5:150056335 [GRCh38]
Chr5:149435898 [GRCh37]
Chr5:5q32
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) indel Hereditary diffuse leukoencephalopathy with spheroids [RCV000754617] Chr5:150056050..150056053 [GRCh38]
Chr5:149435613..149435616 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2762G>A (p.Arg921Gln) single nucleotide variant not provided [RCV000893554] Chr5:150054323 [GRCh38]
Chr5:149433886 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001724744]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002290740]|not provided [RCV002539735] Chr5:150056317 [GRCh38]
Chr5:149435880 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.889+68G>T single nucleotide variant not provided [RCV001647786] Chr5:150077208 [GRCh38]
Chr5:149456771 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1969+182C>T single nucleotide variant not provided [RCV001611925] Chr5:150060680 [GRCh38]
Chr5:149440243 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1858+203A>G single nucleotide variant not provided [RCV001690706] Chr5:150061288 [GRCh38]
Chr5:149440851 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.307+154C>T single nucleotide variant not provided [RCV001612036] Chr5:150080613 [GRCh38]
Chr5:149460176 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1970-69G>T single nucleotide variant not provided [RCV001690830] Chr5:150059931 [GRCh38]
Chr5:149439494 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1754-3C>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001706768] Chr5:150061598 [GRCh38]
Chr5:149441161 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.457A>C (p.Asn153His) single nucleotide variant not provided [RCV000916622] Chr5:150080187 [GRCh38]
Chr5:149459750 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2829G>A (p.Glu943=) single nucleotide variant not provided [RCV000894164] Chr5:150054159 [GRCh38]
Chr5:149433722 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2304C>A (p.Phe768Leu) single nucleotide variant not provided [RCV000762177] Chr5:150057302 [GRCh38]
Chr5:149436865 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.2165_2166delinsAT (p.Thr722Asn) indel not provided [RCV001963975] Chr5:150057559..150057560 [GRCh38]
Chr5:149437122..149437123 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2240G>T (p.Gly747Val) single nucleotide variant not provided [RCV000982432] Chr5:150057366 [GRCh38]
Chr5:149436929 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1760C>T (p.Thr587Ile) single nucleotide variant not provided [RCV000923549] Chr5:150061589 [GRCh38]
Chr5:149441152 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) single nucleotide variant not provided [RCV000925151] Chr5:150080276 [GRCh38]
Chr5:149459839 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2658C>T (p.Tyr886=) single nucleotide variant not provided [RCV000927033] Chr5:150054427 [GRCh38]
Chr5:149433990 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.417G>A (p.Ser139=) single nucleotide variant not provided [RCV000946891] Chr5:150080227 [GRCh38]
Chr5:149459790 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2537G>C (p.Trp846Ser) single nucleotide variant not provided [RCV001048634] Chr5:150056043 [GRCh38]
Chr5:149435606 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.42T>G (p.Ala14=) single nucleotide variant not provided [RCV000938870] Chr5:150086386 [GRCh38]
Chr5:149465949 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.456C>T (p.Thr152=) single nucleotide variant not provided [RCV000937797] Chr5:150080188 [GRCh38]
Chr5:149459751 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.219C>T (p.Asn73=) single nucleotide variant not provided [RCV000976748] Chr5:150080855 [GRCh38]
Chr5:149460418 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) single nucleotide variant not provided [RCV000915953] Chr5:150061550 [GRCh38]
Chr5:149441113 [GRCh37]
Chr5:5q32
likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.483C>G (p.Gly161=) single nucleotide variant not provided [RCV000979290] Chr5:150080161 [GRCh38]
Chr5:149459724 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2349C>T (p.Asn783=) single nucleotide variant not provided [RCV000943162] Chr5:150056312 [GRCh38]
Chr5:149435875 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala) single nucleotide variant not provided [RCV003313463] Chr5:150080157 [GRCh38]
Chr5:149459720 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1238G>T (p.Gly413Val) single nucleotide variant not provided [RCV003313464] Chr5:150070263 [GRCh38]
Chr5:149449826 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp) single nucleotide variant not provided [RCV000998469] Chr5:150056286 [GRCh38]
Chr5:149435849 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.1969+115_1969+116del deletion Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785988] Chr5:150060746..150060747 [GRCh38]
Chr5:149440309..149440310 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1754-1G>C single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785989] Chr5:150061596 [GRCh38]
Chr5:149441159 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1796C>T (p.Ala599Val) single nucleotide variant not provided [RCV000998470] Chr5:150061553 [GRCh38]
Chr5:149441116 [GRCh37]
Chr5:5q32
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785984] Chr5:150080249 [GRCh38]
Chr5:149459812 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785990]|not provided [RCV003117575] Chr5:150060902 [GRCh38]
Chr5:149440465 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.*233C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151624] Chr5:150053836 [GRCh38]
Chr5:149433399 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*232C>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151625] Chr5:150053837 [GRCh38]
Chr5:149433400 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*221C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151627] Chr5:150053848 [GRCh38]
Chr5:149433411 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr) single nucleotide variant not provided [RCV001090378] Chr5:150078183 [GRCh38]
Chr5:149457746 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1859-119G>A single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785986]|not specified [RCV002469289] Chr5:150061091 [GRCh38]
Chr5:149440654 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys) single nucleotide variant not provided [RCV001090377] Chr5:150070522 [GRCh38]
Chr5:149450085 [GRCh37]
Chr5:5q32
conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196009]|not provided [RCV001876271] Chr5:150069981 [GRCh38]
Chr5:149449544 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp) single nucleotide variant See cases [RCV001197110] Chr5:150054072 [GRCh38]
Chr5:149433635 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001249778]|not provided [RCV001751515] Chr5:150080147 [GRCh38]
Chr5:149459710 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1990G>A (p.Glu664Lys) single nucleotide variant not provided [RCV003313561] Chr5:150059842 [GRCh38]
Chr5:149439405 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys) single nucleotide variant Frontotemporal dementia [RCV001090101] Chr5:150054386 [GRCh38]
Chr5:149433949 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2210T>C (p.Phe737Ser) single nucleotide variant not provided [RCV001090376] Chr5:150057515 [GRCh38]
Chr5:149437078 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*733G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155388] Chr5:150053336 [GRCh38]
Chr5:149432899 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1510+13C>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155616]|not provided [RCV002070912] Chr5:150069860 [GRCh38]
Chr5:149449423 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.*230C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151626] Chr5:150053839 [GRCh38]
Chr5:149433402 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.299A>G (p.Tyr100Cys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155700] Chr5:150080775 [GRCh38]
Chr5:149460338 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2797G>A (p.Gly933Ser) single nucleotide variant not provided [RCV003105004] Chr5:150054191 [GRCh38]
Chr5:149433754 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2133-35G>C single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001658349]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001658348]|not provided [RCV001639337] Chr5:150057627 [GRCh38]
Chr5:149437190 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1970-163A>G single nucleotide variant not provided [RCV001643246] Chr5:150060025 [GRCh38]
Chr5:149439588 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2242C>T (p.Arg748Trp) single nucleotide variant not provided [RCV003107012] Chr5:150057364 [GRCh38]
Chr5:149436927 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2863G>A (p.Glu955Lys) single nucleotide variant not provided [RCV003107064] Chr5:150054125 [GRCh38]
Chr5:149433688 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1969+311G>A single nucleotide variant not provided [RCV001648443] Chr5:150060551 [GRCh38]
Chr5:149440114 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1859-188C>T single nucleotide variant not provided [RCV001649741] Chr5:150061160 [GRCh38]
Chr5:149440723 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1626+150T>C single nucleotide variant not provided [RCV001676345] Chr5:150068065 [GRCh38]
Chr5:149447628 [GRCh37]
Chr5:5q32
benign
NM_005211.4(CSF1R):c.-180-145G>C single nucleotide variant not provided [RCV001656938] Chr5:150086752 [GRCh38]
Chr5:149466315 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) single nucleotide variant not provided [RCV000886570] Chr5:150054147 [GRCh38]
Chr5:149433710 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1515C>T (p.Ala505=) single nucleotide variant not provided [RCV000900691] Chr5:150068326 [GRCh38]
Chr5:149447889 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155614]|not provided [RCV000883769] Chr5:150068289 [GRCh38]
Chr5:149447852 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.348C>T (p.Val116=) single nucleotide variant not provided [RCV000982221] Chr5:150080296 [GRCh38]
Chr5:149459859 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2136C>T (p.Asp712=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151727] Chr5:150057589 [GRCh38]
Chr5:149437152 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1587G>A (p.Leu529=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155612]|not provided [RCV002557329] Chr5:150068254 [GRCh38]
Chr5:149447817 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1518C>T (p.His506=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155615] Chr5:150068323 [GRCh38]
Chr5:149447886 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157187]|not provided [RCV002032454] Chr5:150055288 [GRCh38]
Chr5:149434851 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1216G>A (p.Val406Ile) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157284] Chr5:150070285 [GRCh38]
Chr5:149449848 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2082G>A (p.Glu694=) single nucleotide variant not provided [RCV000911068] Chr5:150059750 [GRCh38]
Chr5:149439313 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1753+7T>C single nucleotide variant not provided [RCV000934958] Chr5:150061716 [GRCh38]
Chr5:149441279 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1199-6C>T single nucleotide variant Inborn genetic diseases [RCV002544494]|not provided [RCV000935369] Chr5:150070308 [GRCh38]
Chr5:149449871 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2664C>A (p.Ile888=) single nucleotide variant not provided [RCV000935135] Chr5:150054421 [GRCh38]
Chr5:149433984 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2222-3T>C single nucleotide variant not provided [RCV001579509] Chr5:150057387 [GRCh38]
Chr5:149436950 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.601G>C (p.Gly201Arg) single nucleotide variant not provided [RCV001562456] Chr5:150078240 [GRCh38]
Chr5:149457803 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV000987617] Chr5:150056049 [GRCh38]
Chr5:149435612 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.889+28C>T single nucleotide variant not provided [RCV001636456] Chr5:150077248 [GRCh38]
Chr5:149456811 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1859-204T>C single nucleotide variant not provided [RCV001687344] Chr5:150061176 [GRCh38]
Chr5:149440739 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1969+91C>T single nucleotide variant not provided [RCV001597607] Chr5:150060771 [GRCh38]
Chr5:149440334 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1858+37del deletion not provided [RCV001696269] Chr5:150061454 [GRCh38]
Chr5:149441017 [GRCh37]
Chr5:5q32
benign
NM_005211.4(CSF1R):c.-180-119A>G single nucleotide variant not provided [RCV001677456] Chr5:150086726 [GRCh38]
Chr5:149466289 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1859-109G>A single nucleotide variant not provided [RCV001595444] Chr5:150061081 [GRCh38]
Chr5:149440644 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.50-214G>A single nucleotide variant not provided [RCV001653351] Chr5:150081238 [GRCh38]
Chr5:149460801 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2133-160G>A single nucleotide variant not provided [RCV001595738] Chr5:150057752 [GRCh38]
Chr5:149437315 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.889+67A>T single nucleotide variant not provided [RCV001598833] Chr5:150077209 [GRCh38]
Chr5:149456772 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1969+264C>T single nucleotide variant not provided [RCV001678301] Chr5:150060598 [GRCh38]
Chr5:149440161 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.592+54C>G single nucleotide variant not provided [RCV001638456] Chr5:150079998 [GRCh38]
Chr5:149459561 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1511-167C>T single nucleotide variant not provided [RCV001613931] Chr5:150068497 [GRCh38]
Chr5:149448060 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.*619G>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155389] Chr5:150053450 [GRCh38]
Chr5:149433013 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*263G>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157075] Chr5:150053806 [GRCh38]
Chr5:149433369 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.195C>T (p.Ser65=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157390] Chr5:150080879 [GRCh38]
Chr5:149460442 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.49+14G>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157391]|not provided [RCV002558374] Chr5:150086365 [GRCh38]
Chr5:149465928 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) deletion Hereditary diffuse leukoencephalopathy with spheroids [RCV001253191] Chr5:150054363..150054365 [GRCh38]
Chr5:149433926..149433928 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.-115C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151923] Chr5:150086542 [GRCh38]
Chr5:149466105 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001153078] Chr5:150078121 [GRCh38]
Chr5:149457684 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001153079] Chr5:150078200 [GRCh38]
Chr5:149457763 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.*749C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155387] Chr5:150053320 [GRCh38]
Chr5:149432883 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg) single nucleotide variant not provided [RCV001171968] Chr5:150056109 [GRCh38]
Chr5:149435672 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.*5T>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001154674] Chr5:150054064 [GRCh38]
Chr5:149433627 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*532G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155390] Chr5:150053537 [GRCh38]
Chr5:149433100 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151837]|not provided [RCV001858996] Chr5:150073488 [GRCh38]
Chr5:149453051 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2442+23C>T single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001661315]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001661314]|not provided [RCV001713673] Chr5:150056196 [GRCh38]
Chr5:149435759 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.592+41G>A single nucleotide variant not provided [RCV001650813] Chr5:150080011 [GRCh38]
Chr5:149459574 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1970-33A>C single nucleotide variant not provided [RCV001645959] Chr5:150059895 [GRCh38]
Chr5:149439458 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2654+116A>C single nucleotide variant not provided [RCV001667118] Chr5:150055121 [GRCh38]
Chr5:149434684 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1082+71G>A single nucleotide variant not provided [RCV001714133] Chr5:150073230 [GRCh38]
Chr5:149452793 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1859-242C>T single nucleotide variant not provided [RCV001690197] Chr5:150061214 [GRCh38]
Chr5:149440777 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.49+51A>G single nucleotide variant not provided [RCV001611388] Chr5:150086328 [GRCh38]
Chr5:149465891 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2319+164A>C single nucleotide variant not provided [RCV001685641] Chr5:150057123 [GRCh38]
Chr5:149436686 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151728]|not provided [RCV002557274] Chr5:150059703 [GRCh38]
Chr5:149439266 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.349G>A (p.Val117Met) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196349] Chr5:150080295 [GRCh38]
Chr5:149459858 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.943G>A (p.Val315Met) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001151836]|Inborn genetic diseases [RCV002557278]|not provided [RCV001858995] Chr5:150073440 [GRCh38]
Chr5:149453003 [GRCh37]
Chr5:5q32
benign|likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001249332]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003152755]|not provided [RCV001577379] Chr5:150061584 [GRCh38]
Chr5:149441147 [GRCh37]
Chr5:5q32
pathogenic|likely pathogenic|not provided
NM_001288705.3(CSF1R):c.*530C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157074] Chr5:150053539 [GRCh38]
Chr5:149433102 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157283]|not provided [RCV002557343] Chr5:150070281 [GRCh38]
Chr5:149449844 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.*56G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001154673] Chr5:150054013 [GRCh38]
Chr5:149433576 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1728G>A (p.Glu576=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001152969] Chr5:150061748 [GRCh38]
Chr5:149441311 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.354C>T (p.Phe118=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001153081] Chr5:150080290 [GRCh38]
Chr5:149459853 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001153082] Chr5:150080307 [GRCh38]
Chr5:149459870 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2763+7G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155504] Chr5:150054315 [GRCh38]
Chr5:149433878 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*768T>G single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001154548] Chr5:150053301 [GRCh38]
Chr5:149432864 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001155613]|not provided [RCV002070911] Chr5:150068281 [GRCh38]
Chr5:149447844 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.-2C>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001157392] Chr5:150086429 [GRCh38]
Chr5:149465992 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*101T>C single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001154672] Chr5:150053968 [GRCh38]
Chr5:149433531 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.*35_*36delinsTC indel Hereditary diffuse leukoencephalopathy with spheroids [RCV001253216] Chr5:150054033..150054034 [GRCh38]
Chr5:149433596..149433597 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001253704] Chr5:150056063 [GRCh38]
Chr5:149435626 [GRCh37]
Chr5:5q32
uncertain significance
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3
pathogenic
NM_001288705.3(CSF1R):c.1969+1G>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001257140] Chr5:150060861 [GRCh38]
Chr5:149440424 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001261535] Chr5:150061577 [GRCh38]
Chr5:149441140 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001808002] Chr5:150060933 [GRCh38]
Chr5:149440496 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1198+19C>A single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001333367] Chr5:150070437 [GRCh38]
Chr5:149450000 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2554+3G>A single nucleotide variant not provided [RCV001579742] Chr5:150056023 [GRCh38]
Chr5:149435586 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002293254] Chr5:150061827 [GRCh38]
Chr5:149441390 [GRCh37]
Chr5:5q32
pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.1930G>A (p.Glu644Lys) single nucleotide variant not provided [RCV001372166] Chr5:150060901 [GRCh38]
Chr5:149440464 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001331371] Chr5:150068221 [GRCh38]
Chr5:149447784 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1700C>T (p.Thr567Met) single nucleotide variant not provided [RCV001367470] Chr5:150061776 [GRCh38]
Chr5:149441339 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1974T>C (p.Pro658=) single nucleotide variant not provided [RCV001310529] Chr5:150059858 [GRCh38]
Chr5:149439421 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.945G>A (p.Val315=) single nucleotide variant not provided [RCV001486985] Chr5:150073438 [GRCh38]
Chr5:149453001 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.593-13C>T single nucleotide variant not provided [RCV001442961] Chr5:150078261 [GRCh38]
Chr5:149457824 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1083-124C>T single nucleotide variant not provided [RCV001685872] Chr5:150070695 [GRCh38]
Chr5:149450258 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.93C>T (p.Val31=) single nucleotide variant not provided [RCV001515107] Chr5:150080981 [GRCh38]
Chr5:149460544 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.729+182T>C single nucleotide variant not provided [RCV001696350] Chr5:150077930 [GRCh38]
Chr5:149457493 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) single nucleotide variant not provided [RCV001579959] Chr5:150060918 [GRCh38]
Chr5:149440481 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2763+28G>C single nucleotide variant not provided [RCV001674983] Chr5:150054294 [GRCh38]
Chr5:149433857 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.593-19G>A single nucleotide variant not provided [RCV001519581] Chr5:150078267 [GRCh38]
Chr5:149457830 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1872T>G (p.Ala624=) single nucleotide variant not provided [RCV001521499] Chr5:150060959 [GRCh38]
Chr5:149440522 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV002247770] Chr5:150077276 [GRCh38]
Chr5:149456839 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001728045]|not provided [RCV002539778] Chr5:150055328 [GRCh38]
Chr5:149434891 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.2343G>A (p.Ala781=) single nucleotide variant not provided [RCV003105097] Chr5:150056318 [GRCh38]
Chr5:149435881 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2026C>T (p.Arg676Ter) single nucleotide variant not provided [RCV001780583] Chr5:150059806 [GRCh38]
Chr5:149439369 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.840del (p.Ser281fs) deletion not provided [RCV001780884] Chr5:150077325 [GRCh38]
Chr5:149456888 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2485G>C (p.Asp829His) single nucleotide variant not provided [RCV001767365] Chr5:150056095 [GRCh38]
Chr5:149435658 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.92T>A (p.Val31Asp) single nucleotide variant not provided [RCV001767213] Chr5:150080982 [GRCh38]
Chr5:149460545 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2567A>C (p.Tyr856Ser) single nucleotide variant not provided [RCV001772800] Chr5:150055324 [GRCh38]
Chr5:149434887 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2912T>A (p.Phe971Tyr) single nucleotide variant not provided [RCV001772999] Chr5:150054076 [GRCh38]
Chr5:149433639 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter) single nucleotide variant not provided [RCV001780885] Chr5:150077337 [GRCh38]
Chr5:149456900 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.631G>A (p.Glu211Lys) single nucleotide variant not provided [RCV001765651] Chr5:150078210 [GRCh38]
Chr5:149457773 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.716ACA[2] (p.Asn241del) microsatellite not provided [RCV001756964] Chr5:150078117..150078119 [GRCh38]
Chr5:149457680..149457682 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1939_1941del (p.Val647del) deletion not provided [RCV001816409] Chr5:150060890..150060892 [GRCh38]
Chr5:149440453..149440455 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2654+12G>T single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001795607]|not provided [RCV001885225] Chr5:150055225 [GRCh38]
Chr5:149434788 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.819C>T (p.Ala273=) single nucleotide variant not provided [RCV001795672] Chr5:150077346 [GRCh38]
Chr5:149456909 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1626+13G>A single nucleotide variant not provided [RCV001795677] Chr5:150068202 [GRCh38]
Chr5:149447765 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.1510+16C>T single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002478026]|not provided [RCV001795679] Chr5:150069857 [GRCh38]
Chr5:149449420 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly) single nucleotide variant not provided [RCV001795700] Chr5:150078137 [GRCh38]
Chr5:149457700 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2677T>C (p.Trp893Arg) single nucleotide variant not provided [RCV001758206] Chr5:150054408 [GRCh38]
Chr5:149433971 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2442+5G>A single nucleotide variant not provided [RCV001804187] Chr5:150056214 [GRCh38]
Chr5:149435777 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1865C>T (p.Ala622Val) single nucleotide variant not provided [RCV001929716] Chr5:150060966 [GRCh38]
Chr5:149440529 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2539G>C (p.Glu847Gln) single nucleotide variant not provided [RCV002025919] Chr5:150056041 [GRCh38]
Chr5:149435604 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001837352] Chr5:150080234 [GRCh38]
Chr5:149459797 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1795G>C (p.Ala599Pro) single nucleotide variant not provided [RCV002040583] Chr5:150061554 [GRCh38]
Chr5:149441117 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002484551]|not provided [RCV001914442] Chr5:150059759 [GRCh38]
Chr5:149439322 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.592+3G>A single nucleotide variant not provided [RCV002008598] Chr5:150080049 [GRCh38]
Chr5:149459612 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1510+5G>C single nucleotide variant not provided [RCV002008954] Chr5:150069868 [GRCh38]
Chr5:149449431 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.946G>C (p.Gly316Arg) single nucleotide variant not provided [RCV001987257] Chr5:150073437 [GRCh38]
Chr5:149453000 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1083-18C>G single nucleotide variant not provided [RCV001929802] Chr5:150070589 [GRCh38]
Chr5:149450152 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.49+16G>T single nucleotide variant not provided [RCV001970720] Chr5:150086363 [GRCh38]
Chr5:149465926 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2539G>A (p.Glu847Lys) single nucleotide variant not provided [RCV001949461] Chr5:150056041 [GRCh38]
Chr5:149435604 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.344T>C (p.Val115Ala) single nucleotide variant not provided [RCV002044660] Chr5:150080300 [GRCh38]
Chr5:149459863 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.200G>A (p.Ser67Asn) single nucleotide variant not provided [RCV002003354] Chr5:150080874 [GRCh38]
Chr5:149460437 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2007C>T (p.Gly669=) single nucleotide variant not provided [RCV001969189] Chr5:150059825 [GRCh38]
Chr5:149439388 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) single nucleotide variant not provided [RCV002039941] Chr5:150056269 [GRCh38]
Chr5:149435832 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.1729T>A (p.Phe577Ile) single nucleotide variant not provided [RCV001910670] Chr5:150061747 [GRCh38]
Chr5:149441310 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1859C>T (p.Ser620Phe) single nucleotide variant not provided [RCV001890181] Chr5:150060972 [GRCh38]
Chr5:149440535 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1561G>A (p.Ala521Thr) single nucleotide variant not provided [RCV001871364] Chr5:150068280 [GRCh38]
Chr5:149447843 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.356A>G (p.Glu119Gly) single nucleotide variant not provided [RCV001984187] Chr5:150080288 [GRCh38]
Chr5:149459851 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1541T>A (p.Leu514His) single nucleotide variant not provided [RCV001893936] Chr5:150068300 [GRCh38]
Chr5:149447863 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.448C>T (p.Arg150Cys) single nucleotide variant not provided [RCV002043555] Chr5:150080196 [GRCh38]
Chr5:149459759 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.807T>A (p.Asp269Glu) single nucleotide variant not provided [RCV001945342] Chr5:150077358 [GRCh38]
Chr5:149456921 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) single nucleotide variant Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002468654]|not provided [RCV002040804] Chr5:150060870 [GRCh38]
Chr5:149440433 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.431G>A (p.Arg144His) single nucleotide variant not provided [RCV001872238] Chr5:150080213 [GRCh38]
Chr5:149459776 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV001912221] Chr5:150080826 [GRCh38]
Chr5:149460389 [GRCh37]
Chr5:5q32
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del) deletion not provided [RCV002021046] Chr5:150054183..150054203 [GRCh38]
Chr5:149433746..149433766 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1488G>T (p.Trp496Cys) single nucleotide variant not provided [RCV001965920] Chr5:150069895 [GRCh38]
Chr5:149449458 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001823037] Chr5:150056113 [GRCh38]
Chr5:149435676 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV001823563] Chr5:150055321 [GRCh38]
Chr5:149434884 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1749G>T (p.Gln583His) single nucleotide variant not provided [RCV001916420] Chr5:150061727 [GRCh38]
Chr5:149441290 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.238G>T (p.Gly80Trp) single nucleotide variant not provided [RCV002038874] Chr5:150080836 [GRCh38]
Chr5:149460399 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1330G>A (p.Ala444Thr) single nucleotide variant not provided [RCV001993867] Chr5:150070053 [GRCh38]
Chr5:149449616 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2627C>A (p.Ala876Asp) single nucleotide variant not provided [RCV001980860] Chr5:150055264 [GRCh38]
Chr5:149434827 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1084C>T (p.His362Tyr) single nucleotide variant not provided [RCV002038107] Chr5:150070570 [GRCh38]
Chr5:149450133 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2808CAG[2] (p.Ser939_Ser940del) microsatellite not provided [RCV002000578] Chr5:150054169..150054174 [GRCh38]
Chr5:149433732..149433737 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.871A>G (p.Met291Val) single nucleotide variant not provided [RCV001888247] Chr5:150077294 [GRCh38]
Chr5:149456857 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2210_2212del (p.Phe737del) deletion not provided [RCV001943406] Chr5:150057513..150057515 [GRCh38]
Chr5:149437076..149437078 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1399A>G (p.Thr467Ala) single nucleotide variant not provided [RCV001898608] Chr5:150069984 [GRCh38]
Chr5:149449547 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1084_1085inv (p.His362Cys) inversion not provided [RCV001865065] Chr5:150070569..150070570 [GRCh38]
Chr5:149450132..149450133 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.629C>A (p.Ala210Glu) single nucleotide variant not provided [RCV001937909] Chr5:150078212 [GRCh38]
Chr5:149457775 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1555G>C (p.Val519Leu) single nucleotide variant not provided [RCV001943545] Chr5:150068286 [GRCh38]
Chr5:149447849 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.730-5T>G single nucleotide variant not provided [RCV001998390] Chr5:150077440 [GRCh38]
Chr5:149457003 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.880C>T (p.Arg294Trp) single nucleotide variant not provided [RCV002035805] Chr5:150077285 [GRCh38]
Chr5:149456848 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.643A>G (p.Ile215Val) single nucleotide variant not provided [RCV001925947] Chr5:150078198 [GRCh38]
Chr5:149457761 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2806_2814dup (p.Gly936_Ser938dup) duplication not provided [RCV001940538] Chr5:150054173..150054174 [GRCh38]
Chr5:149433736..149433737 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.158C>T (p.Pro53Leu) single nucleotide variant not provided [RCV001899056] Chr5:150080916 [GRCh38]
Chr5:149460479 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2615G>T (p.Gly872Val) single nucleotide variant not provided [RCV001975485] Chr5:150055276 [GRCh38]
Chr5:149434839 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2800GGCAGC[3] (p.934GS[3]) microsatellite not provided [RCV001937620] Chr5:150054176..150054177 [GRCh38]
Chr5:149433739..149433740 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.592+4C>T single nucleotide variant not provided [RCV001996323] Chr5:150080048 [GRCh38]
Chr5:149459611 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2180G>A (p.Arg727Lys) single nucleotide variant not provided [RCV002049458] Chr5:150057545 [GRCh38]
Chr5:149437108 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1662G>T (p.Glu554Asp) single nucleotide variant not provided [RCV002013109] Chr5:150061814 [GRCh38]
Chr5:149441377 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.253A>T (p.Thr85Ser) single nucleotide variant not provided [RCV001952165] Chr5:150080821 [GRCh38]
Chr5:149460384 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2137A>G (p.Ser713Gly) single nucleotide variant not provided [RCV001901122] Chr5:150057588 [GRCh38]
Chr5:149437151 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1126G>A (p.Ala376Thr) single nucleotide variant not provided [RCV001917064] Chr5:150070528 [GRCh38]
Chr5:149450091 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2843G>C (p.Ser948Thr) single nucleotide variant not provided [RCV001973328] Chr5:150054145 [GRCh38]
Chr5:149433708 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.550A>G (p.Arg184Gly) single nucleotide variant not provided [RCV001870039] Chr5:150080094 [GRCh38]
Chr5:149459657 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.412G>A (p.Val138Ile) single nucleotide variant not provided [RCV001973684] Chr5:150080232 [GRCh38]
Chr5:149459795 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002579587]|not provided [RCV001996016] Chr5:150061831 [GRCh38]
Chr5:149441394 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys) single nucleotide variant not provided [RCV001933289] Chr5:150073459 [GRCh38]
Chr5:149453022 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.196A>G (p.Ser66Gly) single nucleotide variant not provided [RCV002030265] Chr5:150080878 [GRCh38]
Chr5:149460441 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1284C>A (p.Asn428Lys) single nucleotide variant not provided [RCV002050206] Chr5:150070217 [GRCh38]
Chr5:149449780 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2392G>C (p.Gly798Arg) single nucleotide variant not provided [RCV001877122] Chr5:150056269 [GRCh38]
Chr5:149435832 [GRCh37]
Chr5:5q32
likely pathogenic|uncertain significance
NM_001288705.3(CSF1R):c.2092G>A (p.Asp698Asn) single nucleotide variant not provided [RCV001981710] Chr5:150059740 [GRCh38]
Chr5:149439303 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1876G>T (p.Glu626Ter) single nucleotide variant not provided [RCV001999002] Chr5:150060955 [GRCh38]
Chr5:149440518 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.161dup (p.Ser55fs) duplication not provided [RCV001876787] Chr5:150080912..150080913 [GRCh38]
Chr5:149460475..149460476 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.331C>A (p.Leu111Ile) single nucleotide variant not provided [RCV002036395] Chr5:150080313 [GRCh38]
Chr5:149459876 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2827GAG[2] (p.Glu945del) microsatellite not provided [RCV001866646] Chr5:150054153..150054155 [GRCh38]
Chr5:149433716..149433718 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV001955191] Chr5:150080069 [GRCh38]
Chr5:149459632 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1100_1103del (p.Ser367fs) microsatellite not provided [RCV001980410] Chr5:150070551..150070554 [GRCh38]
Chr5:149450114..149450117 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1276del (p.Gln426fs) deletion not provided [RCV001981628] Chr5:150070225 [GRCh38]
Chr5:149449788 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2442+2dup duplication not provided [RCV001974459] Chr5:150056216..150056217 [GRCh38]
Chr5:149435779..149435780 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2370_2377del (p.His790fs) deletion not provided [RCV002012996] Chr5:150056284..150056291 [GRCh38]
Chr5:149435847..149435854 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1484C>T (p.Ser495Phe) single nucleotide variant not provided [RCV002015870] Chr5:150069899 [GRCh38]
Chr5:149449462 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.307+3G>T single nucleotide variant not provided [RCV002017511] Chr5:150080764 [GRCh38]
Chr5:149460327 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2174A>G (p.Glu725Gly) single nucleotide variant not provided [RCV001883700] Chr5:150057551 [GRCh38]
Chr5:149437114 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.158C>A (p.Pro53His) single nucleotide variant not provided [RCV001902413] Chr5:150080916 [GRCh38]
Chr5:149460479 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002497904]|not provided [RCV001959331] Chr5:150078185 [GRCh38]
Chr5:149457748 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.948G>T (p.Gly316=) single nucleotide variant not provided [RCV001981778] Chr5:150073435 [GRCh38]
Chr5:149452998 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.358G>A (p.Asp120Asn) single nucleotide variant not provided [RCV001924290] Chr5:150080286 [GRCh38]
Chr5:149459849 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2363A>G (p.Asn788Ser) single nucleotide variant not provided [RCV001907030] Chr5:150056298 [GRCh38]
Chr5:149435861 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1480G>A (p.Gly494Ser) single nucleotide variant not provided [RCV001886280] Chr5:150069903 [GRCh38]
Chr5:149449466 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.533G>A (p.Ser178Asn) single nucleotide variant not provided [RCV002028845] Chr5:150080111 [GRCh38]
Chr5:149459674 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser) single nucleotide variant Inborn genetic diseases [RCV002642187]|not provided [RCV002029046] Chr5:150070218 [GRCh38]
Chr5:149449781 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2188T>C (p.Ser730Pro) single nucleotide variant not provided [RCV001878263] Chr5:150057537 [GRCh38]
Chr5:149437100 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.187G>C (p.Asp63His) single nucleotide variant not provided [RCV001934043] Chr5:150080887 [GRCh38]
Chr5:149460450 [GRCh37]
Chr5:5q32
benign|uncertain significance
NM_001288705.3(CSF1R):c.2866C>T (p.Gln956Ter) single nucleotide variant not provided [RCV001916107] Chr5:150054122 [GRCh38]
Chr5:149433685 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2533C>T (p.Leu845Phe) single nucleotide variant not provided [RCV002029295] Chr5:150056047 [GRCh38]
Chr5:149435610 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2808CAG[6] (p.Ser939_Ser940dup) microsatellite not provided [RCV001956944] Chr5:150054168..150054169 [GRCh38]
Chr5:149433731..149433732 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly) single nucleotide variant Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002272513]|not provided [RCV001867588] Chr5:150057546 [GRCh38]
Chr5:149437109 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.61C>T (p.Pro21Ser) single nucleotide variant not provided [RCV001919088] Chr5:150081013 [GRCh38]
Chr5:149460576 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1654ATC[1] (p.Ile553del) microsatellite not provided [RCV001881778] Chr5:150061817..150061819 [GRCh38]
Chr5:149441380..149441382 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.267C>T (p.Asp89=) single nucleotide variant not provided [RCV002108279] Chr5:150080807 [GRCh38]
Chr5:149460370 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2529C>T (p.Ile843=) single nucleotide variant not provided [RCV002188837] Chr5:150056051 [GRCh38]
Chr5:149435614 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2555-9C>T single nucleotide variant not provided [RCV002110183] Chr5:150055345 [GRCh38]
Chr5:149434908 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.796G>A (p.Asp266Asn) single nucleotide variant Inborn genetic diseases [RCV003007041]|not provided [RCV002090497] Chr5:150077369 [GRCh38]
Chr5:149456932 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.2316G>A (p.Lys772=) single nucleotide variant not provided [RCV002170062] Chr5:150057290 [GRCh38]
Chr5:149436853 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1983C>T (p.Val661=) single nucleotide variant not provided [RCV002166907] Chr5:150059849 [GRCh38]
Chr5:149439412 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1082+20G>A single nucleotide variant not provided [RCV002125118] Chr5:150073281 [GRCh38]
Chr5:149452844 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1754G>T (p.Gly585Val) single nucleotide variant not provided [RCV002224673] Chr5:150061595 [GRCh38]
Chr5:149441158 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2067C>T (p.Pro689=) single nucleotide variant not provided [RCV002208967] Chr5:150059765 [GRCh38]
Chr5:149439328 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1564T>G (p.Cys522Gly) single nucleotide variant not provided [RCV002224928] Chr5:150068277 [GRCh38]
Chr5:149447840 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1144C>T (p.Leu382=) single nucleotide variant not provided [RCV002090632] Chr5:150070510 [GRCh38]
Chr5:149450073 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+16G>T single nucleotide variant not provided [RCV002144862] Chr5:150070440 [GRCh38]
Chr5:149450003 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1859-18T>C single nucleotide variant not provided [RCV002090027] Chr5:150060990 [GRCh38]
Chr5:149440553 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.544G>T (p.Gly182Cys) single nucleotide variant not provided [RCV002088675] Chr5:150080100 [GRCh38]
Chr5:149459663 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1653G>A (p.Lys551=) single nucleotide variant not provided [RCV002129543] Chr5:150061823 [GRCh38]
Chr5:149441386 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.237G>A (p.Thr79=) single nucleotide variant not provided [RCV002080902] Chr5:150080837 [GRCh38]
Chr5:149460400 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.327C>T (p.Asn109=) single nucleotide variant not provided [RCV002094913] Chr5:150080317 [GRCh38]
Chr5:149459880 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2806G>A (p.Gly936Ser) single nucleotide variant not provided [RCV002195077] Chr5:150054182 [GRCh38]
Chr5:149433745 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) single nucleotide variant not provided [RCV002214913] Chr5:150080964 [GRCh38]
Chr5:149460527 [GRCh37]
Chr5:5q32
benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.2133-20dup duplication not provided [RCV002116028] Chr5:150057611..150057612 [GRCh38]
Chr5:149437174..149437175 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1083-12TC[2] microsatellite not provided [RCV002080255] Chr5:150070578..150070579 [GRCh38]
Chr5:149450141..149450142 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1082+19C>T single nucleotide variant not provided [RCV002189265] Chr5:150073282 [GRCh38]
Chr5:149452845 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2132+2T>C single nucleotide variant not provided [RCV002224863] Chr5:150059698 [GRCh38]
Chr5:149439261 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.1965T>C (p.His655=) single nucleotide variant not provided [RCV002216209] Chr5:150060866 [GRCh38]
Chr5:149440429 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.685G>A (p.Val229Ile) single nucleotide variant not provided [RCV002080636] Chr5:150078156 [GRCh38]
Chr5:149457719 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1722G>A (p.Lys574=) single nucleotide variant not provided [RCV002117292] Chr5:150061754 [GRCh38]
Chr5:149441317 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1754-13G>A single nucleotide variant not provided [RCV002115656] Chr5:150061608 [GRCh38]
Chr5:149441171 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.730-16T>C single nucleotide variant not provided [RCV002071734] Chr5:150077451 [GRCh38]
Chr5:149457014 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.846C>T (p.Asn282=) single nucleotide variant not provided [RCV002112057] Chr5:150077319 [GRCh38]
Chr5:149456882 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2253G>A (p.Glu751=) single nucleotide variant not provided [RCV002096551] Chr5:150057353 [GRCh38]
Chr5:149436916 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1317T>C (p.Asp439=) single nucleotide variant not provided [RCV002211955] Chr5:150070184 [GRCh38]
Chr5:149449747 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.375G>A (p.Leu125=) single nucleotide variant not provided [RCV002093442] Chr5:150080269 [GRCh38]
Chr5:149459832 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2654+20G>A single nucleotide variant not provided [RCV002194329] Chr5:150055217 [GRCh38]
Chr5:149434780 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1617G>A (p.Lys539=) single nucleotide variant not provided [RCV002197364] Chr5:150068224 [GRCh38]
Chr5:149447787 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1199-10_1199-7dup duplication not provided [RCV002077761] Chr5:150070308..150070309 [GRCh38]
Chr5:149449871..149449872 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu) single nucleotide variant not provided [RCV002212830] Chr5:150080174 [GRCh38]
Chr5:149459737 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1400C>T (p.Thr467Met) single nucleotide variant not provided [RCV002105424] Chr5:150069983 [GRCh38]
Chr5:149449546 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.93C>A (p.Val31=) single nucleotide variant not provided [RCV002080015] Chr5:150080981 [GRCh38]
Chr5:149460544 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1698C>T (p.Pro566=) single nucleotide variant not provided [RCV002085776] Chr5:150061778 [GRCh38]
Chr5:149441341 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1692C>T (p.Ile564=) single nucleotide variant not provided [RCV002186274] Chr5:150061784 [GRCh38]
Chr5:149441347 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2874T>C (p.Asp958=) single nucleotide variant not provided [RCV002190894] Chr5:150054114 [GRCh38]
Chr5:149433677 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1517A>C (p.His506Pro) single nucleotide variant not provided [RCV002170735] Chr5:150068324 [GRCh38]
Chr5:149447887 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1236C>T (p.Asn412=) single nucleotide variant not provided [RCV002189741] Chr5:150070265 [GRCh38]
Chr5:149449828 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2706C>G (p.Thr902=) single nucleotide variant not provided [RCV002133661] Chr5:150054379 [GRCh38]
Chr5:149433942 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) single nucleotide variant not provided [RCV002214022] Chr5:150060946 [GRCh38]
Chr5:149440509 [GRCh37]
Chr5:5q32
likely benign|conflicting interpretations of pathogenicity
NM_001288705.3(CSF1R):c.2784C>T (p.Ser928=) single nucleotide variant not provided [RCV002209720] Chr5:150054204 [GRCh38]
Chr5:149433767 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2221+13C>T single nucleotide variant not provided [RCV002193550] Chr5:150057491 [GRCh38]
Chr5:149437054 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1800G>A (p.Thr600=) single nucleotide variant not provided [RCV002077626] Chr5:150061549 [GRCh38]
Chr5:149441112 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+16G>A single nucleotide variant not provided [RCV002131987] Chr5:150070440 [GRCh38]
Chr5:149450003 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1659C>T (p.Ile553=) single nucleotide variant not provided [RCV002095803] Chr5:150061817 [GRCh38]
Chr5:149441380 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.307+12G>A single nucleotide variant not provided [RCV002146559] Chr5:150080755 [GRCh38]
Chr5:149460318 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.94G>A (p.Val32Met) single nucleotide variant not provided [RCV002133914] Chr5:150080980 [GRCh38]
Chr5:149460543 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002498094]|not provided [RCV002092059] Chr5:150060893 [GRCh38]
Chr5:149440456 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.87G>A (p.Glu29=) single nucleotide variant not provided [RCV002076903] Chr5:150080987 [GRCh38]
Chr5:149460550 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.592+20C>T single nucleotide variant not provided [RCV002077426] Chr5:150080032 [GRCh38]
Chr5:149459595 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2436G>A (p.Lys812=) single nucleotide variant not provided [RCV002151499] Chr5:150056225 [GRCh38]
Chr5:149435788 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2307C>T (p.Leu769=) single nucleotide variant not provided [RCV002199503] Chr5:150057299 [GRCh38]
Chr5:149436862 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.21G>T (p.Leu7=) single nucleotide variant not provided [RCV002154134] Chr5:150086407 [GRCh38]
Chr5:149465970 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.729+13A>G single nucleotide variant not provided [RCV002154353] Chr5:150078099 [GRCh38]
Chr5:149457662 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2654+7G>A single nucleotide variant not provided [RCV002139262] Chr5:150055230 [GRCh38]
Chr5:149434793 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.489C>A (p.Thr163=) single nucleotide variant not provided [RCV002160221] Chr5:150080155 [GRCh38]
Chr5:149459718 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1284C>T (p.Asn428=) single nucleotide variant not provided [RCV002163476] Chr5:150070217 [GRCh38]
Chr5:149449780 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.759T>C (p.His253=) single nucleotide variant not provided [RCV002120038] Chr5:150077406 [GRCh38]
Chr5:149456969 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2320-20C>T single nucleotide variant not provided [RCV002163837] Chr5:150056361 [GRCh38]
Chr5:149435924 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.317G>A (p.Arg106Gln) single nucleotide variant Inborn genetic diseases [RCV002552987]|not provided [RCV002156908] Chr5:150080327 [GRCh38]
Chr5:149459890 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1119C>T (p.Pro373=) single nucleotide variant not provided [RCV002201107] Chr5:150070535 [GRCh38]
Chr5:149450098 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.49+13C>T single nucleotide variant not provided [RCV002164551] Chr5:150086366 [GRCh38]
Chr5:149465929 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2132+9T>C single nucleotide variant not provided [RCV002099597] Chr5:150059691 [GRCh38]
Chr5:149439254 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1869T>C (p.His623=) single nucleotide variant not provided [RCV002201693] Chr5:150060962 [GRCh38]
Chr5:149440525 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2742C>T (p.Ala914=) single nucleotide variant not provided [RCV002102217] Chr5:150054343 [GRCh38]
Chr5:149433906 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1449C>T (p.Tyr483=) single nucleotide variant not provided [RCV002135962] Chr5:150069934 [GRCh38]
Chr5:149449497 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2855C>T (p.Thr952Ile) single nucleotide variant not provided [RCV002219085] Chr5:150054133 [GRCh38]
Chr5:149433696 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+12G>A single nucleotide variant not provided [RCV002102264] Chr5:150070444 [GRCh38]
Chr5:149450007 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.942C>T (p.Thr314=) single nucleotide variant not provided [RCV002158234] Chr5:150073441 [GRCh38]
Chr5:149453004 [GRCh37]
Chr5:5q32
benign|likely benign
NM_001288705.3(CSF1R):c.314C>T (p.Ala105Val) single nucleotide variant not provided [RCV002103955] Chr5:150080330 [GRCh38]
Chr5:149459893 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1083-7C>T single nucleotide variant not provided [RCV002143088] Chr5:150070578 [GRCh38]
Chr5:149450141 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+19C>T single nucleotide variant not provided [RCV002139829] Chr5:150070437 [GRCh38]
Chr5:149450000 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.666C>T (p.Ile222=) single nucleotide variant not provided [RCV002217606] Chr5:150078175 [GRCh38]
Chr5:149457738 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1858+20G>A single nucleotide variant not provided [RCV002202494] Chr5:150061471 [GRCh38]
Chr5:149441034 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1563C>T (p.Ala521=) single nucleotide variant not provided [RCV002178518] Chr5:150068278 [GRCh38]
Chr5:149447841 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.366C>T (p.Asp122=) single nucleotide variant not provided [RCV002200956] Chr5:150080278 [GRCh38]
Chr5:149459841 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.993G>A (p.Leu331=) single nucleotide variant not provided [RCV002099309] Chr5:150073390 [GRCh38]
Chr5:149452953 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.49+18G>C single nucleotide variant not provided [RCV002162191] Chr5:150086361 [GRCh38]
Chr5:149465924 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.592+20C>A single nucleotide variant not provided [RCV002154920] Chr5:150080032 [GRCh38]
Chr5:149459595 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1428C>T (p.Thr476=) single nucleotide variant not provided [RCV002141980] Chr5:150069955 [GRCh38]
Chr5:149449518 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.50-20C>T single nucleotide variant not provided [RCV002176604] Chr5:150081044 [GRCh38]
Chr5:149460607 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2442+15G>A single nucleotide variant not provided [RCV002140279] Chr5:150056204 [GRCh38]
Chr5:149435767 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1149C>T (p.Ala383=) single nucleotide variant not provided [RCV002119058] Chr5:150070505 [GRCh38]
Chr5:149450068 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2579T>C (p.Leu860Pro) single nucleotide variant not provided [RCV003109946] Chr5:150055312 [GRCh38]
Chr5:149434875 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2858G>A (p.Cys953Tyr) single nucleotide variant not provided [RCV003118224] Chr5:150054130 [GRCh38]
Chr5:149433693 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1404_1421dup (p.Val474_Glu475insGlnSerLeuLeuThrVal) duplication not provided [RCV003115327] Chr5:150069961..150069962 [GRCh38]
Chr5:149449524..149449525 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1754-7G>A single nucleotide variant not provided [RCV003114793] Chr5:150061602 [GRCh38]
Chr5:149441165 [GRCh37]
Chr5:5q32
likely benign
NC_000005.9:g.(?_147774340)_(149681936_?)del deletion not provided [RCV003116332] Chr5:147774340..149681936 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2522A>G (p.Tyr841Cys) single nucleotide variant not provided [RCV003112183] Chr5:150056058 [GRCh38]
Chr5:149435621 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) single nucleotide variant Hereditary diffuse leukoencephalopathy with spheroids [RCV002249843] Chr5:150056082 [GRCh38]
Chr5:149435645 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn) single nucleotide variant Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002288456] Chr5:150057504 [GRCh38]
Chr5:149437067 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.2545T>G (p.Phe849Val) single nucleotide variant not provided [RCV002297533] Chr5:150056035 [GRCh38]
Chr5:149435598 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.69dup (p.Glu24fs) duplication Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003150922] Chr5:150081004..150081005 [GRCh38]
Chr5:149460567..149460568 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.473C>T (p.Pro158Leu) single nucleotide variant Inborn genetic diseases [RCV003299437] Chr5:150080171 [GRCh38]
Chr5:149459734 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1033C>T (p.His345Tyr) single nucleotide variant not provided [RCV002303421] Chr5:150073350 [GRCh38]
Chr5:149452913 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1520C>A (p.Thr507Lys) single nucleotide variant not provided [RCV002297854] Chr5:150068321 [GRCh38]
Chr5:149447884 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.997G>C (p.Gly333Arg) single nucleotide variant not provided [RCV002303856] Chr5:150073386 [GRCh38]
Chr5:149452949 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.668T>G (p.Val223Gly) single nucleotide variant not provided [RCV002304048] Chr5:150078173 [GRCh38]
Chr5:149457736 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1970G>A (p.Gly657Asp) single nucleotide variant not provided [RCV002301846] Chr5:150059862 [GRCh38]
Chr5:149439425 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1037A>G (p.Gln346Arg) single nucleotide variant not provided [RCV002299983] Chr5:150073346 [GRCh38]
Chr5:149452909 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.592+5G>A single nucleotide variant not provided [RCV002306085] Chr5:150080047 [GRCh38]
Chr5:149459610 [GRCh37]
Chr5:5q32
conflicting interpretations of pathogenicity|uncertain significance
NM_001288705.3(CSF1R):c.919C>G (p.Gln307Glu) single nucleotide variant not provided [RCV002295732] Chr5:150073464 [GRCh38]
Chr5:149453027 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2614G>A (p.Gly872Arg) single nucleotide variant not provided [RCV002994032] Chr5:150055277 [GRCh38]
Chr5:149434840 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1970-20del deletion not provided [RCV003015019] Chr5:150059882 [GRCh38]
Chr5:149439445 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu) single nucleotide variant Inborn genetic diseases [RCV002775223]|not provided [RCV002742015] Chr5:150054208 [GRCh38]
Chr5:149433771 [GRCh37]
Chr5:5q32
likely benign|uncertain significance
NM_001288705.3(CSF1R):c.1981G>A (p.Val661Ile) single nucleotide variant not provided [RCV002727353] Chr5:150059851 [GRCh38]
Chr5:149439414 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1883A>C (p.Glu628Ala) single nucleotide variant not provided [RCV002771597] Chr5:150060948 [GRCh38]
Chr5:149440511 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1511-8C>A single nucleotide variant not provided [RCV002613880] Chr5:150068338 [GRCh38]
Chr5:149447901 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1470C>T (p.Ser490=) single nucleotide variant not provided [RCV002795081] Chr5:150069913 [GRCh38]
Chr5:149449476 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1511-6T>C single nucleotide variant not provided [RCV002730313] Chr5:150068336 [GRCh38]
Chr5:149447899 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.458A>G (p.Asn153Ser) single nucleotide variant Inborn genetic diseases [RCV002997167] Chr5:150080186 [GRCh38]
Chr5:149459749 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.307+8G>A single nucleotide variant not provided [RCV002617285] Chr5:150080759 [GRCh38]
Chr5:149460322 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.542T>G (p.Met181Arg) single nucleotide variant not provided [RCV003032907] Chr5:150080102 [GRCh38]
Chr5:149459665 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.834C>A (p.Cys278Ter) single nucleotide variant not provided [RCV002880295] Chr5:150077331 [GRCh38]
Chr5:149456894 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1693G>A (p.Asp565Asn) single nucleotide variant not provided [RCV003074931] Chr5:150061783 [GRCh38]
Chr5:149441346 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2169T>C (p.Tyr723=) single nucleotide variant not provided [RCV002774967] Chr5:150057556 [GRCh38]
Chr5:149437119 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.308-12C>T single nucleotide variant not provided [RCV002996349] Chr5:150080348 [GRCh38]
Chr5:149459911 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter) single nucleotide variant not provided [RCV002637360] Chr5:150060907 [GRCh38]
Chr5:149440470 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.462C>T (p.Tyr154=) single nucleotide variant not provided [RCV002927733] Chr5:150080182 [GRCh38]
Chr5:149459745 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.698T>A (p.Phe233Tyr) single nucleotide variant not provided [RCV003039587] Chr5:150078143 [GRCh38]
Chr5:149457706 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.222T>C (p.Ala74=) single nucleotide variant not provided [RCV002871372] Chr5:150080852 [GRCh38]
Chr5:149460415 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2778G>A (p.Leu926=) single nucleotide variant not provided [RCV003003308] Chr5:150054210 [GRCh38]
Chr5:149433773 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV003038470] Chr5:150080189 [GRCh38]
Chr5:149459752 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1975G>A (p.Val659Ile) single nucleotide variant not provided [RCV003003114] Chr5:150059857 [GRCh38]
Chr5:149439420 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2244G>C (p.Arg748=) single nucleotide variant not provided [RCV002636364] Chr5:150057362 [GRCh38]
Chr5:149436925 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2446C>T (p.Arg816Cys) single nucleotide variant not provided [RCV002663028] Chr5:150056134 [GRCh38]
Chr5:149435697 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.471G>A (p.Ser157=) single nucleotide variant not provided [RCV002590444] Chr5:150080173 [GRCh38]
Chr5:149459736 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2208C>T (p.Ser736=) single nucleotide variant not provided [RCV002619195] Chr5:150057517 [GRCh38]
Chr5:149437080 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1190C>T (p.Thr397Ile) single nucleotide variant not provided [RCV002706201] Chr5:150070464 [GRCh38]
Chr5:149450027 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1199-20CCT[2] microsatellite not provided [RCV002691156] Chr5:150070314..150070316 [GRCh38]
Chr5:149449877..149449879 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV002591126] Chr5:150081002 [GRCh38]
Chr5:149460565 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2555-20C>T single nucleotide variant not provided [RCV002636353] Chr5:150055356 [GRCh38]
Chr5:149434919 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.945G>C (p.Val315=) single nucleotide variant not provided [RCV002736370] Chr5:150073438 [GRCh38]
Chr5:149453001 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1030_1031delinsTT (p.Asp344Phe) indel not provided [RCV002636357] Chr5:150073352..150073353 [GRCh38]
Chr5:149452915..149452916 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2222-12T>C single nucleotide variant not provided [RCV002622482] Chr5:150057396 [GRCh38]
Chr5:149436959 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2692A>G (p.Thr898Ala) single nucleotide variant not provided [RCV002735051] Chr5:150054393 [GRCh38]
Chr5:149433956 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1178C>T (p.Thr393Met) single nucleotide variant Inborn genetic diseases [RCV002980218] Chr5:150070476 [GRCh38]
Chr5:149450039 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1528C>G (p.Pro510Ala) single nucleotide variant not provided [RCV002591868] Chr5:150068313 [GRCh38]
Chr5:149447876 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1319+20C>T single nucleotide variant not provided [RCV002621999] Chr5:150070162 [GRCh38]
Chr5:149449725 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.24C>T (p.Leu8=) single nucleotide variant not provided [RCV002867405] Chr5:150086404 [GRCh38]
Chr5:149465967 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1479T>G (p.Ser493Arg) single nucleotide variant not provided [RCV002571044] Chr5:150069904 [GRCh38]
Chr5:149449467 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2512G>A (p.Val838Ile) single nucleotide variant not provided [RCV002705686] Chr5:150056068 [GRCh38]
Chr5:149435631 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.111G>A (p.Thr37=) single nucleotide variant not provided [RCV003080637] Chr5:150080963 [GRCh38]
Chr5:149460526 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1435C>A (p.His479Asn) single nucleotide variant Inborn genetic diseases [RCV002911184] Chr5:150069948 [GRCh38]
Chr5:149449511 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.132C>T (p.Gly44=) single nucleotide variant not provided [RCV003081140] Chr5:150080942 [GRCh38]
Chr5:149460505 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly) single nucleotide variant not provided [RCV002639354] Chr5:150073409 [GRCh38]
Chr5:149452972 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2119A>G (p.Lys707Glu) single nucleotide variant not provided [RCV002797093] Chr5:150059713 [GRCh38]
Chr5:149439276 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1701G>T (p.Thr567=) single nucleotide variant not provided [RCV002639462] Chr5:150061775 [GRCh38]
Chr5:149441338 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.847G>A (p.Val283Met) single nucleotide variant not provided [RCV002643429] Chr5:150077318 [GRCh38]
Chr5:149456881 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1512A>G (p.Gly504=) single nucleotide variant not provided [RCV002876811] Chr5:150068329 [GRCh38]
Chr5:149447892 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1510+17G>A single nucleotide variant not provided [RCV002805888] Chr5:150069856 [GRCh38]
Chr5:149449419 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1082+1G>A single nucleotide variant not provided [RCV002745776] Chr5:150073300 [GRCh38]
Chr5:149452863 [GRCh37]
Chr5:5q32
likely pathogenic
NM_001288705.3(CSF1R):c.2195C>T (p.Ser732Phe) single nucleotide variant not provided [RCV002645770] Chr5:150057530 [GRCh38]
Chr5:149437093 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2865G>A (p.Glu955=) single nucleotide variant not provided [RCV002712077] Chr5:150054123 [GRCh38]
Chr5:149433686 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2443-19C>A single nucleotide variant not provided [RCV003056360] Chr5:150056156 [GRCh38]
Chr5:149435719 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1764C>T (p.Leu588=) single nucleotide variant not provided [RCV002574955] Chr5:150061585 [GRCh38]
Chr5:149441148 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.234C>T (p.Asn78=) single nucleotide variant not provided [RCV002595993] Chr5:150080840 [GRCh38]
Chr5:149460403 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1529C>T (p.Pro510Leu) single nucleotide variant not provided [RCV002919176] Chr5:150068312 [GRCh38]
Chr5:149447875 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2475G>A (p.Glu825=) single nucleotide variant not provided [RCV002595453] Chr5:150056105 [GRCh38]
Chr5:149435668 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2222-17G>A single nucleotide variant not provided [RCV002575174] Chr5:150057401 [GRCh38]
Chr5:149436964 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.272T>G (p.Leu91Arg) single nucleotide variant not provided [RCV003024281] Chr5:150080802 [GRCh38]
Chr5:149460365 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2319+3G>A single nucleotide variant not provided [RCV002871698] Chr5:150057284 [GRCh38]
Chr5:149436847 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.142G>A (p.Val48Met) single nucleotide variant not provided [RCV003083606] Chr5:150080932 [GRCh38]
Chr5:149460495 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.223A>G (p.Thr75Ala) single nucleotide variant Inborn genetic diseases [RCV002893544] Chr5:150080851 [GRCh38]
Chr5:149460414 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.958A>G (p.Asn320Asp) single nucleotide variant not provided [RCV003024094] Chr5:150073425 [GRCh38]
Chr5:149452988 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1466A>G (p.Asn489Ser) single nucleotide variant not provided [RCV002914870] Chr5:150069917 [GRCh38]
Chr5:149449480 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.730-18C>T single nucleotide variant not provided [RCV003040049] Chr5:150077453 [GRCh38]
Chr5:149457016 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.308-14C>T single nucleotide variant not provided [RCV002594570] Chr5:150080350 [GRCh38]
Chr5:149459913 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1753+9G>A single nucleotide variant not provided [RCV002918697] Chr5:150061714 [GRCh38]
Chr5:149441277 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.941C>T (p.Thr314Ile) single nucleotide variant not provided [RCV003056234] Chr5:150073442 [GRCh38]
Chr5:149453005 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1196G>A (p.Arg399Gln) single nucleotide variant not provided [RCV003085623] Chr5:150070458 [GRCh38]
Chr5:149450021 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1314T>G (p.Thr438=) single nucleotide variant not provided [RCV002667893] Chr5:150070187 [GRCh38]
Chr5:149449750 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.593-5C>T single nucleotide variant not provided [RCV003042049] Chr5:150078253 [GRCh38]
Chr5:149457816 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1714A>G (p.Asn572Asp) single nucleotide variant Inborn genetic diseases [RCV002915089] Chr5:150061762 [GRCh38]
Chr5:149441325 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2128C>T (p.Arg710Cys) single nucleotide variant Inborn genetic diseases [RCV002594717]|not provided [RCV002603824] Chr5:150059704 [GRCh38]
Chr5:149439267 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.730-10C>T single nucleotide variant not provided [RCV002875887] Chr5:150077445 [GRCh38]
Chr5:149457008 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1594C>T (p.Leu532=) single nucleotide variant not provided [RCV002595545] Chr5:150068247 [GRCh38]
Chr5:149447810 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV002871898] Chr5:150080276 [GRCh38]
Chr5:149459839 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys) single nucleotide variant not provided [RCV003004945] Chr5:150069887 [GRCh38]
Chr5:149449450 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1241C>T (p.Ser414Phe) single nucleotide variant Inborn genetic diseases [RCV002955961] Chr5:150070260 [GRCh38]
Chr5:149449823 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2215G>A (p.Glu739Lys) single nucleotide variant not provided [RCV002642846] Chr5:150057510 [GRCh38]
Chr5:149437073 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2557C>T (p.Leu853=) single nucleotide variant not provided [RCV002596800] Chr5:150055334 [GRCh38]
Chr5:149434897 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+20G>A single nucleotide variant not provided [RCV002594896] Chr5:150070436 [GRCh38]
Chr5:149449999 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.668T>C (p.Val223Ala) single nucleotide variant Inborn genetic diseases [RCV002702709] Chr5:150078173 [GRCh38]
Chr5:149457736 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2203G>A (p.Asp735Asn) single nucleotide variant not provided [RCV002715451] Chr5:150057522 [GRCh38]
Chr5:149437085 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.785C>A (p.Thr262Asn) single nucleotide variant not provided [RCV002721089] Chr5:150077380 [GRCh38]
Chr5:149456943 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.700G>A (p.Asp234Asn) single nucleotide variant not provided [RCV003049079] Chr5:150078141 [GRCh38]
Chr5:149457704 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.705C>A (p.Val235=) single nucleotide variant not provided [RCV002720220] Chr5:150078136 [GRCh38]
Chr5:149457699 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2112C>T (p.Leu704=) single nucleotide variant not provided [RCV002580154] Chr5:150059720 [GRCh38]
Chr5:149439283 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.242_264del (p.Thr81fs) deletion not provided [RCV002937669] Chr5:150080810..150080832 [GRCh38]
Chr5:149460373..149460395 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2508C>A (p.Ser836Arg) single nucleotide variant not provided [RCV003048800] Chr5:150056072 [GRCh38]
Chr5:149435635 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2079C>T (p.Pro693=) single nucleotide variant not provided [RCV002630310] Chr5:150059753 [GRCh38]
Chr5:149439316 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2472A>C (p.Pro824=) single nucleotide variant not provided [RCV003030931] Chr5:150056108 [GRCh38]
Chr5:149435671 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.141C>A (p.Ser47Arg) single nucleotide variant not provided [RCV002631442] Chr5:150080933 [GRCh38]
Chr5:149460496 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp) single nucleotide variant not provided [RCV002922297] Chr5:150057349 [GRCh38]
Chr5:149436912 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1862C>T (p.Thr621Met) single nucleotide variant not provided [RCV002597443] Chr5:150060969 [GRCh38]
Chr5:149440532 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.104G>A (p.Gly35Glu) single nucleotide variant not provided [RCV002581646] Chr5:150080970 [GRCh38]
Chr5:149460533 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1792G>A (p.Glu598Lys) single nucleotide variant not provided [RCV003047124] Chr5:150061557 [GRCh38]
Chr5:149441120 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2133-9C>T single nucleotide variant not provided [RCV003028208] Chr5:150057601 [GRCh38]
Chr5:149437164 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1109G>A (p.Arg370His) single nucleotide variant not provided [RCV002649450] Chr5:150070545 [GRCh38]
Chr5:149450108 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.436C>T (p.Arg146Trp) single nucleotide variant Inborn genetic diseases [RCV002717465] Chr5:150080208 [GRCh38]
Chr5:149459771 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.927C>A (p.Leu309=) single nucleotide variant not provided [RCV002649312] Chr5:150073456 [GRCh38]
Chr5:149453019 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr) single nucleotide variant Inborn genetic diseases [RCV002809718] Chr5:150057298 [GRCh38]
Chr5:149436861 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2797_2817del (p.Gly933_Ser939del) deletion not provided [RCV002832805] Chr5:150054171..150054191 [GRCh38]
Chr5:149433734..149433754 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.122G>A (p.Arg41Gln) single nucleotide variant Inborn genetic diseases [RCV002831198] Chr5:150080952 [GRCh38]
Chr5:149460515 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.141C>T (p.Ser47=) single nucleotide variant not provided [RCV002577000] Chr5:150080933 [GRCh38]
Chr5:149460496 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.25CTG[1] (p.Leu10del) microsatellite not provided [RCV003030923] Chr5:150086398..150086400 [GRCh38]
Chr5:149465961..149465963 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1567A>C (p.Met523Leu) single nucleotide variant Inborn genetic diseases [RCV002702935] Chr5:150068274 [GRCh38]
Chr5:149447837 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.465C>T (p.Ser155=) single nucleotide variant not provided [RCV003028624] Chr5:150080179 [GRCh38]
Chr5:149459742 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.722A>C (p.Asn241Thr) single nucleotide variant not provided [RCV003062133] Chr5:150078119 [GRCh38]
Chr5:149457682 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1970-12T>C single nucleotide variant not provided [RCV002834183] Chr5:150059874 [GRCh38]
Chr5:149439437 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2734G>A (p.Glu912Lys) single nucleotide variant not provided [RCV003031079] Chr5:150054351 [GRCh38]
Chr5:149433914 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2376C>G (p.Ala792=) single nucleotide variant not provided [RCV002900602] Chr5:150056285 [GRCh38]
Chr5:149435848 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1222T>C (p.Trp408Arg) single nucleotide variant not provided [RCV003011285] Chr5:150070279 [GRCh38]
Chr5:149449842 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys) single nucleotide variant Inborn genetic diseases [RCV003010845] Chr5:150054200 [GRCh38]
Chr5:149433763 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2763+17T>C single nucleotide variant not provided [RCV002630452] Chr5:150054305 [GRCh38]
Chr5:149433868 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.592+17G>A single nucleotide variant not provided [RCV002877140] Chr5:150080035 [GRCh38]
Chr5:149459598 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1858+16G>A single nucleotide variant not provided [RCV002597902] Chr5:150061475 [GRCh38]
Chr5:149441038 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.554del (p.Lys185fs) deletion Inborn genetic diseases [RCV002702625] Chr5:150080090 [GRCh38]
Chr5:149459653 [GRCh37]
Chr5:5q32
pathogenic
NM_001288705.3(CSF1R):c.1896C>T (p.Ser632=) single nucleotide variant not provided [RCV002581004] Chr5:150060935 [GRCh38]
Chr5:149440498 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1326T>A (p.Asp442Glu) single nucleotide variant not provided [RCV002631935] Chr5:150070057 [GRCh38]
Chr5:149449620 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2245C>T (p.Pro749Ser) single nucleotide variant not provided [RCV003046599] Chr5:150057361 [GRCh38]
Chr5:149436924 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.328G>A (p.Val110Met) single nucleotide variant Inborn genetic diseases [RCV002896071] Chr5:150080316 [GRCh38]
Chr5:149459879 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.289A>G (p.Ile97Val) single nucleotide variant not provided [RCV003030479] Chr5:150080785 [GRCh38]
Chr5:149460348 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2239G>C (p.Gly747Arg) single nucleotide variant not provided [RCV002933889] Chr5:150057367 [GRCh38]
Chr5:149436930 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2758G>A (p.Glu920Lys) single nucleotide variant not provided [RCV002770817] Chr5:150054327 [GRCh38]
Chr5:149433890 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.2221+7A>T single nucleotide variant not provided [RCV002601543] Chr5:150057497 [GRCh38]
Chr5:149437060 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1320-16A>G single nucleotide variant not provided [RCV002653472] Chr5:150070079 [GRCh38]
Chr5:149449642 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2655-4C>G single nucleotide variant not provided [RCV002943353] Chr5:150054434 [GRCh38]
Chr5:149433997 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1198+15C>T single nucleotide variant not provided [RCV002604059] Chr5:150070441 [GRCh38]
Chr5:149450004 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.1948C>T (p.Leu650=) single nucleotide variant not provided [RCV002943415] Chr5:150060883 [GRCh38]
Chr5:149440446 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.890-4C>T single nucleotide variant not provided [RCV002603163] Chr5:150073497 [GRCh38]
Chr5:149453060 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2756G>C (p.Arg919Thr) single nucleotide variant not provided [RCV002676932] Chr5:150054329 [GRCh38]
Chr5:149433892 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2654+6C>T single nucleotide variant not provided [RCV003070491] Chr5:150055231 [GRCh38]
Chr5:149434794 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1749G>A (p.Gln583=) single nucleotide variant not provided [RCV002657736] Chr5:150061727 [GRCh38]
Chr5:149441290 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.599C>T (p.Pro200Leu) single nucleotide variant not provided [RCV002605797] Chr5:150078242 [GRCh38]
Chr5:149457805 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.864C>T (p.Ser288=) single nucleotide variant not provided [RCV002607666] Chr5:150077301 [GRCh38]
Chr5:149456864 [GRCh37]
Chr5:5q32
benign
NM_001288705.3(CSF1R):c.1043A>G (p.Glu348Gly) single nucleotide variant Inborn genetic diseases [RCV002724386] Chr5:150073340 [GRCh38]
Chr5:149452903 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.1316A>C (p.Asp439Ala) single nucleotide variant not provided [RCV002606958] Chr5:150070185 [GRCh38]
Chr5:149449748 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.2655-18_2655-16del deletion not provided [RCV002586295] Chr5:150054446..150054448 [GRCh38]
Chr5:149434009..149434011 [GRCh37]
Chr5:5q32
likely benign
NM_001288705.3(CSF1R):c.2792G>A (p.Arg931Lys) single nucleotide variant not provided [RCV002587163] Chr5:150054196 [GRCh38]
Chr5:149433759 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148292] Chr5:150077425 [GRCh38]
Chr5:149456988 [GRCh37]
Chr5:5q32
uncertain significance
NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser) single nucleotide variant Brain abnormalities, neurodegeneration, and dysosteosclerosis [