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987 records found for search term Csf1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156097591CV2310278single nucleotide variantNM_000757.6(CSF1):c.7G>A (p.Ala3Thr)not specified [RCV004157024]uncertain significance1109911030109911030Humanname
401862587CV2775260single nucleotide variantNM_000757.6(CSF1):c.10C>T (p.Pro4Ser)not specified [RCV004348383]uncertain significance1109911033109911033Humanname
405677094CV3235968single nucleotide variantNM_000757.6(CSF1):c.35C>G (p.Pro12Arg)not specified [RCV004370309]uncertain significance1109911058109911058Humanname
15194795CV695970single nucleotide variantNM_000757.6(CSF1):c.876G>A (p.Glu292=)not provided [RCV000955743]benign1109923497109923497Humanname
8628783CV83927single nucleotide variantNM_000757.5(CSF1):c.648C>T (p.Ala216=)Malignant melanoma [RCV000064008]not provided1109923269109923269Humanname
597800054CV3657903single nucleotide variantNM_000757.6(CSF1):c.180G>T (p.Glu60Asp)not specified [RCV004905521]uncertain significance1109915651109915651Humanname
598260737CV3963133single nucleotide variantNM_000757.6(CSF1):c.185C>T (p.Ser62Leu)not specified [RCV005325033]uncertain significance1109915656109915656Humanname
15107754CV718076single nucleotide variantNM_000757.6(CSF1):c.1533C>T (p.Ala511=)not provided [RCV000893543]benign1109924154109924154Humanname
15196222CV745548single nucleotide variantNM_000757.6(CSF1):c.1212G>A (p.Arg404=)not provided [RCV000911636]benign1109923833109923833Humanname
155950779CV2267907single nucleotide variantNM_000757.6(CSF1):c.844C>A (p.Pro282Thr)not specified [RCV004136200]uncertain significance1109923465109923465Humanname
155919542CV2333215single nucleotide variantNM_000757.6(CSF1):c.959G>T (p.Gly320Val)not specified [RCV004194501]uncertain significance1109923580109923580Humanname
156278779CV2348264single nucleotide variantNM_000757.6(CSF1):c.826G>A (p.Gly276Ser)not specified [RCV004191300]uncertain significance1109923447109923447Humanname
156337138CV2360897single nucleotide variantNM_000757.6(CSF1):c.392A>C (p.Asp131Ala)not specified [RCV004213666]uncertain significance1109917459109917459Humanname
156042469CV2381458single nucleotide variantNM_000757.6(CSF1):c.776A>G (p.Gln259Arg)not specified [RCV004229943]uncertain significance1109923397109923397Humanname
329378122CV2459150single nucleotide variantNM_000757.6(CSF1):c.416A>G (p.Tyr139Cys)not specified [RCV004272603]uncertain significance1109921866109921866Humanname
401761927CV2699460single nucleotide variantNM_000757.6(CSF1):c.465A>C (p.Glu155Asp)not specified [RCV004299679]uncertain significance1109921915109921915Humanname
401774431CV2713447single nucleotide variantNM_000757.6(CSF1):c.733G>C (p.Asp245His)not specified [RCV004319062]uncertain significance1109923354109923354Humanname
405677103CV3235970single nucleotide variantNM_000757.6(CSF1):c.403G>C (p.Val135Leu)not specified [RCV004370311]uncertain significance1109921853109921853Humanname
405677107CV3235971single nucleotide variantNM_000757.6(CSF1):c.631C>T (p.Leu211Phe)not specified [RCV004370312]uncertain significance1109923252109923252Humanname
405677111CV3235972single nucleotide variantNM_000757.6(CSF1):c.743G>A (p.Ser248Asn)not specified [RCV004370313]uncertain significance1109923364109923364Humanname
405677118CV3235974single nucleotide variantNM_000757.6(CSF1):c.857C>A (p.Ala286Asp)not specified [RCV004370315]uncertain significance1109923478109923478Humanname
407464805CV3429862single nucleotide variantNM_000757.6(CSF1):c.535T>G (p.Ser179Ala)not specified [RCV004613549]uncertain significance1109921985109921985Humanname
407464817CV3429865single nucleotide variantNM_000757.6(CSF1):c.760C>T (p.Pro254Ser)not specified [RCV004613552]uncertain significance1109923381109923381Humanname
407464821CV3429866single nucleotide variantNM_000757.6(CSF1):c.467C>T (p.Thr156Ile)not specified [RCV004613553]uncertain significance1109921917109921917Humanname
597800037CV3657895single nucleotide variantNM_000757.6(CSF1):c.521G>T (p.Ser174Ile)not specified [RCV004905513]uncertain significance1109921971109921971Humanname
597800039CV3657896single nucleotide variantNM_000757.6(CSF1):c.850G>C (p.Val284Leu)not specified [RCV004905514]uncertain significance1109923471109923471Humanname
597800056CV3657904single nucleotide variantNM_000757.6(CSF1):c.802G>A (p.Val268Ile)not specified [RCV004905522]uncertain significance1109923423109923423Humanname
597800058CV3657905single nucleotide variantNM_000757.6(CSF1):c.340G>A (p.Glu114Lys)not specified [RCV004905523]uncertain significance1109917407109917407Humanname
598260726CV3963131single nucleotide variantNM_000757.6(CSF1):c.952C>T (p.Pro318Ser)not specified [RCV005325031]likely benign1109923573109923573Humanname
598260743CV3963134single nucleotide variantNM_000757.6(CSF1):c.409A>G (p.Thr137Ala)not specified [RCV005325034]uncertain significance1109921859109921859Humanname
598260754CV3963136single nucleotide variantNM_000757.6(CSF1):c.941A>G (p.Glu314Gly)not specified [RCV005325036]uncertain significance1109923562109923562Humanname
598260759CV3963137single nucleotide variantNM_000757.6(CSF1):c.754C>T (p.Arg252Trp)not specified [RCV005325037]uncertain significance1109923375109923375Humanname
598260782CV3963141single nucleotide variantNM_000757.6(CSF1):c.389A>G (p.His130Arg)not specified [RCV005325041]uncertain significance1109917456109917456Humanname
8628784CV83928single nucleotide variantNM_000757.5(CSF1):c.653T>G (p.Val218Gly)Malignant melanoma [RCV000064009]not provided1109923274109923274Humanname
156170965CV2197960single nucleotide variantNM_000757.6(CSF1):c.1292C>T (p.Ser431Leu)not specified [RCV004077172]uncertain significance1109923913109923913Humanname
156290763CV2309875single nucleotide variantNM_000757.6(CSF1):c.1577A>G (p.Gln526Arg)not specified [RCV004160980]likely benign1109924783109924783Humanname
401742577CV2715265single nucleotide variantNM_000757.6(CSF1):c.1289C>T (p.Ser430Phe)not specified [RCV004324608]uncertain significance1109923910109923910Humanname
405677075CV3235964single nucleotide variantNM_000757.6(CSF1):c.1300G>C (p.Val434Leu)not specified [RCV004370305]uncertain significance1109923921109923921Humanname
405677079CV3235965single nucleotide variantNM_000757.6(CSF1):c.1345C>T (p.Arg449Trp)not specified [RCV004370306]uncertain significance1109923966109923966Humanname
405677085CV3235966single nucleotide variantNM_000757.6(CSF1):c.1442A>T (p.His481Leu)not specified [RCV004370307]uncertain significance1109924063109924063Humanname
405677089CV3235967single nucleotide variantNM_000757.6(CSF1):c.1484A>G (p.Glu495Gly)not specified [RCV004370308]likely benign1109924105109924105Humanname
407464793CV3429859single nucleotide variantNM_000757.6(CSF1):c.1409G>A (p.Arg470His)not specified [RCV004613546]uncertain significance1109924030109924030Humanname
407464797CV3429860single nucleotide variantNM_000757.6(CSF1):c.1534G>A (p.Val512Ile)not specified [RCV004613547]uncertain significance1109924155109924155Humanname
407464801CV3429861single nucleotide variantNM_000757.6(CSF1):c.1633C>G (p.Gln545Glu)not specified [RCV004613548]uncertain significance1109925157109925157Humanname
407464813CV3429864single nucleotide variantNM_000757.6(CSF1):c.1076C>T (p.Pro359Leu)not specified [RCV004613551]likely benign1109923697109923697Humanname
407464826CV3429867single nucleotide variantNM_000757.6(CSF1):c.1362G>T (p.Glu454Asp)not specified [RCV004613554]uncertain significance1109923983109923983Humanname
407464830CV3429868single nucleotide variantNM_000757.6(CSF1):c.1234G>A (p.Gly412Ser)not specified [RCV004613555]uncertain significance1109923855109923855Humanname
597800041CV3657897single nucleotide variantNM_000757.6(CSF1):c.1193C>T (p.Pro398Leu)not specified [RCV004905515]uncertain significance1109923814109923814Humanname
597800043CV3657898single nucleotide variantNM_000757.6(CSF1):c.1300G>A (p.Val434Met)not specified [RCV004905516]uncertain significance1109923921109923921Humanname
597800047CV3657900single nucleotide variantNM_000757.6(CSF1):c.1408C>T (p.Arg470Cys)not specified [RCV004905518]uncertain significance1109924029109924029Humanname
597800050CV3657901single nucleotide variantNM_000757.6(CSF1):c.1420G>C (p.Val474Leu)not specified [RCV004905519]uncertain significance1109924041109924041Humanname
597800052CV3657902single nucleotide variantNM_000757.6(CSF1):c.1019C>G (p.Pro340Arg)not specified [RCV004905520]uncertain significance1109923640109923640Humanname
598160209CV3963130single nucleotide variantNM_000757.6(CSF1):c.1346G>A (p.Arg449Gln)not specified [RCV005328723]uncertain significance1109923967109923967Humanname
598260732CV3963132single nucleotide variantNM_000757.6(CSF1):c.1052C>T (p.Pro351Leu)not specified [RCV005325032]uncertain significance1109923673109923673Humanname
598260766CV3963138single nucleotide variantNM_000757.6(CSF1):c.1121G>T (p.Arg374Met)not specified [RCV005325038]uncertain significance1109923742109923742Humanname
598260771CV3963139single nucleotide variantNM_000757.6(CSF1):c.1460G>C (p.Gly487Ala)not specified [RCV005325039]uncertain significance1109924081109924081Humanname
598260776CV3963140single nucleotide variantNM_000757.6(CSF1):c.1256T>G (p.Leu419Arg)not specified [RCV005325040]uncertain significance1109923877109923877Humanname
598260787CV3963142single nucleotide variantNM_000757.6(CSF1):c.1307C>A (p.Pro436His)not specified [RCV005325042]uncertain significance1109923928109923928Humanname
15144237CV745549single nucleotide variantNM_000757.6(CSF1):c.1592C>T (p.Ala531Val)not provided [RCV000922333]likely benign1109924798109924798Humanname
8628785CV83929single nucleotide variantNM_000757.5(CSF1):c.1418C>T (p.Ser473Phe)Malignant melanoma [RCV000064010]not provided1109924039109924039Humanname
9687372CV171835single nucleotide variantNM_005211.3(CSF1R):c.2467C>THereditary diffuse leukoencephalopathy with spheroids [RCV000149538]pathogenic5150056112150056112Human1name
11594174CV296413single nucleotide variantNM_005211.4(CSF1R):c.-249G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000356358]benign|likely benign5150113329150113329Human1name
11645377CV298246single nucleotide variantNM_005211.4(CSF1R):c.-199G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000265354]uncertain significance5150113279150113279Human1name
11594318CV302660single nucleotide variantNM_005211.4(CSF1R):c.-187G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000357654]benign|likely benign5150113267150113267Human1name
28888947CV893609single nucleotide variantNM_005211.4(CSF1R):c.-200C>THereditary diffuse leukoencephalopathy with spheroids [RCV001151924]uncertain significance5150113280150113280Human1name
28896476CV893589single nucleotide variantNM_001288705.3(CSF1R):c.*5T>CHereditary diffuse leukoencephalopathy with spheroids [RCV001154674]uncertain significance5150054064150054064Human1name
28903066CV893607single nucleotide variantNM_001288705.3(CSF1R):c.-2C>THereditary diffuse leukoencephalopathy with spheroids [RCV001157392]uncertain significance5150086429150086429Human1name
11594519CV302309single nucleotide variantNM_001288705.3(CSF1R):c.*35C>TBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662317]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000360123]|not provided [RCV001636977]benign5150054034150054034Human2name
11594814CV302381single nucleotide variantNM_001288705.3(CSF1R):c.-25T>AHereditary diffuse leukoencephalopathy with spheroids [RCV000363553]benign|likely benign5150086452150086452Human1name
11597875CV302578single nucleotide variantNM_001288705.3(CSF1R):c.*64C>THereditary diffuse leukoencephalopathy with spheroids [RCV000399133]benign|likely benign5150054005150054005Human1name
11588746CV302581single nucleotide variantNM_001288705.3(CSF1R):c.*36A>CBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662316]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000305450]|not provided [RCV001618634]benign5150054033150054033Human2name
597717245CV3733327single nucleotide variantNM_005211.4(CSF1R):c.-181+2T>Gnot provided [RCV005052517]uncertain significance5150113259150113259Humanname
28896471CV893588single nucleotide variantNM_001288705.3(CSF1R):c.*56G>AHereditary diffuse leukoencephalopathy with spheroids [RCV001154673]uncertain significance5150054013150054013Human1name
11583490CV296361single nucleotide variantNM_001288705.3(CSF1R):c.*539C>AHereditary diffuse leukoencephalopathy with spheroids [RCV000266964]uncertain significance5150053530150053530Human1name
11597688CV296367single nucleotide variantNM_001288705.3(CSF1R):c.*199A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000396988]benign|likely benign5150053870150053870Human1name
11653037CV296369single nucleotide variantNM_001288705.3(CSF1R):c.*156G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000308657]uncertain significance5150053913150053913Human1name
11597610CV296403single nucleotide variantNM_001288705.3(CSF1R):c.-101G>THereditary diffuse leukoencephalopathy with spheroids [RCV000395888]likely benign|uncertain significance5150086528150086528Human1name
11590392CV298190single nucleotide variantNM_001288705.3(CSF1R):c.*405G>CHereditary diffuse leukoencephalopathy with spheroids [RCV000318832]benign|likely benign5150053664150053664Human1name
11595688CV298204single nucleotide variantNM_001288705.3(CSF1R):c.*310C>AHereditary diffuse leukoencephalopathy with spheroids [RCV000373433]benign5150053759150053759Human1name
11589438CV302301single nucleotide variantNM_001288705.3(CSF1R):c.*769A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000310853]benign5150053300150053300Human1name
11590764CV302304single nucleotide variantNM_001288705.3(CSF1R):c.*531C>THereditary diffuse leukoencephalopathy with spheroids [RCV000322128]likely benign|uncertain significance5150053538150053538Human1name
11585634CV302305single nucleotide variantNM_001288705.3(CSF1R):c.*500C>THereditary diffuse leukoencephalopathy with spheroids [RCV000282534]benign|likely benign5150053569150053569Human1name
11585066CV302306single nucleotide variantNM_001288705.3(CSF1R):c.*249A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000278261]likely benign|uncertain significance5150053820150053820Human1name
11598123CV302519single nucleotide variantNM_001288705.3(CSF1R):c.*774A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000401954]benign|likely benign5150053295150053295Human1name
11584049CV302526single nucleotide variantNM_001288705.3(CSF1R):c.*715C>THereditary diffuse leukoencephalopathy with spheroids [RCV000270938]uncertain significance5150053354150053354Human1name
11591068CV302527single nucleotide variantNM_001288705.3(CSF1R):c.*604A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000325526]benign|likely benign5150053465150053465Human1name
11659800CV302552single nucleotide variantNM_001288705.3(CSF1R):c.*561C>THereditary diffuse leukoencephalopathy with spheroids [RCV000361550]uncertain significance5150053508150053508Human1name
11595970CV302554single nucleotide variantNM_001288705.3(CSF1R):c.*512T>CHereditary diffuse leukoencephalopathy with spheroids [RCV000376771]benign5150053557150053557Human1name
11593743CV302555deletionNM_001288705.3(CSF1R):c.*234delHereditary diffuse leukoencephalopathy with spheroids [RCV000351959]uncertain significance5150053835150053835Human1name
11593398CV302570single nucleotide variantNM_001288705.3(CSF1R):c.*231C>GHereditary diffuse leukoencephalopathy with spheroids [RCV000348297]benign|likely benign5150053838150053838Human1name
11593059CV302577single nucleotide variantNM_001288705.3(CSF1R):c.*116C>THereditary diffuse leukoencephalopathy with spheroids [RCV000344888]likely benign|uncertain significance5150053953150053953Human1name
11652459CV302658single nucleotide variantNM_001288705.3(CSF1R):c.-102C>THereditary diffuse leukoencephalopathy with spheroids [RCV000305256]uncertain significance5150086529150086529Human1name
28896132CV893576single nucleotide variantNM_001288705.3(CSF1R):c.*768T>GHereditary diffuse leukoencephalopathy with spheroids [RCV001154548]uncertain significance5150053301150053301Human1name
28898408CV893577single nucleotide variantNM_001288705.3(CSF1R):c.*749C>THereditary diffuse leukoencephalopathy with spheroids [RCV001155387]uncertain significance5150053320150053320Human1name
28898314CV893578single nucleotide variantNM_001288705.3(CSF1R):c.*733G>AHereditary diffuse leukoencephalopathy with spheroids [RCV001155388]uncertain significance5150053336150053336Human1name
28898318CV893579single nucleotide variantNM_001288705.3(CSF1R):c.*619G>THereditary diffuse leukoencephalopathy with spheroids [RCV001155389]uncertain significance5150053450150053450Human1name
28898321CV893580single nucleotide variantNM_001288705.3(CSF1R):c.*532G>AHereditary diffuse leukoencephalopathy with spheroids [RCV001155390]benign5150053537150053537Human1name
28902300CV893581single nucleotide variantNM_001288705.3(CSF1R):c.*530C>AHereditary diffuse leukoencephalopathy with spheroids [RCV001157074]uncertain significance5150053539150053539Human1name
28902305CV893582single nucleotide variantNM_001288705.3(CSF1R):c.*263G>CHereditary diffuse leukoencephalopathy with spheroids [RCV001157075]uncertain significance5150053806150053806Human1name
28887975CV893583single nucleotide variantNM_001288705.3(CSF1R):c.*233C>AHereditary diffuse leukoencephalopathy with spheroids [RCV001151624]uncertain significance5150053836150053836Human1name
28887979CV893584single nucleotide variantNM_001288705.3(CSF1R):c.*232C>GHereditary diffuse leukoencephalopathy with spheroids [RCV001151625]uncertain significance5150053837150053837Human1name
28887984CV893585single nucleotide variantNM_001288705.3(CSF1R):c.*230C>AHereditary diffuse leukoencephalopathy with spheroids [RCV001151626]uncertain significance5150053839150053839Human1name
28887987CV893586single nucleotide variantNM_001288705.3(CSF1R):c.*221C>THereditary diffuse leukoencephalopathy with spheroids [RCV001151627]benign5150053848150053848Human1name
28896467CV893587single nucleotide variantNM_001288705.3(CSF1R):c.*101T>CHereditary diffuse leukoencephalopathy with spheroids [RCV001154672]|not provided [RCV004694974]uncertain significance5150053968150053968Human1name
28888943CV893608single nucleotide variantNM_001288705.3(CSF1R):c.-115C>AHereditary diffuse leukoencephalopathy with spheroids [RCV001151923]uncertain significance5150086542150086542Human1name
150447260CV1216090single nucleotide variantNM_001288705.3(CSF1R):c.49+51A>Gnot provided [RCV001611388]benign5150086328150086328Humanname
150501815CV1241042single nucleotide variantNM_005211.4(CSF1R):c.-180-145G>Cnot provided [RCV001656938]benign5150086752150086752Humanname
150503313CV1257768single nucleotide variantNM_005211.4(CSF1R):c.-180-119A>Gnot provided [RCV001677456]benign5150086726150086726Humanname
151766185CV1359064single nucleotide variantNM_001288705.3(CSF1R):c.49+16G>Tnot provided [RCV001970720]likely benign|uncertain significance5150086363150086363Humanname
151854086CV1376445single nucleotide variantNM_001288705.3(CSF1R):c.592+4C>Tnot provided [RCV001996323]uncertain significance5150080048150080048Humanname
151768274CV1394077single nucleotide variantNM_001288705.3(CSF1R):c.592+3G>Anot provided [RCV002008598]uncertain significance5150080049150080049Humanname
151858893CV1398363single nucleotide variantNM_001288705.3(CSF1R):c.307+3G>Tnot provided [RCV002017511]uncertain significance5150080764150080764Humanname
151871411CV1413758single nucleotide variantNM_001288705.3(CSF1R):c.730-5T>Gnot provided [RCV001998390]uncertain significance5150077440150077440Humanname
152129451CV1554648single nucleotide variantNM_001288705.3(CSF1R):c.50-20C>Tnot provided [RCV002176604]likely benign5150081044150081044Humanname
152176406CV1594119single nucleotide variantNM_001288705.3(CSF1R):c.49+13C>Tnot provided [RCV002164551]likely benign5150086366150086366Humanname
152171656CV1597700single nucleotide variantNM_001288705.3(CSF1R):c.49+18G>Cnot provided [RCV002162191]likely benign5150086361150086361Humanname
155716349CV1780480single nucleotide variantNM_001288705.3(CSF1R):c.592+5G>Anot provided [RCV002306085]conflicting interpretations of pathogenicity|uncertain significance5150080047150080047Humanname
156370855CV1920221single nucleotide variantNM_001288705.3(CSF1R):c.890-4C>Tnot provided [RCV002603163]likely benign5150073497150073497Humanname
155973440CV1974841single nucleotide variantNM_001288705.3(CSF1R):c.307+8G>Anot provided [RCV002617285]likely benign5150080759150080759Humanname
156203292CV2163661single nucleotide variantNM_001288705.3(CSF1R):c.593-5C>Tnot provided [RCV003042049]uncertain significance5150078253150078253Humanname
11594526CV302348single nucleotide variantNM_001288705.3(CSF1R):c.593-9C>THereditary diffuse leukoencephalopathy with spheroids [RCV000360223]|not provided [RCV000900536]benign|likely benign5150078257150078257Human1name
11661303CV302354single nucleotide variantNM_001288705.3(CSF1R):c.307+5G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000375204]|not provided [RCV001310530]uncertain significance5150080762150080762Human1name
405187899CV3156565single nucleotide variantNM_001288705.3(CSF1R):c.890-3C>Tnot provided [RCV003859443]uncertain significance5150073496150073496Humanname
405241571CV3176978single nucleotide variantNM_001288705.3(CSF1R):c.49+18G>Tnot provided [RCV003867419]likely benign5150086361150086361Humanname
597897842CV3826552single nucleotide variantNM_001288705.3(CSF1R):c.49+17G>Cnot provided [RCV005180685]likely benign5150086362150086362Humanname
28903064CV896064single nucleotide variantNM_001288705.3(CSF1R):c.49+14G>CHereditary diffuse leukoencephalopathy with spheroids [RCV001157391]|not provided [RCV002558374]likely benign5150086365150086365Human1name
127274739CV1094133single nucleotide variantNM_001288705.3(CSF1R):c.593-13C>Tnot provided [RCV001442961]likely benign5150078261150078261Humanname
127314353CV1154961single nucleotide variantNM_001288705.3(CSF1R):c.593-19G>Anot provided [RCV001519581]benign5150078267150078267Humanname
150407334CV1199933single nucleotide variantNM_001288705.3(CSF1R):c.2554+3G>ACSF1R-related disorder [RCV003931220]|not provided [RCV001579742]likely benign|uncertain significance5150056023150056023Human1name , trait , alternate_id
150406799CV1199934single nucleotide variantNM_001288705.3(CSF1R):c.2222-3T>Cnot provided [RCV001579509]likely benign5150057387150057387Humanname
150513968CV1210792single nucleotide variantNM_001288705.3(CSF1R):c.889+67A>Tnot provided [RCV001598833]benign5150077209150077209Humanname
150514353CV1228178single nucleotide variantNM_001288705.3(CSF1R):c.592+54C>Gnot provided [RCV001638456]benign5150079998150079998Humanname
150509387CV1229876single nucleotide variantNM_001288705.3(CSF1R):c.889+28C>Tnot provided [RCV001636456]benign5150077248150077248Humanname
150450713CV1232711single nucleotide variantNM_001288705.3(CSF1R):c.889+68G>Tnot provided [RCV001647786]benign5150077208150077208Humanname
150470235CV1243291single nucleotide variantNM_001288705.3(CSF1R):c.592+41G>Anot provided [RCV001650813]benign5150080011150080011Humanname
150483817CV1245174single nucleotide variantNM_001288705.3(CSF1R):c.50-214G>Anot provided [RCV001653351]benign5150081238150081238Humanname
8591096CV125918single nucleotide variantNM_001288705.3(CSF1R):c.2442+1G>THereditary diffuse leukoencephalopathy with spheroids [RCV000106404]pathogenic5150056218150056218Human1name
150452398CV1275255single nucleotide variantNM_001288705.3(CSF1R):c.1754-3C>GHereditary diffuse leukoencephalopathy with spheroids [RCV001706768]uncertain significance5150061598150061598Human1name
151348116CV1322382single nucleotide variantNM_001288705.3(CSF1R):c.2442+5G>AInborn genetic diseases [RCV004611880]|not provided [RCV001804187]likely pathogenic|uncertain significance5150056214150056214Human1name
151772214CV1481973single nucleotide variantNM_001288705.3(CSF1R):c.1510+5G>Cnot provided [RCV002008954]uncertain significance5150069868150069868Humanname
151807353CV1500608duplicationNM_001288705.3(CSF1R):c.2442+2dupCSF1R-Related Adult-Onset Leukoencephalopathy [RCV003492704]|not provided [RCV001974459]pathogenic|uncertain significance5150056216150056217Human1name , trait
152059008CV1536002single nucleotide variantNM_001288705.3(CSF1R):c.307+12G>Anot provided [RCV002146559]likely benign5150080755150080755Humanname
152126301CV1544736single nucleotide variantNM_001288705.3(CSF1R):c.592+20C>Anot provided [RCV002154920]likely benign5150080032150080032Humanname
152149218CV1566487single nucleotide variantNM_001288705.3(CSF1R):c.2654+7G>Anot provided [RCV002139262]likely benign5150055230150055230Humanname
152061635CV1594376single nucleotide variantNM_001288705.3(CSF1R):c.2555-9C>Tnot provided [RCV002110183]likely benign5150055345150055345Humanname
152088827CV1603303single nucleotide variantNM_001288705.3(CSF1R):c.592+20C>Tnot provided [RCV002077426]likely benign5150080032150080032Humanname
152131854CV1604646single nucleotide variantNM_001288705.3(CSF1R):c.2132+9T>Cnot provided [RCV002099597]likely benign5150059691150059691Humanname
152121773CV1613248single nucleotide variantNM_001288705.3(CSF1R):c.729+13A>Gnot provided [RCV002154353]likely benign5150078099150078099Humanname
152047183CV1614421single nucleotide variantNM_001288705.3(CSF1R):c.730-16T>Cnot provided [RCV002071734]likely benign5150077451150077451Humanname
152170343CV1651036single nucleotide variantNM_001288705.3(CSF1R):c.1083-7C>Tnot provided [RCV002143088]likely benign5150070578150070578Humanname
152042120CV1669961single nucleotide variantNM_001288705.3(CSF1R):c.2132+2T>Cnot provided [RCV002224863]likely pathogenic5150059698150059698Humanname
9687363CV171826single nucleotide variantNM_001288705.3(CSF1R):c.2655-2A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000149529]pathogenic5150054432150054432Human1name
156406770CV1891337single nucleotide variantNM_001288705.3(CSF1R):c.2654+6C>Tnot provided [RCV003070491]uncertain significance5150055231150055231Humanname
156443882CV1941159single nucleotide variantNM_001288705.3(CSF1R):c.1754-7G>Anot provided [RCV003114793]likely benign|conflicting interpretations of pathogenicity5150061602150061602Humanname
156346337CV1970550single nucleotide variantNM_001288705.3(CSF1R):c.2221+7A>Tnot provided [RCV002601543]likely benign5150057497150057497Humanname
156164191CV1971388single nucleotide variantNM_001288705.3(CSF1R):c.308-14C>Tnot provided [RCV002594570]likely benign5150080350150080350Humanname
155909445CV1980024single nucleotide variantNM_001288705.3(CSF1R):c.1511-8C>Anot provided [RCV002613880]likely benign5150068338150068338Humanname
156244408CV2029320single nucleotide variantNM_001288705.3(CSF1R):c.1082+1G>Anot provided [RCV002745776]likely pathogenic5150073300150073300Humanname
155944305CV2032574single nucleotide variantNM_001288705.3(CSF1R):c.1511-6T>Cnot provided [RCV002730313]likely benign5150068336150068336Humanname
156221503CV2084062single nucleotide variantNM_001288705.3(CSF1R):c.730-10C>Tnot provided [RCV002875887]likely benign5150077445150077445Humanname
156132775CV2085027single nucleotide variantNM_001288705.3(CSF1R):c.2319+3G>Anot provided [RCV002871698]uncertain significance5150057284150057284Humanname
156257128CV2090094single nucleotide variantNM_001288705.3(CSF1R):c.592+17G>Anot provided [RCV002877140]likely benign5150080035150080035Humanname
156224411CV2103637single nucleotide variantNM_001288705.3(CSF1R):c.1753+9G>Anot provided [RCV002918697]likely benign5150061714150061714Humanname
156383989CV2128270single nucleotide variantNM_001288705.3(CSF1R):c.2655-4C>Gnot provided [RCV002943353]likely benign5150054434150054434Humanname
155986326CV2136947single nucleotide variantNM_001288705.3(CSF1R):c.308-12C>Tnot provided [RCV002996349]likely benign5150080348150080348Humanname
156303514CV2146567single nucleotide variantNM_001288705.3(CSF1R):c.2133-9C>Tnot provided [RCV003028208]likely benign5150057601150057601Humanname
156141401CV2177912single nucleotide variantNM_001288705.3(CSF1R):c.730-18C>Tnot provided [RCV003040049]likely benign5150077453150077453Humanname
401799085CV2741661single nucleotide variantNM_001288705.3(CSF1R):c.2442+2T>Cnot provided [RCV003323069]likely pathogenic5150056217150056217Humanname
11592056CV296383single nucleotide variantNM_001288705.3(CSF1R):c.1083-8T>CHereditary diffuse leukoencephalopathy with spheroids [RCV000335208]|not provided [RCV000971517]benign|likely benign5150070579150070579Human1name
402495488CV2978681single nucleotide variantNM_001288705.3(CSF1R):c.1969+5G>Cnot provided [RCV003714214]uncertain significance5150060857150060857Humanname
11587965CV298222deletionNM_001288705.3(CSF1R):c.2132+8delHereditary diffuse leukoencephalopathy with spheroids [RCV000299252]uncertain significance5150059692150059692Human1name
11593965CV298223single nucleotide variantNM_001288705.3(CSF1R):c.2132+5C>THereditary diffuse leukoencephalopathy with spheroids [RCV000354126]|not provided [RCV001521045]|not specified [RCV001795971]benign5150059695150059695Human1name
11595087CV298224single nucleotide variantNM_001288705.3(CSF1R):c.1626+7C>THereditary diffuse leukoencephalopathy with spheroids [RCV000366714]|not provided [RCV001522247]benign5150068208150068208Human1name
11584178CV302322single nucleotide variantNM_001288705.3(CSF1R):c.1626+3G>AHereditary diffuse leukoencephalopathy with spheroids [RCV000272029]|Inborn genetic diseases [RCV002520342]|not provided [RCV000971516]benign|likely benign5150068212150068212Human2name
404981265CV3121128single nucleotide variantNM_001288705.3(CSF1R):c.1319+8G>Tnot provided [RCV003826120]likely benign5150070174150070174Humanname
405143273CV3126061single nucleotide variantNM_001288705.3(CSF1R):c.890-18G>Tnot provided [RCV003816977]likely benign5150073511150073511Humanname
405108991CV3136759single nucleotide variantNM_001288705.3(CSF1R):c.593-12C>Anot provided [RCV003835913]likely benign5150078260150078260Humanname
405022822CV3139303single nucleotide variantNM_001288705.3(CSF1R):c.1754-8C>Tnot provided [RCV003829946]likely benign5150061603150061603Humanname
405190561CV3149665single nucleotide variantNM_001288705.3(CSF1R):c.1626+8G>Anot provided [RCV003843391]likely benign5150068207150068207Humanname
405233522CV3157963single nucleotide variantNM_001288705.3(CSF1R):c.1627-3C>Tnot provided [RCV003865719]uncertain significance5150061852150061852Humanname
405239177CV3165852single nucleotide variantNM_001288705.3(CSF1R):c.2132+5C>Anot provided [RCV003866864]uncertain significance5150059695150059695Humanname
405278824CV3212695single nucleotide variantNM_001288705.3(CSF1R):c.2763+9G>ACSF1R-related disorder [RCV003954721]|not specified [RCV004701871]likely benign5150054313150054313Human1name , trait , alternate_id
597846188CV3736426single nucleotide variantNM_001288705.3(CSF1R):c.2763+9G>Cnot provided [RCV005060004]likely benign5150054313150054313Humanname
597920418CV3738077single nucleotide variantNM_001288705.3(CSF1R):c.2442+7G>Tnot provided [RCV005074676]likely benign5150056212150056212Humanname
597937700CV3774741single nucleotide variantNM_001288705.3(CSF1R):c.2133-5T>Cnot provided [RCV005117774]likely benign5150057597150057597Humanname
597899341CV3782581single nucleotide variantNM_001288705.3(CSF1R):c.2764-6C>Tnot provided [RCV005126806]likely benign5150054230150054230Humanname
8567938CV38767single nucleotide variantNM_001288705.3(CSF1R):c.1754-2A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000022686]pathogenic5150061597150061597Human1name
8570064CV46937single nucleotide variantNM_001288705.3(CSF1R):c.2320-2A>GHereditary diffuse leukoencephalopathy with spheroids [RCV000031930]pathogenic5150056343150056343Humanname , alternate_id
8570067CV46940single nucleotide variantNM_001288705.3(CSF1R):c.2442+5G>CHereditary diffuse leukoencephalopathy with spheroids [RCV000031933]pathogenic5150056214150056214Humanname , alternate_id
14696639CV622959single nucleotide variantNM_001288705.3(CSF1R):c.1754-1G>CBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785989]pathogenic5150061596150061596Human1name
15198938CV775022single nucleotide variantNM_001288705.3(CSF1R):c.1753+7T>Cnot provided [RCV000934958]benign5150061716150061716Humanname
15200396CV775150single nucleotide variantNM_001288705.3(CSF1R):c.1199-6C>TInborn genetic diseases [RCV002544494]|not provided [RCV000935369]likely benign|uncertain significance5150070308150070308Human1name
28898614CV896062single nucleotide variantNM_001288705.3(CSF1R):c.2763+7G>AHereditary diffuse leukoencephalopathy with spheroids [RCV001155504]uncertain significance5150054315150054315Human1name
39456345CV966615single nucleotide variantNM_001288705.3(CSF1R):c.1969+1G>AHereditary diffuse leukoencephalopathy with spheroids [RCV001257140]pathogenic5150060861150060861Human1name
126730212CV1020057single nucleotide variantNM_001288705.3(CSF1R):c.1198+19C>AHereditary diffuse leukoencephalopathy with spheroids [RCV001333367]uncertain significance5150070437150070437Human1name
150406879CV1199935single nucleotide variantNM_001288705.3(CSF1R):c.2222-18C>Tnot provided [RCV001579544]benign|likely benign5150057402150057402Humanname
150510471CV1211712single nucleotide variantNM_001288705.3(CSF1R):c.1969+91C>Tnot provided [RCV001597607]benign5150060771150060771Humanname
150452034CV1220942single nucleotide variantNM_001288705.3(CSF1R):c.307+154C>Tnot provided [RCV001612036]benign5150080613150080613Humanname
150435472CV1227237single nucleotide variantNM_001288705.3(CSF1R):c.2133-35G>CBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001658349]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001658348]|not provided [RCV001639337]benign5150057627150057627Human2name
150446079CV1233285single nucleotide variantNM_001288705.3(CSF1R):c.1970-33A>Cnot provided [RCV001645959]benign5150059895150059895Humanname
150436918CV1245342single nucleotide variantNM_001288705.3(CSF1R):c.2442+23C>TBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001661315]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001661314]|not provided [RCV001713673]benign5150056196150056196Human2name
150492190CV1253887single nucleotide variantNM_001288705.3(CSF1R):c.2763+28G>Cnot provided [RCV001674983]benign5150054294150054294Humanname
150443429CV1266394single nucleotide variantNM_001288705.3(CSF1R):c.1970-69G>Tnot provided [RCV001690830]benign5150059931150059931Humanname
150477009CV1271984deletionNM_001288705.3(CSF1R):c.1858+37delnot provided [RCV001696269]benign5150061454150061454Humanname
150477566CV1272065single nucleotide variantNM_001288705.3(CSF1R):c.729+182T>Cnot provided [RCV001696350]benign5150077930150077930Humanname
150477449CV1279448single nucleotide variantNM_001288705.3(CSF1R):c.1082+71G>Anot provided [RCV001714133]benign5150073230150073230Humanname
151235470CV1318789single nucleotide variantNM_001288705.3(CSF1R):c.2654+12G>THereditary diffuse leukoencephalopathy with spheroids [RCV001795607]|not provided [RCV001885225]uncertain significance5150055225150055225Human1name
151235527CV1318861single nucleotide variantNM_001288705.3(CSF1R):c.1626+13G>Anot provided [RCV001795677]benign|likely benign5150068202150068202Humanname
151235529CV1318863single nucleotide variantNM_001288705.3(CSF1R):c.1510+16C>TBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002478026]|not provided [RCV001795679]benign|likely benign5150069857150069857Human1name , alternate_id
151774040CV1402293single nucleotide variantNM_001288705.3(CSF1R):c.1083-18C>Gnot provided [RCV001929802]likely benign|uncertain significance5150070589150070589Humanname
152175701CV1527090single nucleotide variantNM_001288705.3(CSF1R):c.2320-20C>Tnot provided [RCV002163837]likely benign5150056361150056361Humanname
152103524CV1544555single nucleotide variantNM_001288705.3(CSF1R):c.1754-13G>Anot provided [RCV002115656]benign5150061608150061608Humanname
152153157CV1545277single nucleotide variantNM_001288705.3(CSF1R):c.1198+19C>Tnot provided [RCV002139829]likely benign5150070437150070437Humanname
152154633CV1563649single nucleotide variantNM_001288705.3(CSF1R):c.1858+20G>Anot provided [RCV002202494]likely benign5150061471150061471Humanname
152156959CV1586075single nucleotide variantNM_001288705.3(CSF1R):c.2442+15G>Anot provided [RCV002140279]likely benign5150056204150056204Humanname
152058940CV1595795single nucleotide variantNM_001288705.3(CSF1R):c.1859-18T>Cnot provided [RCV002090027]likely benign5150060990150060990Humanname
152091252CV1602833single nucleotide variantNM_001288705.3(CSF1R):c.2654+20G>Anot provided [RCV002194329]likely benign5150055217150055217Humanname
152151240CV1605714single nucleotide variantNM_001288705.3(CSF1R):c.1198+12G>Anot provided [RCV002102264]likely benign5150070444150070444Humanname
152106787CV1609696duplicationNM_001288705.3(CSF1R):c.2133-20dupnot provided [RCV002116028]benign5150057611150057612Humanname
152034570CV1610619single nucleotide variantNM_001288705.3(CSF1R):c.1082+20G>Anot provided [RCV002125118]benign5150073281150073281Humanname
152085279CV1620959single nucleotide variantNM_001288705.3(CSF1R):c.2221+13C>Tnot provided [RCV002193550]likely benign5150057491150057491Humanname
152043942CV1637766single nucleotide variantNM_001288705.3(CSF1R):c.1198+16G>Tnot provided [RCV002144862]benign5150070440150070440Humanname
152049786CV1657091single nucleotide variantNM_001288705.3(CSF1R):c.1082+19C>Tnot provided [RCV002189265]likely benign5150073282150073282Humanname
152090524CV1661880single nucleotide variantNM_001288705.3(CSF1R):c.1198+16G>Anot provided [RCV002131987]benign5150070440150070440Humanname
156211592CV1955783single nucleotide variantNM_001288705.3(CSF1R):c.2222-17G>Anot provided [RCV002575174]likely benign5150057401150057401Humanname
156175244CV1968572single nucleotide variantNM_001288705.3(CSF1R):c.1198+20G>Anot provided [RCV002594896]likely benign5150070436150070436Humanname
156264903CV1977702single nucleotide variantNM_001288705.3(CSF1R):c.1858+16G>Anot provided [RCV002597902]likely benign5150061475150061475Humanname
156322647CV1978962single nucleotide variantNM_001288705.3(CSF1R):c.2763+17T>Cnot provided [RCV002630452]likely benign5150054305150054305Humanname
156382405CV1979013single nucleotide variantNM_001288705.3(CSF1R):c.1198+15C>Tnot provided [RCV002604059]likely benign5150070441150070441Humanname
156095084CV1980875single nucleotide variantNM_001288705.3(CSF1R):c.1319+20C>Tnot provided [RCV002621999]likely benign5150070162150070162Humanname
156013668CV1986145single nucleotide variantNM_001288705.3(CSF1R):c.2555-20C>Tnot provided [RCV002636353]likely benign5150055356150055356Humanname
156108546CV1988580single nucleotide variantNM_001288705.3(CSF1R):c.2222-12T>Cnot provided [RCV002622482]likely benign5150057396150057396Humanname
156378356CV1996708single nucleotide variantNM_001288705.3(CSF1R):c.1320-16A>Gnot provided [RCV002653472]likely benign5150070079150070079Humanname
156247339CV2044787single nucleotide variantNM_001288705.3(CSF1R):c.1510+17G>Anot provided [RCV002805888]benign5150069856150069856Humanname
156312093CV2063487single nucleotide variantNM_001288705.3(CSF1R):c.1970-12T>Cnot provided [RCV002834183]likely benign5150059874150059874Humanname
155954356CV2166319deletionNM_001288705.3(CSF1R):c.1970-20delnot provided [RCV003015019]benign5150059882150059882Humanname
156145973CV2188258single nucleotide variantNM_001288705.3(CSF1R):c.2443-19C>Anot provided [RCV003056360]likely benign5150056156150056156Humanname
243056797CV2414936single nucleotide variantNM_005211.4(CSF1R):c.-181+13283G>Tnot provided [RCV003143369]uncertain significance5150099978150099978Humanname
402501825CV2943793single nucleotide variantNM_001288705.3(CSF1R):c.1754-20G>Cnot provided [RCV003661691]likely benign5150061615150061615Humanname
405137951CV2963326single nucleotide variantNM_001288705.3(CSF1R):c.2654+14T>Cnot provided [RCV003668948]benign5150055223150055223Humanname
11591605CV296381single nucleotide variantNM_001288705.3(CSF1R):c.1626+12C>THereditary diffuse leukoencephalopathy with spheroids [RCV000330525]|not provided [RCV001516465]benign|likely benign5150068203150068203Human1name
11588019CV298247microsatelliteNM_005211.4(CSF1R):c.-230GAAGAG[3]Hereditary diffuse leukoencephalopathy with spheroids [RCV000299451]benign5150113287150113292Humanname
11590848CV302324single nucleotide variantNM_001288705.3(CSF1R):c.1319+12C>THereditary diffuse leukoencephalopathy with spheroids [RCV000323194]|not provided [RCV005055921]likely benign|uncertain significance5150070170150070170Human1name
11654170CV302592single nucleotide variantNM_001288705.3(CSF1R):c.1753+15C>THereditary diffuse leukoencephalopathy with spheroids [RCV000315377]uncertain significance5150061708150061708Human1name
405139940CV3029798single nucleotide variantNM_001288705.3(CSF1R):c.1510+12C>Tnot provided [RCV003702420]likely benign5150069861150069861Humanname
405223846CV3035844single nucleotide variantNM_001288705.3(CSF1R):c.1510+14T>Cnot provided [RCV003710366]likely benign5150069859150069859Humanname
405189872CV3117987single nucleotide variantNM_001288705.3(CSF1R):c.1199-17C>Tnot provided [RCV003820897]likely benign5150070319150070319Humanname
405138936CV3130771single nucleotide variantNM_001288705.3(CSF1R):c.2320-12G>Anot provided [RCV003839005]likely benign5150056353150056353Humanname
405048342CV3150770deletionNM_001288705.3(CSF1R):c.2655-18delnot provided [RCV003849373]likely benign5150054448150054448Humanname
405243915CV3161139single nucleotide variantNM_001288705.3(CSF1R):c.2764-16T>Anot provided [RCV003868048]uncertain significance5150054240150054240Humanname
404998818CV3173091single nucleotide variantNM_001288705.3(CSF1R):c.1970-20C>Tnot provided [RCV003882374]likely benign5150059882150059882Humanname
597956609CV3754681single nucleotide variantNM_001288705.3(CSF1R):c.2133-15C>Gnot provided [RCV005080531]likely benign5150057607150057607Humanname
597951582CV3756484single nucleotide variantNM_001288705.3(CSF1R):c.2133-10T>Cnot provided [RCV005079541]likely benign5150057602150057602Humanname
597940673CV3757260single nucleotide variantNM_001288705.3(CSF1R):c.2133-15C>Tnot provided [RCV005077445]likely benign5150057607150057607Humanname
597944825CV3776701single nucleotide variantNM_001288705.3(CSF1R):c.2222-18C>Gnot provided [RCV005119557]likely benign5150057402150057402Humanname
597931061CV3789294single nucleotide variantNM_001288705.3(CSF1R):c.1969+11T>Cnot provided [RCV005131575]likely benign5150060851150060851Humanname
597965824CV3797162single nucleotide variantNM_001288705.3(CSF1R):c.1320-13C>Tnot provided [RCV005140121]likely benign5150070076150070076Humanname
597952379CV3815764single nucleotide variantNM_001288705.3(CSF1R):c.2442+17C>Tnot provided [RCV005161517]likely benign5150056202150056202Humanname
597896310CV3854038single nucleotide variantNM_001288705.3(CSF1R):c.1969+16T>Gnot provided [RCV005201322]likely benign5150060846150060846Humanname
597885228CV3854785single nucleotide variantNM_001288705.3(CSF1R):c.1753+19A>Tnot provided [RCV005199630]likely benign5150061704150061704Humanname
28898881CV896063single nucleotide variantNM_001288705.3(CSF1R):c.1510+13C>GHereditary diffuse leukoencephalopathy with spheroids [RCV001155616]|not provided [RCV002070912]likely benign5150069860150069860Human1name
150503869CV1212569single nucleotide variantNM_001288705.3(CSF1R):c.1859-109G>Anot provided [RCV001595444]benign5150061081150061081Humanname
150505250CV1213482single nucleotide variantNM_001288705.3(CSF1R):c.2133-160G>Anot provided [RCV001595738]benign5150057752150057752Humanname
150464384CV1214934single nucleotide variantNM_001288705.3(CSF1R):c.1511-167C>Tnot provided [RCV001613931]benign5150068497150068497Humanname
150451213CV1220831single nucleotide variantNM_001288705.3(CSF1R):c.1969+182C>Tnot provided [RCV001611925]benign5150060680150060680Humanname
150432908CV1231584single nucleotide variantNM_001288705.3(CSF1R):c.1970-163A>Gnot provided [RCV001643246]benign5150060025150060025Humanname
150455314CV1232429single nucleotide variantNM_001288705.3(CSF1R):c.1969+311G>Anot provided [RCV001648443]benign5150060551150060551Humanname
150464124CV1237734single nucleotide variantNM_001288705.3(CSF1R):c.1859-188C>Tnot provided [RCV001649741]benign5150061160150061160Humanname
150446080CV1250614single nucleotide variantNM_001288705.3(CSF1R):c.2654+116A>Cnot provided [RCV001667118]benign5150055121150055121Humanname
150498305CV1255557single nucleotide variantNM_001288705.3(CSF1R):c.1626+150T>Cnot provided [RCV001676345]benign5150068065150068065Humanname
150506908CV1258084single nucleotide variantNM_001288705.3(CSF1R):c.1969+264C>Tnot provided [RCV001678301]benign5150060598150060598Humanname
150479252CV1258225single nucleotide variantNM_001288705.3(CSF1R):c.2319+164A>Cnot provided [RCV001685641]benign5150057123150057123Humanname
150480530CV1258453single nucleotide variantNM_001288705.3(CSF1R):c.1083-124C>Tnot provided [RCV001685872]benign5150070695150070695Humanname
150488815CV1265308single nucleotide variantNM_001288705.3(CSF1R):c.1859-204T>Cnot provided [RCV001687344]benign5150061176150061176Human1name
150488815CV1265308single nucleotide variantNM_001288705.3(CSF1R):c.1859-204T>Cnot provided [RCV001687344]benign5150061176150061177Human1name
150442675CV1266270single nucleotide variantNM_001288705.3(CSF1R):c.1858+203A>Gnot provided [RCV001690706]benign5150061288150061288Humanname
150439372CV1266762single nucleotide variantNM_001288705.3(CSF1R):c.1859-242C>Tnot provided [RCV001690197]benign5150061214150061214Humanname
405279497CV3217544single nucleotide variantNM_001288705.3(CSF1R):c.1969+125C>TCSF1R-related disorder [RCV003976934]likely benign5150060737150060737Humanname , trait , alternate_id
408377470CV3507817single nucleotide variantNM_001288705.3(CSF1R):c.1969+110G>ACSF1R-related disorder [RCV004751009]likely benign5150060752150060752Humanname , trait , alternate_id
14696637CV622956single nucleotide variantNM_001288705.3(CSF1R):c.1859-119G>ABrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785986]|not specified [RCV002469289]pathogenic|uncertain significance5150061091150061091Human1name
152111078CV1582201microsatelliteNM_001288705.3(CSF1R):c.1083-12TC[2]not provided [RCV002080255]likely benign5150070578150070579Humanname
11635720CV302307duplicationNM_001288705.3(CSF1R):c.*232_*233dupHereditary diffuse leukoencephalopathy with spheroids [RCV000387788]uncertain significance5150053835150053836Human1name
11594973CV302521deletionNM_001288705.3(CSF1R):c.*721_*724delHereditary diffuse leukoencephalopathy with spheroids [RCV000365395]likely benign5150053345150053348Human1name
156024429CV2020010microsatelliteNM_001288705.3(CSF1R):c.1199-20CCT[2]not provided [RCV002691156]likely benign5150070314150070316Humanname
11587206CV302563insertionNM_001288705.3(CSF1R):c.*231_*232insGHereditary diffuse leukoencephalopathy with spheroids [RCV000293565]benign5150053837150053838Human1name
405245155CV3054744microsatelliteNM_001288705.3(CSF1R):c.308-11_308-9delnot provided [RCV003720108]likely benign5150080345150080347Humanname
38597849CV964244indelNM_001288705.3(CSF1R):c.*35_*36delinsTCHereditary diffuse leukoencephalopathy with spheroids [RCV001253216]uncertain significance5150054033150054034Humanname
152091413CV1595873duplicationNM_001288705.3(CSF1R):c.1199-10_1199-7dupnot provided [RCV002077761]likely benign5150070308150070309Humanname
156407657CV1957567deletionNM_001288705.3(CSF1R):c.2655-18_2655-16delnot provided [RCV002586295]likely benign5150054446150054448Humanname
14696638CV622958deletionNM_001288705.3(CSF1R):c.1969+115_1969+116delBrain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785988]|not provided [RCV003329339]pathogenic|likely pathogenic5150060746150060747Human1name
402502837CV2932648indelNM_001288705.3(CSF1R):c.1754-4_1754-3delinsAGnot provided [RCV003574176]uncertain significance5150061598150061599Humanname
150407914CV1199936single nucleotide variantNM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr)CSF1R-related disorder [RCV003966225]|Inborn genetic diseases [RCV005320826]|not provided [RCV001579959]uncertain significance5150060918150060918Human2name , trait , alternate_id
150438151CV1286798single nucleotide variantNM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)CSF1R-related disorder [RCV003401656]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001724744]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002290740]|not provided [RCV002539735]likely pathogenic5150056317150056317Human1name , trait , alternate_id
151235522CV1318856single nucleotide variantNM_001288705.3(CSF1R):c.819C>T (p.Ala273=)CSF1R-related disorder [RCV003913379]|not provided [RCV001795672]likely benign5150077346150077346Human1name , trait , alternate_id
151751021CV1359195single nucleotide variantNM_001288705.3(CSF1R):c.2007C>T (p.Gly669=)CSF1R-related disorder [RCV003893031]|not provided [RCV001969189]likely benign|uncertain significance5150059825150059825Human1name , trait , alternate_id
151811922CV1371482single nucleotide variantNM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys)CSF1R-related disorder [RCV003395282]|not provided [RCV001933289]likely benign|uncertain significance5150073459150073459Human1name , trait , alternate_id
151718906CV1458775single nucleotide variantNM_001288705.3(CSF1R):c.200G>A (p.Ser67Asn)CSF1R-related disorder [RCV004752122]|not provided [RCV002003354]uncertain significance5150080874150080874Human1name , trait , alternate_id
151720050CV1505981single nucleotide variantNM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg)CSF1R-related disorder [RCV003416498]|not provided [RCV002039941]likely pathogenic|uncertain significance5150056269150056269Human1name , trait , alternate_id
152082596CV1526216single nucleotide variantNM_001288705.3(CSF1R):c.1517A>C (p.His506Pro)CSF1R-related disorder [RCV003958513]|Inborn genetic diseases [RCV004045042]|not provided [RCV002170735]likely benign|uncertain significance5150068324150068324Human2name , trait , alternate_id
152129656CV1549335single nucleotide variantNM_001288705.3(CSF1R):c.993G>A (p.Leu331=)CSF1R-related disorder [RCV003895877]|not provided [RCV002099309]likely benign5150073390150073390Human1name , trait , alternate_id
152116009CV1553333single nucleotide variantNM_001288705.3(CSF1R):c.237G>A (p.Thr79=)CSF1R-related disorder [RCV003408113]|not provided [RCV002080902]likely benign|uncertain significance5150080837150080837Human1name , trait , alternate_id
152091811CV1567673single nucleotide variantNM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu)CSF1R-related disorder [RCV003950955]|not provided [RCV002212830]likely benign|uncertain significance5150080174150080174Human1name , trait , alternate_id
152029780CV1568667single nucleotide variantNM_001288705.3(CSF1R):c.1692C>T (p.Ile564=)CSF1R-related disorder [RCV004750712]|not provided [RCV002186274]likely benign5150061784150061784Human1name , trait , alternate_id
152109199CV1604213single nucleotide variantNM_001288705.3(CSF1R):c.93C>A (p.Val31=)CSF1R-related disorder [RCV003941262]|not provided [RCV002080015]likely benign5150080981150080981Human1name , trait , alternate_id
152108751CV1643655single nucleotide variantNM_001288705.3(CSF1R):c.2253G>A (p.Glu751=)CSF1R-related disorder [RCV004752157]|not provided [RCV002096551]likely benign5150057353150057353Human1name , trait , alternate_id
9687357CV171840single nucleotide variantNM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)CSF1R-related disorder [RCV003398795]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000149523]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004760398]|not provided [RCV001850025]pathogenic|not provided5150056331150056331Human1name , trait , alternate_id
156016987CV1912894single nucleotide variantNM_001288705.3(CSF1R):c.2208C>T (p.Ser736=)CSF1R-related disorder [RCV004750830]|not provided [RCV002619195]likely benign5150057517150057517Human1name , trait , alternate_id
156407644CV1915024single nucleotide variantNM_001288705.3(CSF1R):c.1316A>C (p.Asp439Ala)CSF1R-related disorder [RCV004750837]|not provided [RCV002606958]uncertain significance5150070185150070185Human1name , trait , alternate_id
156435916CV1937235single nucleotide variantNM_001288705.3(CSF1R):c.2343G>A (p.Ala781=)CSF1R-related disorder [RCV003900939]|not provided [RCV003105097]benign|likely benign5150056318150056318Human1name , trait , alternate_id
156169175CV1971667single nucleotide variantNM_001288705.3(CSF1R):c.2128C>T (p.Arg710Cys)CSF1R-related disorder [RCV004750751]|Inborn genetic diseases [RCV002594717]|not provided [RCV002603824]uncertain significance5150059704150059704Human2name , trait , alternate_id
156294698CV2111590single nucleotide variantNM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)CSF1R-related disorder [RCV003418646]|not provided [RCV002922297]likely benign|uncertain significance5150057349150057349Human1name , trait , alternate_id
156157702CV2140547single nucleotide variantNM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys)CSF1R-related disorder [RCV003916708]|not provided [RCV003004945]benign|likely benign5150069887150069887Human1name , trait , alternate_id
401925900CV2796330single nucleotide variantNM_001288705.3(CSF1R):c.1492T>C (p.Phe498Leu)CSF1R-related disorder [RCV003405787]uncertain significance5150069891150069891Humanname , trait , alternate_id
405123779CV2942609single nucleotide variantNM_001288705.3(CSF1R):c.1704G>A (p.Gln568=)CSF1R-related disorder [RCV003966548]|not provided [RCV003671752]likely benign5150061772150061772Human1name , trait , alternate_id
11588305CV296374single nucleotide variantNM_001288705.3(CSF1R):c.2862C>T (p.Cys954=)CSF1R-related disorder [RCV003970025]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000302042]|not provided [RCV001357348]benign|likely benign5150054126150054126Human1name , trait , alternate_id
11582350CV296377single nucleotide variantNM_001288705.3(CSF1R):c.1929C>T (p.His643=)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002504163]|CSF1R-related disorder [RCV003902363]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000259350]|not provided [RCV000906141]benign|likely benign5150060902150060902Human2name , trait , alternate_id
11597467CV296393single nucleotide variantNM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)CSF1R-related disorder [RCV003957818]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000394491]|not provided [RCV000885737]|not specified [RCV002282125]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5150077284150077284Human1name , trait , alternate_id
11598335CV296402single nucleotide variantNM_001288705.3(CSF1R):c.192C>T (p.Gly64=)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002488775]|CSF1R-related disorder [RCV003912502]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000404408]|not provided [RCV000899774]benign|likely benign5150080882150080882Human2name , trait , alternate_id
11582753CV298208single nucleotide variantNM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)CSF1R-related disorder [RCV003922550]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000262118]|not provided [RCV000881997]|not specified [RCV001579408]benign|likely benign5150054189150054189Human1name , trait , alternate_id
11597032CV298211single nucleotide variantNM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro)CSF1R-related disorder [RCV004751490]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000389397]|Inborn genetic diseases [RCV002520339]|not provided [RCV002520340]benign|uncertain significance5150054323150054323Human2name , trait , alternate_id
11596727CV298212single nucleotide variantNM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)CSF1R-related disorder [RCV003922551]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000385964]|not provided [RCV000974616]|not specified [RCV001795970]benign|likely benign5150054376150054376Human1name , trait , alternate_id
11595116CV298231single nucleotide variantNM_001288705.3(CSF1R):c.802G>A (p.Val268Ile)CSF1R-related disorder [RCV003957819]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000367035]|not provided [RCV000897858]benign|likely benign5150077363150077363Human1name , trait , alternate_id
11584757CV302310single nucleotide variantNM_001288705.3(CSF1R):c.2761C>T (p.Arg921Trp)CSF1R-related disorder [RCV003950249]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000276317]|not provided [RCV002061267]benign|likely benign|uncertain significance5150054324150054324Human1name , trait , alternate_id
11598175CV302327single nucleotide variantNM_001288705.3(CSF1R):c.1111C>T (p.Leu371=)CSF1R-related disorder [RCV003970026]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000402541]|not provided [RCV000899955]likely benign|uncertain significance5150070543150070543Human1name , trait , alternate_id
11589632CV302336single nucleotide variantNM_001288705.3(CSF1R):c.835G>A (p.Val279Met)CSF1R-related disorder [RCV003932443]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000312247]|not provided [RCV000888415]|not specified [RCV001796744]benign|likely benign5150077330150077330Human1name , trait , alternate_id
11598144CV302337single nucleotide variantNM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)CSF1R-related disorder [RCV003912501]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000401860]|Inborn genetic diseases [RCV002523513]|not provided [RCV000900257]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5150077401150077401Human2name , trait , alternate_id
11590252CV302376single nucleotide variantNM_001288705.3(CSF1R):c.282C>T (p.Ser94=)CSF1R-related disorder [RCV003972479]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000317221]|not provided [RCV000887672]|not specified [RCV001579464]benign|likely benign5150080792150080792Human1name , trait , alternate_id
11583329CV302585single nucleotide variantNM_001288705.3(CSF1R):c.2886C>T (p.Pro962=)CSF1R-related disorder [RCV003932442]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000265478]|not provided [RCV002058516]likely benign|uncertain significance5150054102150054102Human1name , trait , alternate_id
11592848CV302590single nucleotide variantNM_001288705.3(CSF1R):c.2258G>A (p.Arg753Gln)CSF1R-related disorder [RCV004751491]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000342657]|not provided [RCV002058519]benign|likely benign5150057348150057348Human1name , trait , alternate_id
11593204CV302651single nucleotide variantNM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)CSF1R-related disorder [RCV003902364]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000346339]|not provided [RCV000966352]|not specified [RCV001579719]benign|likely benign|conflicting interpretations of pathogenicity5150080979150080979Human3name , trait , alternate_id
11593204CV302651single nucleotide variantNM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)CSF1R-related disorder [RCV003902364]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000346339]|not provided [RCV000966352]|not specified [RCV001579719]benign|likely benign|conflicting interpretations of pathogenicity5150080979150080980Human3name , trait , alternate_id
405228181CV3143014single nucleotide variantNM_001288705.3(CSF1R):c.1125G>A (p.Glu375=)CSF1R-related disorder [RCV003921376]|not provided [RCV003848357]benign|likely benign5150070529150070529Human1name , trait , alternate_id
405054885CV3151437single nucleotide variantNM_001288705.3(CSF1R):c.1816A>G (p.Lys606Glu)CSF1R-related disorder [RCV003984442]|not provided [RCV003849846]uncertain significance5150061533150061533Human1name , trait , alternate_id
405273749CV3198137single nucleotide variantNM_001288705.3(CSF1R):c.966A>G (p.Lys322=)CSF1R-related disorder [RCV003901908]likely benign5150073417150073417Humanname , trait , alternate_id
405268717CV3201122duplicationNM_001288705.3(CSF1R):c.306dup (p.Asp103fs)CSF1R-related disorder [RCV003899230]uncertain significance5150080767150080768Humanname , trait , alternate_id
405267120CV3202196single nucleotide variantNM_001288705.3(CSF1R):c.684C>T (p.Ser228=)CSF1R-related disorder [RCV003911665]likely benign5150078157150078157Humanname , trait , alternate_id
405294552CV3209067single nucleotide variantNM_001288705.3(CSF1R):c.1685C>G (p.Thr562Ser)CSF1R-related disorder [RCV003934498]uncertain significance5150061791150061791Humanname , trait , alternate_id
405282019CV3216213single nucleotide variantNM_001288705.3(CSF1R):c.528A>G (p.Gln176=)CSF1R-related disorder [RCV003956736]likely benign5150080116150080116Humanname , trait , alternate_id
405261341CV3221489single nucleotide variantNM_001288705.3(CSF1R):c.1647C>T (p.Arg549=)CSF1R-related disorder [RCV003966966]likely benign5150061829150061829Humanname , trait , alternate_id
408377606CV3509935single nucleotide variantNM_001288705.3(CSF1R):c.1078T>C (p.Tyr360His)CSF1R-related disorder [RCV004751112]uncertain significance5150073305150073305Humanname , trait , alternate_id
408378988CV3518060single nucleotide variantNM_001288705.3(CSF1R):c.1530G>A (p.Pro510=)CSF1R-related disorder [RCV004752535]likely benign5150068311150068311Humanname , trait , alternate_id
12743212CV361455single nucleotide variantNM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly)CSF1R-related disorder [RCV003957891]|not provided [RCV000416171]uncertain significance5150055285150055285Human1name , trait , alternate_id
8567939CV38768single nucleotide variantNM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)CSF1R-related disorder [RCV003944835]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000022687]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004795936]|not provided [RCV001090375]pathogenic|likely pathogenic5150056280150056280Human1name , trait , alternate_id
15172066CV721299single nucleotide variantNM_001288705.3(CSF1R):c.1552G>A (p.Val518Met)CSF1R-related disorder [RCV003948340]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001155614]|not provided [RCV000883769]benign5150068289150068289Human1name , trait , alternate_id
15194241CV749337single nucleotide variantNM_001288705.3(CSF1R):c.2082G>A (p.Glu694=)CSF1R-related disorder [RCV003902885]|not provided [RCV000911068]likely benign5150059750150059750Human1name , trait , alternate_id
15158802CV749341single nucleotide variantNM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly)CSF1R-related disorder [RCV003960437]|not provided [RCV000925151]benign|likely benign5150080276150080276Human1name , trait , alternate_id
28888314CV893592single nucleotide variantNM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)CSF1R-related disorder [RCV003425953]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001151728]|not provided [RCV002557274]benign|likely benign|uncertain significance5150059703150059703Human1name , trait , alternate_id
28888654CV893600single nucleotide variantNM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr)CSF1R-related disorder [RCV003953537]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001151837]|not provided [RCV001858996]likely benign5150073488150073488Human1name , trait , alternate_id
38463855CV961273single nucleotide variantNM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)CSF1R-related disorder [RCV004751942]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001249332]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003152755]|not provided [RCV001577379]pathogenic|likely pathogenic|not provided5150061584150061584Human1name , trait , alternate_id
152120015CV1547193single nucleotide variantNM_001288705.3(CSF1R):c.21G>T (p.Leu7=)not provided [RCV002154134]likely benign5150086407150086407Humanname
156040041CV2089596single nucleotide variantNM_001288705.3(CSF1R):c.24C>T (p.Leu8=)not provided [RCV002867405]likely benign5150086404150086404Humanname
127302568CV1154962single nucleotide variantNM_001288705.3(CSF1R):c.93C>T (p.Val31=)not provided [RCV001515107]benign5150080981150080981Humanname
152085297CV1617250single nucleotide variantNM_001288705.3(CSF1R):c.87G>A (p.Glu29=)not provided [RCV002076903]likely benign5150080987150080987Humanname
156065874CV1975415single nucleotide variantNM_001288705.3(CSF1R):c.72G>A (p.Glu24=)not provided [RCV002591126]likely benign5150081002150081002Humanname
11597609CV302657single nucleotide variantNM_001288705.3(CSF1R):c.84T>C (p.Pro28=)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662319]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000395882]|not provided [RCV001522249]benign5150080990150080990Human2name
15112072CV764967single nucleotide variantNM_001288705.3(CSF1R):c.42T>G (p.Ala14=)not provided [RCV000938870]likely benign5150086386150086386Humanname
152045342CV1590685single nucleotide variantNM_001288705.3(CSF1R):c.267C>T (p.Asp89=)not provided [RCV002108279]likely benign5150080807150080807Humanname
156113358CV1871185single nucleotide variantNM_001288705.3(CSF1R):c.132C>T (p.Gly44=)not provided [RCV003081140]likely benign5150080942150080942Humanname
156102021CV1907170single nucleotide variantNM_001288705.3(CSF1R):c.111G>A (p.Thr37=)not provided [RCV003080637]likely benign5150080963150080963Humanname
156209008CV1913391single nucleotide variantNM_001288705.3(CSF1R):c.234C>T (p.Asn78=)not provided [RCV002595993]likely benign5150080840150080840Humanname
156265814CV1960860single nucleotide variantNM_001288705.3(CSF1R):c.141C>T (p.Ser47=)not provided [RCV002577000]|not specified [RCV004587360]likely benign5150080933150080933Humanname
156380136CV2060725single nucleotide variantNM_001288705.3(CSF1R):c.297C>G (p.Leu99=)not provided [RCV002815025]likely benign5150080777150080777Humanname
156123847CV2088223single nucleotide variantNM_001288705.3(CSF1R):c.222T>C (p.Ala74=)not provided [RCV002871372]likely benign5150080852150080852Humanname
243051712CV2416797duplicationNM_001288705.3(CSF1R):c.69dup (p.Glu24fs)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003150922]likely pathogenic5150081004150081005Human1name
11585401CV302358single nucleotide variantNM_001288705.3(CSF1R):c.294C>T (p.His98=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000280856]|not provided [RCV001517535]|not specified [RCV001579463]benign|likely benign|conflicting interpretations of pathogenicity5150080780150080780Human1name
11587283CV302379single nucleotide variantNM_001288705.3(CSF1R):c.178C>T (p.Leu60=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000293790]|not provided [RCV000970309]benign|likely benign5150080896150080896Human1name
11588923CV302380single nucleotide variantNM_001288705.3(CSF1R):c.13G>C (p.Val5Leu)Hereditary diffuse leukoencephalopathy with spheroids [RCV000306661]likely benign|uncertain significance5150086415150086415Human1name
11587596CV302650single nucleotide variantNM_001288705.3(CSF1R):c.225C>T (p.Thr75=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000296207]|not provided [RCV002520346]benign|likely benign5150080849150080849Human1name
405137398CV3125371single nucleotide variantNM_001288705.3(CSF1R):c.186T>C (p.Ser62=)not provided [RCV003816478]likely benign5150080888150080888Humanname
405253390CV3174433single nucleotide variantNM_001288705.3(CSF1R):c.285C>T (p.Ala95=)not provided [RCV003871062]likely benign5150080789150080789Humanname
597887738CV3741936single nucleotide variantNM_001288705.3(CSF1R):c.285C>G (p.Ala95=)not provided [RCV005070656]likely benign5150080789150080789Humanname
15107065CV782221single nucleotide variantNM_001288705.3(CSF1R):c.219C>T (p.Asn73=)not provided [RCV000976748]likely benign5150080855150080855Humanname
28903061CV893606single nucleotide variantNM_001288705.3(CSF1R):c.195C>T (p.Ser65=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001157390]uncertain significance5150080879150080879Human1name
127328817CV1136673single nucleotide variantNM_001288705.3(CSF1R):c.945G>A (p.Val315=)not provided [RCV001486985]likely benign5150073438150073438Humanname
150551713CV1297529single nucleotide variantNM_001288705.3(CSF1R):c.92T>A (p.Val31Asp)not provided [RCV001767213]uncertain significance5150080982150080982Humanname
151816031CV1344391single nucleotide variantNM_001288705.3(CSF1R):c.61C>T (p.Pro21Ser)not provided [RCV001919088]uncertain significance5150081013150081013Humanname
151794162CV1348120duplicationNM_001288705.3(CSF1R):c.161dup (p.Ser55fs)not provided [RCV001876787]pathogenic|uncertain significance5150080912150080913Humanname
151874918CV1388245single nucleotide variantNM_001288705.3(CSF1R):c.948G>T (p.Gly316=)not provided [RCV001981778]likely benign|uncertain significance5150073435150073435Humanname
152075595CV1528202single nucleotide variantNM_001288705.3(CSF1R):c.846C>T (p.Asn282=)not provided [RCV002112057]likely benign5150077319150077319Humanname
152106455CV1560087single nucleotide variantNM_001288705.3(CSF1R):c.94G>A (p.Val32Met)not provided [RCV002133914]likely benign5150080980150080980Humanname
152164313CV1560599single nucleotide variantNM_001288705.3(CSF1R):c.489C>A (p.Thr163=)not provided [RCV002160221]likely benign5150080155150080155Humanname
152096507CV1565941single nucleotide variantNM_001288705.3(CSF1R):c.327C>T (p.Asn109=)not provided [RCV002094913]likely benign5150080317150080317Humanname
152138523CV1570920single nucleotide variantNM_001288705.3(CSF1R):c.759T>C (p.His253=)not provided [RCV002120038]likely benign5150077406150077406Humanname
152127465CV1572090single nucleotide variantNM_001288705.3(CSF1R):c.666C>T (p.Ile222=)not provided [RCV002217606]likely benign5150078175150078175Humanname
152151297CV1578086single nucleotide variantNM_001288705.3(CSF1R):c.942C>T (p.Thr314=)not provided [RCV002158234]benign|likely benign5150073441150073441Humanname
152144002CV1582455single nucleotide variantNM_001288705.3(CSF1R):c.366C>T (p.Asp122=)not provided [RCV002200956]likely benign5150080278150080278Humanname
152085647CV1599248single nucleotide variantNM_001288705.3(CSF1R):c.375G>A (p.Leu125=)not provided [RCV002093442]benign5150080269150080269Humanname
156409809CV1922893single nucleotide variantNM_001288705.3(CSF1R):c.864C>T (p.Ser288=)not provided [RCV002607666]benign5150077301150077301Humanname
156044359CV1977970single nucleotide variantNM_001288705.3(CSF1R):c.471G>A (p.Ser157=)not provided [RCV002590444]likely benign5150080173150080173Humanname
156322005CV1992125single nucleotide variantNM_001288705.3(CSF1R):c.927C>A (p.Leu309=)not provided [RCV002649312]likely benign5150073456150073456Humanname
156351545CV2019055single nucleotide variantNM_001288705.3(CSF1R):c.705C>A (p.Val235=)not provided [RCV002720220]likely benign|uncertain significance5150078136150078136Humanname
156046581CV2030900single nucleotide variantNM_001288705.3(CSF1R):c.945G>C (p.Val315=)not provided [RCV002736370]likely benign5150073438150073438Humanname
156118915CV2115857single nucleotide variantNM_001288705.3(CSF1R):c.462C>T (p.Tyr154=)not provided [RCV002927733]likely benign5150080182150080182Humanname
156311785CV2165486single nucleotide variantNM_001288705.3(CSF1R):c.465C>T (p.Ser155=)not provided [RCV003028624]likely benign5150080179150080179Humanname
405093512CV2947194single nucleotide variantNM_001288705.3(CSF1R):c.70G>C (p.Glu24Gln)not provided [RCV003665458]uncertain significance5150081004150081004Humanname
405202237CV2989124single nucleotide variantNM_001288705.3(CSF1R):c.41C>T (p.Ala14Val)not provided [RCV003678296]uncertain significance5150086387150086387Humanname
11583769CV302347single nucleotide variantNM_001288705.3(CSF1R):c.726C>T (p.Thr242=)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662318]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000268833]|not provided [RCV001521046]benign5150078115150078115Human2name
405201210CV3066737single nucleotide variantNM_001288705.3(CSF1R):c.396G>A (p.Pro132=)not provided [RCV003730714]likely benign5150080248150080248Humanname
405026981CV3129724single nucleotide variantNM_001288705.3(CSF1R):c.318G>A (p.Arg106=)not provided [RCV003830322]likely benign5150080326150080326Humanname
404994296CV3132564single nucleotide variantNM_001288705.3(CSF1R):c.732C>T (p.Leu244=)not provided [RCV003827503]likely benign5150077433150077433Humanname
405200633CV3143467single nucleotide variantNM_001288705.3(CSF1R):c.957C>T (p.Leu319=)not provided [RCV003844453]likely benign5150073426150073426Humanname
405219252CV3154235single nucleotide variantNM_001288705.3(CSF1R):c.963C>A (p.Leu321=)not provided [RCV003846927]likely benign5150073420150073420Humanname
405129165CV3163315single nucleotide variantNM_001288705.3(CSF1R):c.735A>G (p.Ala245=)not provided [RCV003854496]likely benign5150077430150077430Humanname
405094759CV3164199single nucleotide variantNM_001288705.3(CSF1R):c.933G>A (p.Gln311=)not provided [RCV003852514]likely benign5150073450150073450Humanname
402485939CV3171398single nucleotide variantNM_001288705.3(CSF1R):c.411C>T (p.Gly137=)not provided [RCV003876425]likely benign5150080233150080233Humanname
405252166CV3177640single nucleotide variantNM_001288705.3(CSF1R):c.369A>C (p.Ala123=)not provided [RCV003870598]likely benign5150080275150080275Humanname
597830975CV3743726single nucleotide variantNM_001288705.3(CSF1R):c.453C>T (p.His151=)not provided [RCV005062543]likely benign5150080191150080191Humanname
597874702CV3747467single nucleotide variantNM_001288705.3(CSF1R):c.795C>G (p.Leu265=)not provided [RCV005069151]likely benign5150077370150077370Humanname
597892388CV3763132single nucleotide variantNM_001288705.3(CSF1R):c.945G>T (p.Val315=)not provided [RCV005110904]likely benign5150073438150073438Humanname
597933702CV3863325single nucleotide variantNM_001288705.3(CSF1R):c.384G>A (p.Leu128=)not provided [RCV005206851]likely benign5150080260150080260Humanname
616934159CV4012173single nucleotide variantNM_001288705.3(CSF1R):c.393C>T (p.Asp131=)not specified [RCV005409207]likely benign5150080251150080251Humanname
15157478CV698919single nucleotide variantNM_001288705.3(CSF1R):c.417G>A (p.Ser139=)not provided [RCV000946891]benign5150080227150080227Humanname
15106530CV764966single nucleotide variantNM_001288705.3(CSF1R):c.456C>T (p.Thr152=)not provided [RCV000937797]likely benign5150080188150080188Humanname
15120419CV782219single nucleotide variantNM_001288705.3(CSF1R):c.483C>G (p.Gly161=)not provided [RCV000979290]likely benign5150080161150080161Humanname
15137052CV782220single nucleotide variantNM_001288705.3(CSF1R):c.348C>T (p.Val116=)not provided [RCV000982221]likely benign5150080296150080296Humanname
28892198CV893603single nucleotide variantNM_001288705.3(CSF1R):c.354C>T (p.Phe118=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001153081]uncertain significance5150080290150080290Human1name
126731233CV1000468single nucleotide variantNM_001288705.3(CSF1R):c.1974T>C (p.Pro658=)not provided [RCV001310529]likely benign5150059858150059858Humanname
126730208CV1020058single nucleotide variantNM_001288705.3(CSF1R):c.1131C>T (p.Gly377=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001333366]|not provided [RCV002070174]likely benign|uncertain significance5150070523150070523Human1name
127318121CV1154960single nucleotide variantNM_001288705.3(CSF1R):c.1872T>G (p.Ala624=)not provided [RCV001521499]benign5150060959150060959Humanname
150537022CV1314455deletionNM_001288705.3(CSF1R):c.840del (p.Ser281fs)not provided [RCV001780884]likely pathogenic5150077325150077325Humanname
151890670CV1350609single nucleotide variantNM_001288705.3(CSF1R):c.238G>T (p.Gly80Trp)not provided [RCV002038874]uncertain significance5150080836150080836Humanname
151837103CV1392124single nucleotide variantNM_001288705.3(CSF1R):c.158C>A (p.Pro53His)not provided [RCV001902413]uncertain significance5150080916150080916Humanname
151800952CV1405399single nucleotide variantNM_001288705.3(CSF1R):c.158C>T (p.Pro53Leu)not provided [RCV001899056]uncertain significance5150080916150080916Humanname
151744136CV1473045single nucleotide variantNM_001288705.3(CSF1R):c.248G>A (p.Arg83His)not provided [RCV001912221]uncertain significance5150080826150080826Humanname
151825092CV1478416single nucleotide variantNM_001288705.3(CSF1R):c.196A>G (p.Ser66Gly)not provided [RCV002030265]likely benign|uncertain significance5150080878150080878Humanname
151792337CV1490121single nucleotide variantNM_001288705.3(CSF1R):c.253A>T (p.Thr85Ser)not provided [RCV001952165]uncertain significance5150080821150080821Humanname
151819927CV1514180single nucleotide variantNM_001288705.3(CSF1R):c.187G>C (p.Asp63His)Inborn genetic diseases [RCV003355678]|not provided [RCV001934043]benign|uncertain significance5150080887150080887Human1name
152166705CV1524438single nucleotide variantNM_001288705.3(CSF1R):c.1428C>T (p.Thr476=)not provided [RCV002141980]likely benign5150069955150069955Humanname
152115656CV1540844single nucleotide variantNM_001288705.3(CSF1R):c.1617G>A (p.Lys539=)not provided [RCV002197364]likely benign5150068224150068224Humanname
152063310CV1542327single nucleotide variantNM_001288705.3(CSF1R):c.2067C>T (p.Pro689=)not provided [RCV002208967]likely benign5150059765150059765Humanname
152144538CV1543144single nucleotide variantNM_001288705.3(CSF1R):c.1563C>T (p.Ala521=)not provided [RCV002178518]likely benign5150068278150068278Humanname
152064029CV1554552single nucleotide variantNM_001288705.3(CSF1R):c.2874T>C (p.Asp958=)not provided [RCV002190894]likely benign5150054114150054114Humanname
152085248CV1555034single nucleotide variantNM_001288705.3(CSF1R):c.1317T>C (p.Asp439=)not provided [RCV002211955]likely benign5150070184150070184Humanname
152116735CV1569713single nucleotide variantNM_001288705.3(CSF1R):c.1722G>A (p.Lys574=)not provided [RCV002117292]likely benign5150061754150061754Humanname
152053996CV1574190single nucleotide variantNM_001288705.3(CSF1R):c.1236C>T (p.Asn412=)not provided [RCV002189741]likely benign5150070265150070265Humanname
152103233CV1574584single nucleotide variantNM_001288705.3(CSF1R):c.1659C>T (p.Ile553=)not provided [RCV002095803]likely benign5150061817150061817Humanname
152098436CV1578427single nucleotide variantNM_001288705.3(CSF1R):c.2436G>A (p.Lys812=)not provided [RCV002151499]benign5150056225150056225Humanname
152090371CV1581790single nucleotide variantNM_001288705.3(CSF1R):c.1800G>A (p.Thr600=)not provided [RCV002077626]likely benign5150061549150061549Humanname
152145034CV1582606single nucleotide variantNM_001288705.3(CSF1R):c.1119C>T (p.Pro373=)not provided [RCV002201107]likely benign5150070535150070535Humanname
152123089CV1587192single nucleotide variantNM_001288705.3(CSF1R):c.1449C>T (p.Tyr483=)not provided [RCV002135962]likely benign5150069934150069934Humanname
152064027CV1587980single nucleotide variantNM_001288705.3(CSF1R):c.1144C>T (p.Leu382=)not provided [RCV002090632]likely benign5150070510150070510Humanname
152132467CV1588010single nucleotide variantNM_001288705.3(CSF1R):c.2307C>T (p.Leu769=)not provided [RCV002199503]likely benign5150057299150057299Humanname
152068892CV1589104single nucleotide variantNM_001288705.3(CSF1R):c.2784C>T (p.Ser928=)not provided [RCV002209720]likely benign5150054204150054204Humanname
152046033CV1591173single nucleotide variantNM_001288705.3(CSF1R):c.2529C>T (p.Ile843=)not provided [RCV002188837]likely benign5150056051150056051Humanname
152106731CV1591779single nucleotide variantNM_001288705.3(CSF1R):c.110C>T (p.Thr37Met)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003339913]|not provided [RCV002214913]benign|conflicting interpretations of pathogenicity|uncertain significance5150080964150080964Human1name
152051254CV1596824single nucleotide variantNM_001288705.3(CSF1R):c.1983C>T (p.Val661=)not provided [RCV002166907]likely benign5150059849150059849Humanname
152175328CV1602251single nucleotide variantNM_001288705.3(CSF1R):c.1284C>T (p.Asn428=)not provided [RCV002163476]likely benign5150070217150070217Humanname
152150928CV1605513single nucleotide variantNM_001288705.3(CSF1R):c.2742C>T (p.Ala914=)not provided [RCV002102217]likely benign5150054343150054343Humanname
152149125CV1616714single nucleotide variantNM_001288705.3(CSF1R):c.1869T>C (p.His623=)not provided [RCV002201693]likely benign5150060962150060962Humanname
152070421CV1630400single nucleotide variantNM_001288705.3(CSF1R):c.1653G>A (p.Lys551=)not provided [RCV002129543]likely benign5150061823150061823Humanname
152130764CV1631014single nucleotide variantNM_001288705.3(CSF1R):c.1149C>T (p.Ala383=)not provided [RCV002119058]likely benign5150070505150070505Humanname
152077067CV1632824single nucleotide variantNM_001288705.3(CSF1R):c.2316G>A (p.Lys772=)not provided [RCV002170062]likely benign5150057290150057290Humanname
152074645CV1635284single nucleotide variantNM_001288705.3(CSF1R):c.1938C>T (p.Ile646=)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002498094]|not provided [RCV002092059]benign|likely benign5150060893150060893Human1name , alternate_id
152116536CV1643231single nucleotide variantNM_001288705.3(CSF1R):c.1965T>C (p.His655=)not provided [RCV002216209]likely benign5150060866150060866Humanname
152104384CV1645437single nucleotide variantNM_001288705.3(CSF1R):c.2706C>G (p.Thr902=)not provided [RCV002133661]likely benign5150054379150054379Humanname
152029356CV1653186single nucleotide variantNM_001288705.3(CSF1R):c.1698C>T (p.Pro566=)not provided [RCV002085776]likely benign5150061778150061778Humanname
156182491CV1884685single nucleotide variantNM_001288705.3(CSF1R):c.142G>A (p.Val48Met)not provided [RCV003083606]likely benign5150080932150080932Humanname
156416610CV1901571single nucleotide variantNM_001288705.3(CSF1R):c.1962C>A (p.Thr654=)not provided [RCV002610267]likely benign5150060869150060869Humanname
156403722CV1901758single nucleotide variantNM_001288705.3(CSF1R):c.2781G>A (p.Pro927=)not provided [RCV002585271]likely benign5150054207150054207Humanname
156193503CV1901819single nucleotide variantNM_001288705.3(CSF1R):c.2475G>A (p.Glu825=)not provided [RCV002595453]likely benign5150056105150056105Humanname
156359807CV1904278single nucleotide variantNM_001288705.3(CSF1R):c.104G>A (p.Gly35Glu)not provided [RCV002581646]uncertain significance5150080970150080970Humanname
156196253CV1912330single nucleotide variantNM_001288705.3(CSF1R):c.1594C>T (p.Leu532=)not provided [RCV002595545]likely benign5150068247150068247Humanname
156333993CV1954305single nucleotide variantNM_001288705.3(CSF1R):c.2112C>T (p.Leu704=)not provided [RCV002580154]likely benign5150059720150059720Humanname
156230773CV1959166single nucleotide variantNM_001288705.3(CSF1R):c.2557C>T (p.Leu853=)not provided [RCV002596800]likely benign5150055334150055334Humanname
156205887CV1959279single nucleotide variantNM_001288705.3(CSF1R):c.1764C>T (p.Leu588=)not provided [RCV002574955]likely benign5150061585150061585Humanname
156407275CV1960530single nucleotide variantNM_001288705.3(CSF1R):c.1308C>A (p.Gly436=)not provided [RCV002586179]likely benign5150070193150070193Humanname
156350220CV1965353single nucleotide variantNM_001288705.3(CSF1R):c.1896C>T (p.Ser632=)not provided [RCV002581004]likely benign5150060935150060935Humanname
156320507CV1968499single nucleotide variantNM_001288705.3(CSF1R):c.2079C>T (p.Pro693=)not provided [RCV002630310]likely benign5150059753150059753Humanname
156341246CV1984913single nucleotide variantNM_001288705.3(CSF1R):c.141C>A (p.Ser47Arg)not provided [RCV002631442]uncertain significance5150080933150080933Humanname
156013867CV1986166single nucleotide variantNM_001288705.3(CSF1R):c.2244G>C (p.Arg748=)not provided [RCV002636364]likely benign5150057362150057362Humanname
156402884CV1992902single nucleotide variantNM_001288705.3(CSF1R):c.1749G>A (p.Gln583=)not provided [RCV002657736]likely benign5150061727150061727Humanname
156239892CV1996322single nucleotide variantNM_001288705.3(CSF1R):c.1314T>G (p.Thr438=)not provided [RCV002667893]likely benign5150070187150070187Humanname
156097724CV2004737single nucleotide variantNM_001288705.3(CSF1R):c.1701G>T (p.Thr567=)not provided [RCV002639462]likely benign5150061775150061775Humanname
156219292CV2028823single nucleotide variantNM_001288705.3(CSF1R):c.2865G>A (p.Glu955=)not provided [RCV002712077]likely benign5150054123150054123Humanname
156010625CV2039188single nucleotide variantNM_001288705.3(CSF1R):c.1470C>T (p.Ser490=)not provided [RCV002795081]likely benign5150069913150069913Humanname
155937352CV2045054single nucleotide variantNM_001288705.3(CSF1R):c.2169T>C (p.Tyr723=)not provided [RCV002774967]likely benign5150057556150057556Humanname
156247172CV2086261single nucleotide variantNM_001288705.3(CSF1R):c.1512A>G (p.Gly504=)not provided [RCV002876811]likely benign5150068329150068329Humanname
156343309CV2099758single nucleotide variantNM_001288705.3(CSF1R):c.2376C>G (p.Ala792=)not provided [RCV002900602]likely benign5150056285150056285Humanname
156384890CV2128354single nucleotide variantNM_001288705.3(CSF1R):c.1948C>T (p.Leu650=)not provided [RCV002943415]likely benign5150060883150060883Humanname
156129667CV2151843single nucleotide variantNM_001288705.3(CSF1R):c.2778G>A (p.Leu926=)not provided [RCV003003308]likely benign5150054210150054210Humanname
156351828CV2157598single nucleotide variantNM_001288705.3(CSF1R):c.2472A>C (p.Pro824=)not provided [RCV003030931]likely benign5150056108150056108Humanname
156195753CV2171535single nucleotide variantNM_001288705.3(CSF1R):c.272T>G (p.Leu91Arg)not provided [RCV003024281]likely benign5150080802150080802Humanname
156344448CV2176222single nucleotide variantNM_001288705.3(CSF1R):c.289A>G (p.Ile97Val)not provided [RCV003030479]uncertain significance5150080785150080785Humanname
156254114CV2209617deletionNM_001288705.3(CSF1R):c.554del (p.Lys185fs)Inborn genetic diseases [RCV002702625]pathogenic5150080090150080090Human1name
156252268CV2268382single nucleotide variantNM_001288705.3(CSF1R):c.122G>A (p.Arg41Gln)Inborn genetic diseases [RCV002831198]|not provided [RCV003777828]uncertain significance5150080952150080952Human1name
156207459CV2307948single nucleotide variantNM_001288705.3(CSF1R):c.223A>G (p.Thr75Ala)Inborn genetic diseases [RCV002893544]uncertain significance5150080851150080851Human1name
401889562CV2756561single nucleotide variantNM_001288705.3(CSF1R):c.258G>T (p.Glu86Asp)Inborn genetic diseases [RCV003353912]|not provided [RCV003575080]likely benign|uncertain significance5150080816150080816Human1name
401918004CV2825395single nucleotide variantNM_001288705.3(CSF1R):c.2319T>C (p.Asn773=)not provided [RCV003429882]likely benign5150057287150057287Humanname
401918006CV2825396single nucleotide variantNM_001288705.3(CSF1R):c.2058C>T (p.Ser686=)not provided [RCV003429883]likely benign5150059774150059774Humanname
405168929CV2854106single nucleotide variantNM_001288705.3(CSF1R):c.1185G>A (p.Glu395=)not provided [RCV003542009]likely benign5150070469150070469Humanname
405045209CV2859893single nucleotide variantNM_001288705.3(CSF1R):c.173G>A (p.Trp58Ter)not provided [RCV003579401]pathogenic5150080901150080901Humanname
405239090CV2885923single nucleotide variantNM_001288705.3(CSF1R):c.149G>T (p.Trp50Leu)not provided [RCV003556976]likely benign5150080925150080925Humanname
405224291CV2891303single nucleotide variantNM_001288705.3(CSF1R):c.2736G>A (p.Glu912=)not provided [RCV003554243]likely benign5150054349150054349Humanname
405176947CV2915815single nucleotide variantNM_001288705.3(CSF1R):c.1074C>T (p.Asp358=)not provided [RCV003563620]likely benign5150073309150073309Humanname
402507253CV2924212single nucleotide variantNM_001288705.3(CSF1R):c.1422T>C (p.Val474=)not provided [RCV003574583]likely benign5150069961150069961Humanname
405124015CV2942636single nucleotide variantNM_001288705.3(CSF1R):c.1935C>T (p.Asn645=)not provided [RCV003671774]likely benign5150060896150060896Humanname
405152086CV2949184single nucleotide variantNM_001288705.3(CSF1R):c.1195C>A (p.Arg399=)not provided [RCV003674084]likely benign5150070459150070459Humanname
405148240CV2962759single nucleotide variantNM_001288705.3(CSF1R):c.2643C>T (p.Ala881=)not provided [RCV003673711]likely benign5150055248150055248Humanname
11595381CV296378single nucleotide variantNM_001288705.3(CSF1R):c.1716C>T (p.Asn572=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000370032]|not provided [RCV002520341]likely benign|uncertain significance5150061760150061760Human1name
405226207CV2967041single nucleotide variantNM_001288705.3(CSF1R):c.236C>T (p.Thr79Met)not provided [RCV003681464]uncertain significance5150080838150080838Humanname
11590256CV298210single nucleotide variantNM_001288705.3(CSF1R):c.2796C>T (p.Ser932=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000317297]|not provided [RCV002061266]likely benign|uncertain significance5150054192150054192Human1name
11596408CV298215single nucleotide variantNM_001288705.3(CSF1R):c.2508C>T (p.Ser836=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000382166]|not provided [RCV002058517]likely benign5150056072150056072Human1name
11592467CV298220single nucleotide variantNM_001288705.3(CSF1R):c.2166C>T (p.Thr722=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000339191]|not provided [RCV002058520]benign|likely benign5150057559150057559Human1name
11586298CV298227single nucleotide variantNM_001288705.3(CSF1R):c.1404G>A (p.Val468=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000286861]|not provided [RCV002061268]benign|likely benign5150069979150069979Human1name
11595560CV298242single nucleotide variantNM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000371986]|not provided [RCV000889595]benign|likely benign5150080806150080806Human1name
11593664CV298245single nucleotide variantNM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile)Hereditary diffuse leukoencephalopathy with spheroids [RCV000351143]|not provided [RCV000890096]benign|likely benign5150080850150080850Human1name
402518840CV3002305single nucleotide variantNM_001288705.3(CSF1R):c.1560C>A (p.Val520=)not provided [RCV003690136]likely benign5150068281150068281Humanname
402495901CV3005783single nucleotide variantNM_001288705.3(CSF1R):c.2823G>A (p.Glu941=)not provided [RCV003688008]likely benign5150054165150054165Humanname
11593177CV302319single nucleotide variantNM_001288705.3(CSF1R):c.2535C>G (p.Leu845=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000346258]|not provided [RCV001513633]benign|likely benign|conflicting interpretations of pathogenicity5150056045150056045Human1name
11586400CV302321single nucleotide variantNM_001288705.3(CSF1R):c.2499G>A (p.Thr833=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000287774]|not provided [RCV002058518]benign|likely benign5150056081150056081Human1name
11592432CV302326single nucleotide variantNM_001288705.3(CSF1R):c.1179G>A (p.Thr393=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000338738]|not provided [RCV001579847]likely benign|uncertain significance5150070475150070475Human1name
11594204CV302587single nucleotide variantNM_001288705.3(CSF1R):c.2805C>T (p.Ser935=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000356906]|not provided [RCV000894549]benign|likely benign5150054183150054183Human1name
11584652CV302618single nucleotide variantNM_001288705.3(CSF1R):c.1701G>A (p.Thr567=)Hereditary diffuse leukoencephalopathy with spheroids [RCV000275379]|not provided [RCV000921039]benign|likely benign5150061775150061775Human1name
405138951CV3029633single nucleotide variantNM_001288705.3(CSF1R):c.1371C>G (p.Val457=)not provided [RCV003702344]likely benign5150070012150070012Humanname
405220790CV3032218single nucleotide variantNM_001288705.3(CSF1R):c.2376C>T (p.Ala792=)not provided [RCV003709938]likely benign5150056285150056285Humanname
405205398CV3033539single nucleotide variantNM_001288705.3(CSF1R):c.1233C>T (p.Ile411=)not provided [RCV003707850]likely benign5150070268150070268Humanname
402500984CV3035391single nucleotide variantNM_001288705.3(CSF1R):c.2199A>G (p.Ser733=)not provided [RCV003714734]likely benign5150057526150057526Humanname
405182186CV3057441single nucleotide variantNM_001288705.3(CSF1R):c.1302C>T (p.Cys434=)not provided [RCV003728894]likely benign5150070199150070199Humanname
405186847CV3058846single nucleotide variantNM_001288705.3(CSF1R):c.2511C>T (p.Asp837=)not provided [RCV003729346]likely benign5150056069150056069Humanname
405210722CV3059031single nucleotide variantNM_001288705.3(CSF1R):c.2263C>T (p.Leu755=)not provided [RCV003731967]likely benign5150057343150057343Humanname
405177074CV3119362single nucleotide variantNM_001288705.3(CSF1R):c.1440C>T (p.Asn480=)not provided [RCV003819647]likely benign5150069943150069943Humanname
405169615CV3122418single nucleotide variantNM_001288705.3(CSF1R):c.2262C>T (p.Asp754=)not provided [RCV003819007]likely benign5150057344150057344Humanname
405159121CV3124916single nucleotide variantNM_001288705.3(CSF1R):c.286G>A (p.Ala96Thr)not provided [RCV003818187]uncertain significance5150080788150080788Humanname
405142109CV3125956single nucleotide variantNM_001288705.3(CSF1R):c.1572C>T (p.Ser524=)not provided [RCV003816872]likely benign5150068269150068269Humanname
405127631CV3132766single nucleotide variantNM_001288705.3(CSF1R):c.2172G>A (p.Val724=)not provided [RCV003837929]benign5150057553150057553Humanname
405055416CV3138554single nucleotide variantNM_001288705.3(CSF1R):c.2847G>A (p.Glu949=)not provided [RCV003832399]likely benign5150054141150054141Humanname
405020350CV3139138single nucleotide variantNM_001288705.3(CSF1R):c.1077A>G (p.Thr359=)not provided [RCV003829780]likely benign|uncertain significance5150073306150073306Humanname
405225146CV3142308single nucleotide variantNM_001288705.3(CSF1R):c.1680T>C (p.Ser560=)not provided [RCV003847847]likely benign5150061796150061796Humanname
405230371CV3180909single nucleotide variantNM_001288705.3(CSF1R):c.1509A>C (p.Ala503=)not provided [RCV003865147]uncertain significance5150069874150069874Humanname
404985430CV3183772single nucleotide variantNM_001288705.3(CSF1R):c.2887T>C (p.Leu963=)not provided [RCV003881049]likely benign5150054101150054101Humanname
405677127CV3235976single nucleotide variantNM_001288705.3(CSF1R):c.145G>A (p.Glu49Lys)Inborn genetic diseases [RCV004370317]uncertain significance5150080929150080929Human1name
405873442CV3398561single nucleotide variantNM_001288705.3(CSF1R):c.254C>T (p.Thr85Ile)not provided [RCV004576057]uncertain significance5150080820150080820Humanname
597665043CV3654410single nucleotide variantNM_001288705.3(CSF1R):c.229C>G (p.Gln77Glu)Inborn genetic diseases [RCV004979247]uncertain significance5150080845150080845Human1name
597905211CV3738326single nucleotide variantNM_001288705.3(CSF1R):c.1020A>T (p.Gly340=)not provided [RCV005072748]likely benign5150073363150073363Humanname
597932209CV3742623single nucleotide variantNM_001288705.3(CSF1R):c.2190C>T (p.Ser730=)not provided [RCV005076062]likely benign5150057535150057535Humanname
597933209CV3742760single nucleotide variantNM_001288705.3(CSF1R):c.1797C>T (p.Ala599=)not provided [RCV005076199]likely benign5150061552150061552Humanname
597881439CV3744841single nucleotide variantNM_001288705.3(CSF1R):c.2766C>T (p.Asp922=)not provided [RCV005069866]likely benign5150054222150054222Humanname
597964777CV3751008single nucleotide variantNM_001288705.3(CSF1R):c.172T>C (p.Trp58Arg)not provided [RCV005082570]uncertain significance5150080902150080902Humanname
597832909CV3760335single nucleotide variantNM_001288705.3(CSF1R):c.2478C>T (p.Ser826=)not provided [RCV005085078]likely benign5150056102150056102Humanname
597964625CV3792220single nucleotide variantNM_001288705.3(CSF1R):c.1215C>T (p.Ser405=)not provided [RCV005139778]likely benign5150070286150070286Humanname
597961073CV3794812single nucleotide variantNM_001288705.3(CSF1R):c.2016C>T (p.Leu672=)not provided [RCV005138717]likely benign5150059816150059816Humanname
597968502CV3820940single nucleotide variantNM_001288705.3(CSF1R):c.1248C>T (p.Thr416=)not provided [RCV005165781]likely benign5150070253150070253Humanname
597840910CV3825369single nucleotide variantNM_001288705.3(CSF1R):c.1932G>A (p.Glu644=)not provided [RCV005172052]likely benign5150060899150060899Humanname
597971764CV3833048single nucleotide variantNM_001288705.3(CSF1R):c.2661C>T (p.Ser887=)not provided [RCV005166945]likely benign5150054424150054424Humanname
597930856CV3837626single nucleotide variantNM_001288705.3(CSF1R):c.1401G>A (p.Thr467=)not provided [RCV005185786]likely benign5150069982150069982Humanname
597949275CV3848874single nucleotide variantNM_001288705.3(CSF1R):c.1989G>A (p.Thr663=)not provided [RCV005189812]likely benign5150059843150059843Humanname
597907927CV3853640single nucleotide variantNM_001288705.3(CSF1R):c.1101T>C (p.Ser367=)not provided [RCV005203122]likely benign5150070553150070553Humanname
598260796CV3963144single nucleotide variantNM_001288705.3(CSF1R):c.161C>G (p.Pro54Arg)Inborn genetic diseases [RCV005325044]uncertain significance5150080913150080913Human1name
598260811CV3963147single nucleotide variantNM_001288705.3(CSF1R):c.263G>A (p.Gly88Glu)Inborn genetic diseases [RCV005325047]uncertain significance5150080811150080811Human1name
598260815CV3963148single nucleotide variantNM_001288705.3(CSF1R):c.187G>T (p.Asp63Tyr)Inborn genetic diseases [RCV005325048]uncertain significance5150080887150080887Human1name
13519272CV486381single nucleotide variantNM_001288705.3(CSF1R):c.1056T>C (p.Ala352=)not provided [RCV000585523]conflicting interpretations of pathogenicity|uncertain significance5150073327150073327Humanname
13539459CV501043single nucleotide variantNM_001288705.3(CSF1R):c.2460G>A (p.Lys820=)not provided [RCV002064300]|not specified [RCV000613310]likely benign5150056120150056120Humanname
15184970CV721296single nucleotide variantNM_001288705.3(CSF1R):c.2841T>C (p.Ser947=)not provided [RCV000886570]benign5150054147150054147Humanname
15110911CV721297single nucleotide variantNM_001288705.3(CSF1R):c.2829G>A (p.Glu943=)not provided [RCV000894164]likely benign5150054159150054159Humanname
15148304CV734933single nucleotide variantNM_001288705.3(CSF1R):c.1515C>T (p.Ala505=)not provided [RCV000900691]likely benign5150068326150068326Humanname
15167178CV749336single nucleotide variantNM_001288705.3(CSF1R):c.2658C>T (p.Tyr886=)not provided [RCV000927033]likely benign5150054427150054427Humanname
15199542CV764964single nucleotide variantNM_001288705.3(CSF1R):c.2664C>A (p.Ile888=)not provided [RCV000935135]likely benign5150054421150054421Humanname
15136974CV764965single nucleotide variantNM_001288705.3(CSF1R):c.2349C>T (p.Asn783=)not provided [RCV000943162]likely benign5150056312150056312Humanname
28888309CV893591single nucleotide variantNM_001288705.3(CSF1R):c.2136C>T (p.Asp712=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001151727]uncertain significance5150057589150057589Human1name
28891905CV893593single nucleotide variantNM_001288705.3(CSF1R):c.1728G>A (p.Glu576=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001152969]|not provided [RCV003546660]benign5150061748150061748Human1name
28898867CV893594single nucleotide variantNM_001288705.3(CSF1R):c.1587G>A (p.Leu529=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001155612]|not provided [RCV002557329]likely benign5150068254150068254Human1name
28898872CV893595single nucleotide variantNM_001288705.3(CSF1R):c.1560C>T (p.Val520=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001155613]|not provided [RCV002070911]likely benign|uncertain significance5150068281150068281Human1name
28898878CV893596single nucleotide variantNM_001288705.3(CSF1R):c.1518C>T (p.His506=)Hereditary diffuse leukoencephalopathy with spheroids [RCV001155615]uncertain significance5150068323150068323Human1name
150428590CV1186887single nucleotide variantNM_001288705.3(CSF1R):c.601G>C (p.Gly201Arg)not provided [RCV001562456]conflicting interpretations of pathogenicity|uncertain significance5150078240150078240Humanname
8655082CV125917duplicationNM_001288705.3(CSF1R):c.2060dup (p.Ser688fs)Hereditary diffuse leukoencephalopathy with spheroids [RCV000106403]pathogenic5150059771150059772Human1name
150550315CV1300181single nucleotide variantNM_001288705.3(CSF1R):c.631G>A (p.Glu211Lys)not provided [RCV001765651]uncertain significance5150078210150078210Humanname
150537023CV1314456single nucleotide variantNM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989027]likely pathogenic5150077337150077337Human1name
151235548CV1318884single nucleotide variantNM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)Inborn genetic diseases [RCV004040850]|not provided [RCV001795700]conflicting interpretations of pathogenicity|uncertain significance5150078137150078137Human1name
151662445CV1333119single nucleotide variantNM_001288705.3(CSF1R):c.410G>T (p.Gly137Val)Hereditary diffuse leukoencephalopathy with spheroids [RCV001837352]uncertain significance5150080234150080234Human1name
151753787CV1342990single nucleotide variantNM_001288705.3(CSF1R):c.448C>T (p.Arg150Cys)not provided [RCV002043555]likely benign|uncertain significance5150080196150080196Humanname
151863323CV1353637single nucleotide variantNM_001288705.3(CSF1R):c.358G>A (p.Asp120Asn)not provided [RCV001924290]uncertain significance5150080286150080286Humanname
151861961CV1353946single nucleotide variantNM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002497904]|not provided [RCV001959331]likely benign|uncertain significance5150078185150078185Human1name , alternate_id
151730840CV1355393single nucleotide variantNM_001288705.3(CSF1R):c.356A>G (p.Glu119Gly)not provided [RCV001984187]uncertain significance5150080288150080288Humanname
151724454CV1369840single nucleotide variantNM_001288705.3(CSF1R):c.807T>A (p.Asp269Glu)not provided [RCV001945342]likely benign|uncertain significance5150077358150077358Humanname
151750837CV1370547single nucleotide variantNM_001288705.3(CSF1R):c.431G>A (p.Arg144His)not provided [RCV001872238]likely benign|uncertain significance5150080213150080213Humanname
151889746CV1394566single nucleotide variantNM_001288705.3(CSF1R):c.871A>G (p.Met291Val)not provided [RCV001888247]uncertain significance5150077294150077294Humanname
151764689CV1407702single nucleotide variantNM_001288705.3(CSF1R):c.344T>C (p.Val115Ala)not provided [RCV002044660]uncertain significance5150080300150080300Humanname
151809663CV1417258single nucleotide variantNM_001288705.3(CSF1R):c.533G>A (p.Ser178Asn)not provided [RCV002028845]uncertain significance5150080111150080111Humanname
151872081CV1437246single nucleotide variantNM_001288705.3(CSF1R):c.880C>T (p.Arg294Trp)not provided [RCV002035805]likely benign|uncertain significance5150077285150077285Humanname
151825658CV1447077single nucleotide variantNM_001288705.3(CSF1R):c.550A>G (p.Arg184Gly)Inborn genetic diseases [RCV004039576]|not provided [RCV001870039]likely benign|uncertain significance5150080094150080094Human1name
151877145CV1460144single nucleotide variantNM_001288705.3(CSF1R):c.331C>A (p.Leu111Ile)not provided [RCV002036395]likely benign|uncertain significance5150080313150080313Humanname
151877022CV1461487single nucleotide variantNM_001288705.3(CSF1R):c.643A>G (p.Ile215Val)not provided [RCV001925947]uncertain significance5150078198150078198Humanname
151873707CV1488076deletionNM_001288705.3(CSF1R):c.1276del (p.Gln426fs)not provided [RCV001981628]pathogenic|uncertain significance5150070225150070225Humanname
151760899CV1497328single nucleotide variantNM_001288705.3(CSF1R):c.946G>C (p.Gly316Arg)not provided [RCV001987257]uncertain significance5150073437150073437Humanname
151798429CV1503934single nucleotide variantNM_001288705.3(CSF1R):c.412G>A (p.Val138Ile)not provided [RCV001973684]uncertain significance5150080232150080232Humanname
151855596CV1506779single nucleotide variantNM_001288705.3(CSF1R):c.629C>A (p.Ala210Glu)not provided [RCV001937909]likely benign|uncertain significance5150078212150078212Humanname
151825690CV1507169single nucleotide variantNM_001288705.3(CSF1R):c.575G>A (p.Arg192Gln)not provided [RCV001955191]likely benign|uncertain significance5150080069150080069Humanname
152142106CV1533080single nucleotide variantNM_001288705.3(CSF1R):c.317G>A (p.Arg106Gln)Inborn genetic diseases [RCV002552987]|not provided [RCV002156908]likely benign|uncertain significance5150080327150080327Human1name
152063071CV1587705single nucleotide variantNM_001288705.3(CSF1R):c.796G>A (p.Asp266Asn)Inborn genetic diseases [RCV003007041]|not provided [RCV002090497]likely benign|uncertain significance5150077369150077369Human1name
152047103CV1600500single nucleotide variantNM_001288705.3(CSF1R):c.544G>T (p.Gly182Cys)not provided [RCV002088675]likely benign5150080100150080100Humanname
152161886CV1608663single nucleotide variantNM_001288705.3(CSF1R):c.314C>T (p.Ala105Val)not provided [RCV002103955]likely benign5150080330150080330Humanname
152113966CV1659550single nucleotide variantNM_001288705.3(CSF1R):c.685G>A (p.Val229Ile)not provided [RCV002080636]likely benign5150078156150078156Humanname
152981237CV1676706single nucleotide variantNM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln)Hereditary diffuse leukoencephalopathy with spheroids [RCV002247770]uncertain significance5150077276150077276Human1name
9687355CV171845deletionNM_001288705.3(CSF1R):c.1699del (p.Thr567fs)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149521]pathogenic|not provided5150061777150061777Human1name
155748733CV1772264single nucleotide variantNM_001288705.3(CSF1R):c.997G>C (p.Gly333Arg)not provided [RCV002303856]uncertain significance5150073386150073386Humanname
155748907CV1772537single nucleotide variantNM_001288705.3(CSF1R):c.668T>G (p.Val223Gly)not provided [RCV002304048]uncertain significance5150078173150078173Humanname
155703571CV1773876single nucleotide variantNM_001288705.3(CSF1R):c.919C>G (p.Gln307Glu)not provided [RCV002295732]uncertain significance5150073464150073464Humanname
156304831CV1868064single nucleotide variantNM_001288705.3(CSF1R):c.722A>C (p.Asn241Thr)not provided [RCV003062133]benign5150078119150078119Humanname
156402907CV1988807single nucleotide variantNM_001288705.3(CSF1R):c.599C>T (p.Pro200Leu)not provided [RCV002605797]uncertain significance5150078242150078242Humanname
156194820CV1994844single nucleotide variantNM_001288705.3(CSF1R):c.847G>A (p.Val283Met)not provided [RCV002643429]uncertain significance5150077318150077318Humanname
156094784CV2004512single nucleotide variantNM_001288705.3(CSF1R):c.974T>G (p.Val325Gly)not provided [RCV002639354]uncertain significance5150073409150073409Humanname
156364489CV2013865single nucleotide variantNM_001288705.3(CSF1R):c.785C>A (p.Thr262Asn)not provided [RCV002721089]uncertain significance5150077380150077380Humanname
155947300CV2077258single nucleotide variantNM_001288705.3(CSF1R):c.834C>A (p.Cys278Ter)not provided [RCV002880295]pathogenic5150077331150077331Humanname
156138536CV2082172single nucleotide variantNM_001288705.3(CSF1R):c.368C>T (p.Ala123Val)not provided [RCV002871898]uncertain significance5150080276150080276Humanname
156189802CV2160779single nucleotide variantNM_001288705.3(CSF1R):c.958A>G (p.Asn320Asp)not provided [RCV003024094]uncertain significance5150073425150073425Humanname
156098041CV2163522single nucleotide variantNM_001288705.3(CSF1R):c.455C>T (p.Thr152Ile)not provided [RCV003038470]uncertain significance5150080189150080189Humanname
156361851CV2180454single nucleotide variantNM_001288705.3(CSF1R):c.700G>A (p.Asp234Asn)not provided [RCV003049079]uncertain significance5150078141150078141Humanname
155960353CV2183415single nucleotide variantNM_001288705.3(CSF1R):c.542T>G (p.Met181Arg)not provided [RCV003032907]uncertain significance5150080102150080102Humanname
156128101CV2184846single nucleotide variantNM_001288705.3(CSF1R):c.698T>A (p.Phe233Tyr)not provided [RCV003039587]uncertain significance5150078143150078143Humanname
156142450CV2189912single nucleotide variantNM_001288705.3(CSF1R):c.941C>T (p.Thr314Ile)not provided [RCV003056234]uncertain significance5150073442150073442Humanname
156326413CV2209696single nucleotide variantNM_001288705.3(CSF1R):c.436C>T (p.Arg146Trp)Inborn genetic diseases [RCV002717465]uncertain significance5150080208150080208Human1name
156255560CV2219674single nucleotide variantNM_001288705.3(CSF1R):c.668T>C (p.Val223Ala)Inborn genetic diseases [RCV002702709]|not provided [RCV005059227]uncertain significance5150078173150078173Human1name
156273772CV2293646single nucleotide variantNM_001288705.3(CSF1R):c.328G>A (p.Val110Met)Inborn genetic diseases [RCV002896071]uncertain significance5150080316150080316Human1name
156003270CV2347769single nucleotide variantNM_001288705.3(CSF1R):c.458A>G (p.Asn153Ser)Inborn genetic diseases [RCV002997167]|not provided [RCV003778530]uncertain significance5150080186150080186Human1name
243051075CV2415686single nucleotide variantNM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148292]uncertain significance5150077425150077425Human1name
243051121CV2415709single nucleotide variantNM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148316]uncertain significance5150078237150078237Human1name
401760165CV2718738single nucleotide variantNM_001288705.3(CSF1R):c.473C>T (p.Pro158Leu)Inborn genetic diseases [RCV003299437]uncertain significance5150080171150080171Human1name
401732352CV2736701single nucleotide variantNM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)Inborn genetic diseases [RCV004333264]|not provided [RCV003313463]likely benign|conflicting interpretations of pathogenicity|uncertain significance5150080157150080157Human1name
401918008CV2825397single nucleotide variantNM_001288705.3(CSF1R):c.521A>T (p.Asp174Val)not provided [RCV003429884]uncertain significance5150080123150080123Humanname
405052711CV2893672single nucleotide variantNM_001288705.3(CSF1R):c.980C>T (p.Ala327Val)not provided [RCV003579905]uncertain significance5150073403150073403Humanname
405222390CV2908399single nucleotide variantNM_001288705.3(CSF1R):c.326A>G (p.Asn109Ser)not provided [RCV003568633]uncertain significance5150080318150080318Humanname
405192600CV2928219duplicationNM_001288705.3(CSF1R):c.2056dup (p.Ser686fs)not provided [RCV003564993]pathogenic5150059775150059776Humanname
405145557CV2949899deletionNM_001288705.3(CSF1R):c.1047del (p.Lys350fs)not provided [RCV003669641]pathogenic5150073336150073336Humanname
11590919CV296400single nucleotide variantNM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000323908]|not provided [RCV000966972]benign|likely benign5150078120150078120Human1name
11594797CV298234single nucleotide variantNM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000363317]|not provided [RCV001850861]benign|likely benign|uncertain significance5150077432150077432Human1name
402483083CV2997989single nucleotide variantNM_001288705.3(CSF1R):c.666C>G (p.Ile222Met)not provided [RCV003686780]likely benign5150078175150078175Humanname
11589132CV302340single nucleotide variantNM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV000308564]|not provided [RCV000946890]benign5150077432150077432Human1name
11583260CV302628single nucleotide variantNM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000265552]|Inborn genetic diseases [RCV002520344]|not provided [RCV000998471]uncertain significance5150080126150080126Human2name
11590598CV302633single nucleotide variantNM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000320554]|Inborn genetic diseases [RCV002520345]|not provided [RCV000913539]likely benign|conflicting interpretations of pathogenicity|uncertain significance5150080328150080328Human2name
405061427CV3030072single nucleotide variantNM_001288705.3(CSF1R):c.929T>A (p.Ile310Asn)not provided [RCV003697714]uncertain significance5150073454150073454Humanname
405077023CV3031723single nucleotide variantNM_001288705.3(CSF1R):c.394C>G (p.Pro132Ala)not provided [RCV003698660]likely benign5150080250150080250Humanname
405002826CV3120686single nucleotide variantNM_001288705.3(CSF1R):c.310C>T (p.Pro104Ser)not provided [RCV003828289]uncertain significance5150080334150080334Humanname
405123438CV3126348single nucleotide variantNM_001288705.3(CSF1R):c.934G>A (p.Glu312Lys)not provided [RCV003815100]uncertain significance5150073449150073449Humanname
405197027CV3146692single nucleotide variantNM_001288705.3(CSF1R):c.626C>T (p.Pro209Leu)not provided [RCV003844047]uncertain significance5150078215150078215Humanname
405220006CV3157700single nucleotide variantNM_001288705.3(CSF1R):c.767G>A (p.Arg256His)not provided [RCV003863392]likely benign5150077398150077398Humanname
405221852CV3158129single nucleotide variantNM_001288705.3(CSF1R):c.362A>G (p.Gln121Arg)not provided [RCV003863624]likely benign5150080282150080282Humanname
405244533CV3161491single nucleotide variantNM_001288705.3(CSF1R):c.896C>T (p.Ala299Val)Inborn genetic diseases [RCV005323610]|not provided [RCV003868203]uncertain significance5150073487150073487Human1name
405242926CV3164668single nucleotide variantNM_001288705.3(CSF1R):c.535G>A (p.Ala179Thr)not provided [RCV003867749]uncertain significance5150080109150080109Humanname
405205639CV3165705deletionNM_001288705.3(CSF1R):c.2117del (p.Lys706fs)not provided [RCV003861371]pathogenic5150059715150059715Humanname
405224075CV3168802single nucleotide variantNM_001288705.3(CSF1R):c.670T>A (p.Cys224Ser)not provided [RCV003864017]uncertain significance5150078171150078171Humanname
405267537CV3186853single nucleotide variantNM_001288705.3(CSF1R):c.797A>G (p.Asp266Gly)not provided [RCV003886936]uncertain significance5150077368150077368Humanname
407496510CV3496633single nucleotide variantNM_001288705.3(CSF1R):c.979G>T (p.Ala327Ser)not provided [RCV004696834]uncertain significance5150073404150073404Humanname
408386196CV3528815single nucleotide variantNM_001288705.3(CSF1R):c.689A>G (p.Asp230Gly)not provided [RCV004772648]uncertain significance5150078152150078152Humanname
596930291CV3531451single nucleotide variantNM_001288705.3(CSF1R):c.846C>A (p.Asn282Lys)not provided [RCV004780025]uncertain significance5150077319150077319Humanname
12739074CV360868single nucleotide variantNM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln)Inborn genetic diseases [RCV002521451]|Parkinsonian disorder [RCV000415068]|not provided [RCV005055952]likely benign|uncertain significance5150078194150078194Human3name
12836942CV363152single nucleotide variantNM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser)Hematologic neoplasm [RCV000441113]|Neoplasm [RCV000424293]likely pathogenic5150073481150073481Human2name
12842501CV363153single nucleotide variantNM_001288705.3(CSF1R):c.902T>A (p.Leu301Ter)Neoplasm [RCV000434527]likely pathogenic5150073481150073481Human1name
12841675CV363582single nucleotide variantNM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe)Hematologic neoplasm [RCV000432996]likely pathogenic5150073480150073480Human1name
597665021CV3654407single nucleotide variantNM_001288705.3(CSF1R):c.659C>T (p.Ala220Val)Inborn genetic diseases [RCV004979244]|not provided [RCV005061688]likely benign|uncertain significance5150078182150078182Human1name
597665027CV3654408single nucleotide variantNM_001288705.3(CSF1R):c.357G>C (p.Glu119Asp)Inborn genetic diseases [RCV004979245]uncertain significance5150080287150080287Human1name
597718308CV3725052single nucleotide variantNM_001288705.3(CSF1R):c.719A>G (p.Asn240Ser)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005035391]uncertain significance5150078122150078122Human1name , alternate_id
597960387CV3756195single nucleotide variantNM_001288705.3(CSF1R):c.425G>A (p.Arg142His)not provided [RCV005081512]uncertain significance5150080219150080219Humanname
597851340CV3761887single nucleotide variantNM_001288705.3(CSF1R):c.649G>A (p.Gly217Arg)not provided [RCV005087984]uncertain significance5150078192150078192Humanname
597913613CV3771008single nucleotide variantNM_001288705.3(CSF1R):c.829T>G (p.Ser277Ala)not provided [RCV005114127]uncertain significance5150077336150077336Humanname
597913624CV3771009single nucleotide variantNM_001288705.3(CSF1R):c.805G>T (p.Asp269Tyr)not provided [RCV005114128]uncertain significance5150077360150077360Humanname
597913634CV3771010single nucleotide variantNM_001288705.3(CSF1R):c.792C>A (p.Asn264Lys)not provided [RCV005114129]uncertain significance5150077373150077373Humanname
597972263CV3829544single nucleotide variantNM_001288705.3(CSF1R):c.967G>A (p.Val323Ile)not provided [RCV005167331]uncertain significance5150073416150073416Humanname
598218613CV3895528single nucleotide variantNM_001288705.3(CSF1R):c.931C>T (p.Gln311Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005360387]likely pathogenic5150073452150073452Human1name , alternate_id
598260794CV3963143single nucleotide variantNM_001288705.3(CSF1R):c.567C>G (p.Ile189Met)Inborn genetic diseases [RCV005325043]uncertain significance5150080077150080077Human1name
13472589CV443721single nucleotide variantNM_001288705.3(CSF1R):c.592G>T (p.Val198Phe)not provided [RCV000519164]uncertain significance5150080052150080052Humanname
13518544CV486382single nucleotide variantNM_001288705.3(CSF1R):c.449G>A (p.Arg150His)Hereditary diffuse leukoencephalopathy with spheroids [RCV001153080]|not provided [RCV000584893]uncertain significance5150080195150080195Human1name
14696642CV622954single nucleotide variantNM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785984]|not provided [RCV003727825]pathogenic|uncertain significance5150080249150080249Human1name
15110873CV749340single nucleotide variantNM_001288705.3(CSF1R):c.457A>C (p.Asn153His)not provided [RCV000916622]benign5150080187150080187Humanname
28877122CV859404single nucleotide variantNM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr)not provided [RCV001090378]uncertain significance5150078183150078183Humanname
28888650CV893599single nucleotide variantNM_001288705.3(CSF1R):c.943G>A (p.Val315Met)Hereditary diffuse leukoencephalopathy with spheroids [RCV001151836]|Inborn genetic diseases [RCV002557278]|not provided [RCV001858995]benign|likely benign|uncertain significance5150073440150073440Human2name
28892190CV893601single nucleotide variantNM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV001153078]likely benign5150078121150078121Human1name
28892194CV893602single nucleotide variantNM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln)Hereditary diffuse leukoencephalopathy with spheroids [RCV001153079]likely benign5150078200150078200Human1name
28892202CV893604single nucleotide variantNM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu)Hereditary diffuse leukoencephalopathy with spheroids [RCV001153082]uncertain significance5150080307150080307Human1name
28899106CV893605single nucleotide variantNM_001288705.3(CSF1R):c.299A>G (p.Tyr100Cys)Hereditary diffuse leukoencephalopathy with spheroids [RCV001155700]uncertain significance5150080775150080775Human1name
38460085CV918932single nucleotide variantNM_001288705.3(CSF1R):c.349G>A (p.Val117Met)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196349]|not provided [RCV003480985]uncertain significance5150080295150080295Human1name
38464843CV961510single nucleotide variantNM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV001249778]|not provided [RCV001751515]uncertain significance5150080147150080147Human1name
126725402CV1016520single nucleotide variantNM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003333152]likely pathogenic5150056077150056077Human1name , alternate_id
126725400CV1016521single nucleotide variantNM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001331371]pathogenic5150068221150068221Human1name
126730217CV1020056single nucleotide variantNM_001288705.3(CSF1R):c.2613T>G (p.Asp871Glu)Hereditary diffuse leukoencephalopathy with spheroids [RCV001333368]|not provided [RCV003770849]uncertain significance5150055278150055278Human1name
126917607CV1043447single nucleotide variantNM_001288705.3(CSF1R):c.1930G>A (p.Glu644Lys)not provided [RCV001372166]likely benign|uncertain significance5150060901150060901Humanname
126924817CV1043448single nucleotide variantNM_001288705.3(CSF1R):c.1700C>T (p.Thr567Met)not provided [RCV001367470]uncertain significance5150061776150061776Humanname
8591097CV125919single nucleotide variantNM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)Hereditary diffuse leukoencephalopathy with spheroids [RCV000106405]pathogenic5150056319150056319Human1name
150529648CV1289205single nucleotide variantNM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV001728045]|not provided [RCV002539778]likely pathogenic|uncertain significance5150055328150055328Human1name
150533368CV1294188single nucleotide variantNM_001288705.3(CSF1R):c.2677T>C (p.Trp893Arg)not provided [RCV001758206]uncertain significance5150054408150054408Humanname
150551987CV1296354single nucleotide variantNM_001288705.3(CSF1R):c.2485G>C (p.Asp829His)not provided [RCV001767365]uncertain significance5150056095150056095Humanname
150555427CV1297892single nucleotide variantNM_001288705.3(CSF1R):c.2567A>C (p.Tyr856Ser)not provided [RCV001772800]uncertain significance5150055324150055324Humanname
150555601CV1304751single nucleotide variantNM_001288705.3(CSF1R):c.2912T>A (p.Phe971Tyr)not provided [RCV001772999]uncertain significance5150054076150054076Humanname
150536605CV1312479single nucleotide variantNM_001288705.3(CSF1R):c.2026C>T (p.Arg676Ter)not provided [RCV001780583]pathogenic5150059806150059806Humanname
151348553CV1324089single nucleotide variantNM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly)Hereditary diffuse leukoencephalopathy with spheroids [RCV001808002]uncertain significance5150060933150060933Human1name
151348617CV1324125single nucleotide variantNM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter)Hereditary diffuse leukoencephalopathy with spheroids [RCV001808039]likely pathogenic5150073314150073314Human1name
151661376CV1329837single nucleotide variantNM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV001823037]likely pathogenic5150056113150056113Human1name
151661400CV1330152single nucleotide variantNM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV001823563]uncertain significance5150055321150055321Human1name
151777209CV1336958single nucleotide variantNM_001288705.3(CSF1R):c.2539G>C (p.Glu847Gln)not provided [RCV002025919]likely pathogenic5150056041150056041Humanname
151806323CV1340213single nucleotide variantNM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002272513]|not provided [RCV001867588]uncertain significance5150057546150057546Human1name , alternate_id
151747320CV1345212single nucleotide variantNM_001288705.3(CSF1R):c.1541T>A (p.Leu514His)not provided [RCV001893936]uncertain significance5150068300150068300Humanname
151810937CV1345219single nucleotide variantNM_001288705.3(CSF1R):c.2188T>C (p.Ser730Pro)Inborn genetic diseases [RCV005320904]|not provided [RCV001878263]uncertain significance5150057537150057537Human1name
151798045CV1352686single nucleotide variantNM_001288705.3(CSF1R):c.2392G>C (p.Gly798Arg)not provided [RCV001877122]likely pathogenic|uncertain significance5150056269150056269Humanname
151744541CV1368202single nucleotide variantNM_001288705.3(CSF1R):c.1561G>A (p.Ala521Thr)not provided [RCV001871364]uncertain significance5150068280150068280Humanname
151832675CV1370413single nucleotide variantNM_001288705.3(CSF1R):c.1330G>A (p.Ala444Thr)not provided [RCV001993867]uncertain significance5150070053150070053Humanname
151818174CV1385699single nucleotide variantNM_001288705.3(CSF1R):c.1662G>T (p.Glu554Asp)not provided [RCV002013109]uncertain significance5150061814150061814Humanname
151874378CV1388157single nucleotide variantNM_001288705.3(CSF1R):c.2092G>A (p.Asp698Asn)not provided [RCV001981710]likely benign|uncertain significance5150059740150059740Humanname
151794175CV1394905single nucleotide variantNM_001288705.3(CSF1R):c.2843G>C (p.Ser948Thr)not provided [RCV001973328]uncertain significance5150054145150054145Humanname
151891897CV1403081single nucleotide variantNM_001288705.3(CSF1R):c.1555G>C (p.Val519Leu)not provided [RCV001943545]benign|uncertain significance5150068286150068286Humanname
151765317CV1403272single nucleotide variantNM_001288705.3(CSF1R):c.2073G>C (p.Gln691His)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002484551]|Hereditary diffuse leukoencephalopathy with spheroids [RCV005414622]|not provided [RCV001914442]likely benign|uncertain significance5150059759150059759Human2name , alternate_id
151728990CV1410072single nucleotide variantNM_001288705.3(CSF1R):c.1729T>A (p.Phe577Ile)not provided [RCV001910670]uncertain significance5150061747150061747Humanname
151823565CV1412223single nucleotide variantNM_001288705.3(CSF1R):c.2137A>G (p.Ser713Gly)not provided [RCV001901122]uncertain significance5150057588150057588Humanname
151795819CV1415611single nucleotide variantNM_001288705.3(CSF1R):c.1399A>G (p.Thr467Ala)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555627]|not provided [RCV001898608]uncertain significance5150069984150069984Human1name , alternate_id
151811862CV1417520single nucleotide variantNM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser)Inborn genetic diseases [RCV002642187]|not provided [RCV002029046]likely benign|conflicting interpretations of pathogenicity|uncertain significance5150070218150070218Human1name
151793697CV1423127single nucleotide variantNM_001288705.3(CSF1R):c.1126G>A (p.Ala376Thr)not provided [RCV001917064]uncertain significance5150070528150070528Humanname
151783648CV1435122single nucleotide variantNM_001288705.3(CSF1R):c.2866C>T (p.Gln956Ter)not provided [RCV001916107]uncertain significance5150054122150054122Humanname
151818369CV1446096single nucleotide variantNM_001288705.3(CSF1R):c.2615G>T (p.Gly872Val)not provided [RCV001975485]uncertain significance5150055276150055276Humanname
151867219CV1446543single nucleotide variantNM_001288705.3(CSF1R):c.2627C>A (p.Ala876Asp)not provided [RCV001980860]uncertain significance5150055264150055264Humanname
151725122CV1452199single nucleotide variantNM_001288705.3(CSF1R):c.1795G>C (p.Ala599Pro)not provided [RCV002040583]uncertain significance5150061554150061554Humanname
151825381CV1452900single nucleotide variantNM_001288705.3(CSF1R):c.1284C>A (p.Asn428Lys)not provided [RCV002050206]uncertain significance5150070217150070217Humanname
151876505CV1458669single nucleotide variantNM_001288705.3(CSF1R):c.1876G>T (p.Glu626Ter)not provided [RCV001999002]pathogenic|uncertain significance5150060955150060955Humanname
151851469CV1465170single nucleotide variantNM_001288705.3(CSF1R):c.1645C>T (p.Arg549Cys)Inborn genetic diseases [RCV002579587]|not provided [RCV001996016]uncertain significance5150061831150061831Human1name
151763845CV1467987single nucleotide variantNM_001288705.3(CSF1R):c.2539G>A (p.Glu847Lys)not provided [RCV001949461]pathogenic5150056041150056041Humanname
151887064CV1478126single nucleotide variantNM_001288705.3(CSF1R):c.1084C>T (p.His362Tyr)not provided [RCV002038107]uncertain significance5150070570150070570Humanname
151814509CV1485474single nucleotide variantNM_001288705.3(CSF1R):c.2533C>T (p.Leu845Phe)not provided [RCV002029295]uncertain significance5150056047150056047Humanname
151859115CV1486543single nucleotide variantNM_001288705.3(CSF1R):c.2174A>G (p.Glu725Gly)not provided [RCV001883700]uncertain significance5150057551150057551Humanname
151875677CV1486997single nucleotide variantNM_001288705.3(CSF1R):c.2363A>G (p.Asn788Ser)not provided [RCV001907030]uncertain significance5150056298150056298Humanname
151715138CV1492944single nucleotide variantNM_001288705.3(CSF1R):c.1859C>T (p.Ser620Phe)not provided [RCV001890181]uncertain significance5150060972150060972Humanname
151720635CV1494519single nucleotide variantNM_001288705.3(CSF1R):c.1488G>T (p.Trp496Cys)not provided [RCV001965920]uncertain significance5150069895150069895Humanname
151726940CV1498927single nucleotide variantNM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002468654]|not provided [RCV002040804]likely pathogenic|uncertain significance5150060870150060870Human1name , alternate_id
151845647CV1501646single nucleotide variantNM_001288705.3(CSF1R):c.1484C>T (p.Ser495Phe)not provided [RCV002015870]uncertain significance5150069899150069899Humanname
151773026CV1502184single nucleotide variantNM_001288705.3(CSF1R):c.1865C>T (p.Ala622Val)not provided [RCV001929716]uncertain significance5150060966150060966Humanname
151817458CV1505611single nucleotide variantNM_001288705.3(CSF1R):c.2180G>A (p.Arg727Lys)not provided [RCV002049458]uncertain significance5150057545150057545Humanname
151879588CV1506308single nucleotide variantNM_001288705.3(CSF1R):c.1480G>A (p.Gly494Ser)not provided [RCV001886280]likely benign|uncertain significance5150069903150069903Humanname
151786919CV1513697single nucleotide variantNM_001288705.3(CSF1R):c.1749G>T (p.Gln583His)not provided [RCV001916420]uncertain significance5150061727150061727Humanname
152138719CV1572322single nucleotide variantNM_001288705.3(CSF1R):c.2855C>T (p.Thr952Ile)not provided [RCV002219085]likely benign5150054133150054133Humanname
152097187CV1628028single nucleotide variantNM_001288705.3(CSF1R):c.2806G>A (p.Gly936Ser)not provided [RCV002195077]benign5150054182150054182Humanname
152101138CV1648979single nucleotide variantNM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser)not provided [RCV002214022]likely benign|conflicting interpretations of pathogenicity5150060946150060946Humanname
152028974CV1655487single nucleotide variantNM_001288705.3(CSF1R):c.1400C>T (p.Thr467Met)not provided [RCV002105424]likely benign5150069983150069983Humanname
152040770CV1669772single nucleotide variantNM_001288705.3(CSF1R):c.1754G>T (p.Gly585Val)not provided [RCV002224673]uncertain significance5150061595150061595Humanname
152042626CV1670026single nucleotide variantNM_001288705.3(CSF1R):c.1564T>G (p.Cys522Gly)not provided [RCV002224928]uncertain significance5150068277150068277Humanname
152982828CV1677690single nucleotide variantNM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV002249843]pathogenic5150056082150056082Human1name
155642641CV1707526single nucleotide variantNM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002288456]pathogenic5150057504150057504Humanname , alternate_id
9687370CV171824single nucleotide variantNM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149536]|not provided [RCV001850027]pathogenic|uncertain significance|not provided5150054368150054368Human1name
9687362CV171825single nucleotide variantNM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149528]pathogenic|not provided5150054384150054384Human1name
9687366CV171827single nucleotide variantNM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149532]|not provided [RCV000585150]pathogenic|likely pathogenic5150055262150055262Human1name
9687361CV171828single nucleotide variantNM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149527]pathogenic|not provided5150055325150055325Human1name
9687375CV171829single nucleotide variantNM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149541]|not provided [RCV001171967]pathogenic|uncertain significance|not provided5150055329150055329Human1name
9687360CV171830single nucleotide variantNM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149526]|not provided [RCV005089720]pathogenic|likely pathogenic|uncertain significance5150056039150056039Human1name
9687365CV171831single nucleotide variantNM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149531]pathogenic|not provided5150056052150056052Human1name
9687368CV171832single nucleotide variantNM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149534]pathogenic|not provided5150056053150056053Human1name
9687367CV171833single nucleotide variantNM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149533]pathogenic|not provided5150056068150056068Human1name
9687359CV171834single nucleotide variantNM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149525]pathogenic|not provided5150056100150056100Human1name
9687358CV171836single nucleotide variantNM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149524]pathogenic|not provided5150056130150056130Human1name
9687371CV171837single nucleotide variantNM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149537]pathogenic|not provided5150056283150056283Human1name
9687374CV171838single nucleotide variantNM_001288705.3(CSF1R):c.2350G>A (p.Val784Met)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989326]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000149540]pathogenic|likely pathogenic|not provided5150056311150056311Human2name
9687364CV171839single nucleotide variantNM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149530]|not provided [RCV001850026]pathogenic5150056319150056319Human1name
9687376CV171841single nucleotide variantNM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149542]pathogenic|not provided5150057312150057312Human1name
9687369CV171842single nucleotide variantNM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149535]|not provided [RCV001753529]pathogenic|uncertain significance|not provided5150060874150060874Human1name
9687356CV171843single nucleotide variantNM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149522]pathogenic|not provided5150060942150060942Human1name
9687373CV171844single nucleotide variantNM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro)Hereditary diffuse leukoencephalopathy with spheroids [RCV000149539]|not provided [RCV003556199]pathogenic|uncertain significance|not provided5150061731150061731Human1name
155746438CV1771640single nucleotide variantNM_001288705.3(CSF1R):c.1033C>T (p.His345Tyr)not provided [RCV002303421]uncertain significance5150073350150073350Humanname
155677079CV1771833single nucleotide variantNM_001288705.3(CSF1R):c.1520C>A (p.Thr507Lys)not provided [RCV002297854]uncertain significance5150068321150068321Humanname
155671989CV1773962single nucleotide variantNM_001288705.3(CSF1R):c.2545T>G (p.Phe849Val)not provided [RCV002297533]uncertain significance5150056035150056035Humanname
155734329CV1774390single nucleotide variantNM_001288705.3(CSF1R):c.1970G>A (p.Gly657Asp)not provided [RCV002301846]uncertain significance5150059862150059862Humanname
155701236CV1776162single nucleotide variantNM_001288705.3(CSF1R):c.1037A>G (p.Gln346Arg)not provided [RCV002299983]uncertain significance5150073346150073346Humanname
156237609CV1882220single nucleotide variantNM_001288705.3(CSF1R):c.1196G>A (p.Arg399Gln)not provided [RCV003085623]uncertain significance5150070458150070458Humanname
155965925CV1892083single nucleotide variantNM_001288705.3(CSF1R):c.1693G>A (p.Asp565Asn)not provided [RCV003074931]uncertain significance5150061783150061783Humanname
156089709CV1919684single nucleotide variantNM_001288705.3(CSF1R):c.1528C>G (p.Pro510Ala)not provided [RCV002591868]benign5150068313150068313Humanname
156035656CV1932709single nucleotide variantNM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter)not provided [RCV002637360]pathogenic|uncertain significance5150060907150060907Humanname
156435773CV1937135single nucleotide variantNM_001288705.3(CSF1R):c.2797G>A (p.Gly933Ser)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005036655]|not provided [RCV003105004]likely benign|uncertain significance5150054191150054191Human1name , alternate_id
156441850CV1941504single nucleotide variantNM_001288705.3(CSF1R):c.2522A>G (p.Tyr841Cys)not provided [RCV003112183]uncertain significance5150056058150056058Humanname
156437474CV1947481single nucleotide variantNM_001288705.3(CSF1R):c.2242C>T (p.Arg748Trp)not provided [RCV003107012]likely benign5150057364150057364Humanname
156437525CV1947530single nucleotide variantNM_001288705.3(CSF1R):c.2863G>A (p.Glu955Lys)not provided [RCV003107064]likely benign5150054125150054125Humanname
156446710CV1948065single nucleotide variantNM_001288705.3(CSF1R):c.2858G>A (p.Cys953Tyr)not provided [RCV003118224]likely benign|uncertain significance5150054130150054130Humanname
156106675CV1953756single nucleotide variantNM_001288705.3(CSF1R):c.1479T>G (p.Ser493Arg)not provided [RCV002571044]likely benign5150069904150069904Humanname
156410469CV1958394single nucleotide variantNM_001288705.3(CSF1R):c.2792G>A (p.Arg931Lys)not provided [RCV002587163]uncertain significance5150054196150054196Humanname
156250153CV1969712single nucleotide variantNM_001288705.3(CSF1R):c.1862C>T (p.Thr621Met)not provided [RCV002597443]benign5150060969150060969Humanname
156419673CV1974023single nucleotide variantNM_001288705.3(CSF1R):c.2803A>G (p.Ser935Gly)not provided [RCV002612912]uncertain significance5150054185150054185Humanname
156350351CV1985547single nucleotide variantNM_001288705.3(CSF1R):c.1326T>A (p.Asp442Glu)not provided [RCV002631935]likely benign5150070057150070057Humanname
156246986CV1988153single nucleotide variantNM_001288705.3(CSF1R):c.2195C>T (p.Ser732Phe)not provided [RCV002645770]uncertain significance5150057530150057530Humanname
156402892CV1988782single nucleotide variantNM_001288705.3(CSF1R):c.2500G>A (p.Val834Ile)not provided [RCV002605794]likely benign5150056080150056080Humanname
156324234CV1988802single nucleotide variantNM_001288705.3(CSF1R):c.1109G>A (p.Arg370His)not provided [RCV002649450]uncertain significance5150070545150070545Humanname
156125728CV1995390single nucleotide variantNM_001288705.3(CSF1R):c.2446C>T (p.Arg816Cys)not provided [RCV002663028]uncertain significance5150056134150056134Humanname
156175125CV2000311single nucleotide variantNM_001288705.3(CSF1R):c.2215G>A (p.Glu739Lys)not provided [RCV002642846]uncertain significance5150057510150057510Humanname
156371409CV2007790single nucleotide variantNM_001288705.3(CSF1R):c.2756G>C (p.Arg919Thr)not provided [RCV002676932]likely benign5150054329150054329Humanname
156087693CV2008835single nucleotide variantNM_001288705.3(CSF1R):c.1190C>T (p.Thr397Ile)not provided [RCV002706201]uncertain significance5150070464150070464Humanname
156285667CV2012761single nucleotide variantNM_001288705.3(CSF1R):c.2203G>A (p.Asp735Asn)not provided [RCV002715451]uncertain significance5150057522150057522Humanname
156014135CV2013348single nucleotide variantNM_001288705.3(CSF1R):c.2692A>G (p.Thr898Ala)not provided [RCV002735051]uncertain significance5150054393150054393Humanname
156071076CV2018550single nucleotide variantNM_001288705.3(CSF1R):c.2512G>A (p.Val838Ile)not provided [RCV002705686]uncertain significance5150056068150056068Humanname
155920310CV2032113single nucleotide variantNM_001288705.3(CSF1R):c.1981G>A (p.Val661Ile)not provided [RCV002727353]likely benign5150059851150059851Humanname
155911187CV2037623single nucleotide variantNM_001288705.3(CSF1R):c.1883A>C (p.Glu628Ala)Inborn genetic diseases [RCV004973648]|not provided [RCV002771597]uncertain significance5150060948150060948Human1name
155941496CV2038277single nucleotide variantNM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu)Inborn genetic diseases [RCV002775223]|not provided [RCV002742015]likely benign|uncertain significance5150054208150054208Human1name
156292161CV2047282single nucleotide variantNM_001288705.3(CSF1R):c.2758G>A (p.Glu920Lys)not provided [RCV002770817]benign5150054327150054327Humanname
156060803CV2061073single nucleotide variantNM_001288705.3(CSF1R):c.2119A>G (p.Lys707Glu)not provided [RCV002797093]uncertain significance5150059713150059713Humanname
156261262CV2113738single nucleotide variantNM_001288705.3(CSF1R):c.2239G>C (p.Gly747Arg)not provided [RCV002933889]benign5150057367150057367Humanname
156237581CV2115600single nucleotide variantNM_001288705.3(CSF1R):c.1529C>T (p.Pro510Leu)not provided [RCV002919176]likely benign5150068312150068312Humanname
156139960CV2116639single nucleotide variantNM_001288705.3(CSF1R):c.1466A>G (p.Asn489Ser)not provided [RCV002914870]uncertain significance5150069917150069917Humanname
155940681CV2142911single nucleotide variantNM_001288705.3(CSF1R):c.2614G>A (p.Gly872Arg)not provided [RCV002994032]uncertain significance5150055277150055277Humanname
156314137CV2143939single nucleotide variantNM_001288705.3(CSF1R):c.1222T>C (p.Trp408Arg)not provided [RCV003011285]uncertain significance5150070279150070279Humanname
156124487CV2144616single nucleotide variantNM_001288705.3(CSF1R):c.1975G>A (p.Val659Ile)not provided [RCV003003114]uncertain significance5150059857150059857Humanname
156353854CV2154019single nucleotide variantNM_001288705.3(CSF1R):c.2734G>A (p.Glu912Lys)not provided [RCV003031079]uncertain significance5150054351150054351Humanname
156351714CV2157586microsatelliteNM_001288705.3(CSF1R):c.25CTG[1] (p.Leu10del)not provided [RCV003030923]uncertain significance5150086398150086400Humanname
156329447CV2180850single nucleotide variantNM_001288705.3(CSF1R):c.1792G>A (p.Glu598Lys)not provided [RCV003047124]uncertain significance5150061557150061557Humanname
156320930CV2182655single nucleotide variantNM_001288705.3(CSF1R):c.2245C>T (p.Pro749Ser)not provided [RCV003046599]uncertain significance5150057361150057361Humanname
156357633CV2187222single nucleotide variantNM_001288705.3(CSF1R):c.2508C>A (p.Ser836Arg)not provided [RCV003048800]uncertain significance5150056072150056072Humanname
156259479CV2216226single nucleotide variantNM_001288705.3(CSF1R):c.1567A>C (p.Met523Leu)Inborn genetic diseases [RCV002702935]uncertain significance5150068274150068274Human1name
156389601CV2226438single nucleotide variantNM_001288705.3(CSF1R):c.1043A>G (p.Glu348Gly)Inborn genetic diseases [RCV002724386]uncertain significance5150073340150073340Human1name
156317793CV2251095single nucleotide variantNM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004820935]|Inborn genetic diseases [RCV002809718]uncertain significance5150057298150057298Human2name
156050692CV2304599single nucleotide variantNM_001288705.3(CSF1R):c.1435C>A (p.His479Asn)Inborn genetic diseases [RCV002911184]uncertain significance5150069948150069948Human1name
156145963CV2311053single nucleotide variantNM_001288705.3(CSF1R):c.1714A>G (p.Asn572Asp)Inborn genetic diseases [RCV002915089]uncertain significance5150061762150061762Human1name
156173240CV2337660single nucleotide variantNM_001288705.3(CSF1R):c.1241C>T (p.Ser414Phe)Inborn genetic diseases [RCV002955961]|not provided [RCV003730322]benign|uncertain significance5150070260150070260Human1name
156104800CV2352481single nucleotide variantNM_001288705.3(CSF1R):c.1178C>T (p.Thr393Met)Inborn genetic diseases [RCV002980218]uncertain significance5150070476150070476Human1name
156307403CV2369710single nucleotide variantNM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys)Inborn genetic diseases [RCV003010845]uncertain significance5150054200150054200Human1name
156439974CV2401658single nucleotide variantNM_001288705.3(CSF1R):c.2579T>C (p.Leu860Pro)not provided [RCV003109946]uncertain significance5150055312150055312Humanname
401829054CV2668634single nucleotide variantNM_001288705.3(CSF1R):c.2377A>G (p.Lys793Glu)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003326726]likely pathogenic5150056284150056284Human1name , alternate_id
401748825CV2706037single nucleotide variantNM_001288705.3(CSF1R):c.1672G>A (p.Gly558Ser)Inborn genetic diseases [RCV003242605]uncertain significance5150061804150061804Human1name
401766046CV2717985single nucleotide variantNM_001288705.3(CSF1R):c.1772G>C (p.Gly591Ala)Inborn genetic diseases [RCV003282438]uncertain significance5150061577150061577Human1name
401732360CV2736702single nucleotide variantNM_001288705.3(CSF1R):c.1238G>T (p.Gly413Val)Inborn genetic diseases [RCV004333265]|not provided [RCV003313464]conflicting interpretations of pathogenicity|uncertain significance5150070263150070263Human1name
401733056CV2736799single nucleotide variantNM_001288705.3(CSF1R):c.1990G>A (p.Glu664Lys)not provided [RCV003313561]likely pathogenic5150059842150059842Humanname
401796616CV2740784single nucleotide variantNM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005412541]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003321454]pathogenic5150056109150056109Human2name , alternate_id
401798953CV2742723single nucleotide variantNM_001288705.3(CSF1R):c.1583T>C (p.Leu528Ser)not provided [RCV003325168]uncertain significance5150068258150068258Humanname
401830095CV2743984single nucleotide variantNM_001288705.3(CSF1R):c.2801G>T (p.Gly934Val)not provided [RCV003327159]uncertain significance5150054187150054187Humanname
401869484CV2750728single nucleotide variantNM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003334444]likely pathogenic5150054220150054220Human1name , alternate_id
401919338CV2794868single nucleotide variantNM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala)not specified [RCV003388543]uncertain significance5150054326150054326Humanname
401917035CV2829628single nucleotide variantNM_001288705.3(CSF1R):c.2839T>C (p.Ser947Pro)not provided [RCV003443672]uncertain significance5150054149150054149Humanname
401914134CV2830569single nucleotide variantNM_001288705.3(CSF1R):c.2379G>C (p.Lys793Asn)not provided [RCV003442307]uncertain significance5150056282150056282Humanname
401960897CV2843203single nucleotide variantNM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003479545]uncertain significance5150054179150054179Human1name
402485220CV2855274single nucleotide variantNM_001288705.3(CSF1R):c.1474G>A (p.Gly492Arg)not provided [RCV003544407]uncertain significance5150069909150069909Humanname
405192829CV2872197single nucleotide variantNM_001288705.3(CSF1R):c.1195C>G (p.Arg399Gly)not provided [RCV003550565]uncertain significance5150070459150070459Humanname
405201000CV2873410single nucleotide variantNM_001288705.3(CSF1R):c.2080G>A (p.Glu694Lys)not provided [RCV003551385]uncertain significance5150059752150059752Humanname
405111043CV2902999single nucleotide variantNM_001288705.3(CSF1R):c.2656T>C (p.Tyr886His)not provided [RCV003557898]uncertain significance5150054429150054429Humanname
405218203CV2907483single nucleotide variantNM_001288705.3(CSF1R):c.2828A>G (p.Glu943Gly)not provided [RCV003568054]uncertain significance5150054160150054160Humanname
402474128CV2919646single nucleotide variantNM_001288705.3(CSF1R):c.1478G>A (p.Ser493Asn)not provided [RCV003571132]uncertain significance5150069905150069905Humanname
405066510CV2923743single nucleotide variantNM_001288705.3(CSF1R):c.2038G>A (p.Glu680Lys)not provided [RCV003580848]uncertain significance5150059794150059794Humanname
405056671CV2931951single nucleotide variantNM_001288705.3(CSF1R):c.2338G>C (p.Ala780Pro)not provided [RCV003580100]uncertain significance5150056323150056323Humanname
405015897CV2933994single nucleotide variantNM_001288705.3(CSF1R):c.1678A>C (p.Ser560Arg)not provided [RCV003577061]uncertain significance5150061798150061798Humanname
405069749CV2944782single nucleotide variantNM_001288705.3(CSF1R):c.1736G>A (p.Arg579Gln)not provided [RCV003663909]uncertain significance5150061740150061740Humanname
402486569CV2945179single nucleotide variantNM_001288705.3(CSF1R):c.1475G>C (p.Gly492Ala)not provided [RCV003660129]uncertain significance5150069908150069908Humanname
405149274CV2959570single nucleotide variantNM_001288705.3(CSF1R):c.1249C>A (p.Leu417Ile)not provided [RCV003673883]uncertain significance5150070252150070252Humanname
405173149CV2961498single nucleotide variantNM_001288705.3(CSF1R):c.1040C>T (p.Pro347Leu)not provided [RCV003675546]uncertain significance5150073343150073343Humanname
11596379CV296382single nucleotide variantNM_001288705.3(CSF1R):c.1520C>T (p.Thr507Met)Hereditary diffuse leukoencephalopathy with spheroids [RCV000381774]|not provided [RCV002520343]likely benign5150068321150068321Human1name
405246860CV2965818single nucleotide variantNM_001288705.3(CSF1R):c.2006G>A (p.Gly669Asp)not provided [RCV003685417]uncertain significance5150059826150059826Humanname
405237224CV2973620single nucleotide variantNM_001288705.3(CSF1R):c.2012T>C (p.Leu671Pro)not provided [RCV003683258]uncertain significance5150059820150059820Humanname
11588449CV298217single nucleotide variantNM_001288705.3(CSF1R):c.2217G>T (p.Glu739Asp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000302987]uncertain significance5150057508150057508Human1name
11597573CV298221single nucleotide variantNM_001288705.3(CSF1R):c.2165C>A (p.Thr722Asn)Hereditary diffuse leukoencephalopathy with spheroids [RCV000395556]likely benign5150057560150057560Human1name
11661563CV298228single nucleotide variantNM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV000377854]uncertain significance5150070195150070195Human1name
405013682CV2994194single nucleotide variantNM_001288705.3(CSF1R):c.2342C>G (p.Ala781Gly)not provided [RCV003694203]uncertain significance5150056319150056319Humanname
402505355CV3007236single nucleotide variantNM_001288705.3(CSF1R):c.2833G>A (p.Glu945Lys)not provided [RCV003688777]uncertain significance5150054155150054155Humanname
405094649CV3022612single nucleotide variantNM_001288705.3(CSF1R):c.1108C>A (p.Arg370Ser)not provided [RCV003699896]uncertain significance5150070546150070546Humanname
11591673CV302316single nucleotide variantNM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000331413]|not provided [RCV000973090]benign|likely benign|conflicting interpretations of pathogenicity5150054325150054325Human1name
11650142CV302317single nucleotide variantNM_001288705.3(CSF1R):c.2622A>C (p.Gln874His)Hereditary diffuse leukoencephalopathy with spheroids [RCV000291372]|not provided [RCV004791425]uncertain significance5150055269150055269Human1name
405055769CV3023294single nucleotide variantNM_001288705.3(CSF1R):c.2068G>A (p.Gly690Ser)not provided [RCV003697327]likely benign5150059764150059764Humanname
11597544CV302591single nucleotide variantNM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000395559]|not provided [RCV000901143]benign|likely benign5150057367150057367Human1name
11591237CV302619single nucleotide variantNM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val)Hereditary diffuse leukoencephalopathy with spheroids [RCV000327207]|not provided [RCV000942553]benign|likely benign5150068235150068235Human1name
11585866CV302620single nucleotide variantNM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV000283749]|not provided [RCV000951260]|not specified [RCV001795972]benign|likely benign5150070264150070264Human1name
11585319CV302622single nucleotide variantNM_001288705.3(CSF1R):c.1085A>G (p.His362Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248]benign5150070569150070569Human2name
11585319CV302622single nucleotide variantNM_001288705.3(CSF1R):c.1085A>G (p.His362Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248]benign5150070569150070570Human2name
405221691CV3038611single nucleotide variantNM_001288705.3(CSF1R):c.1468A>G (p.Ser490Gly)not provided [RCV003710069]uncertain significance5150069915150069915Humanname
405234650CV3040646single nucleotide variantNM_001288705.3(CSF1R):c.1611G>T (p.Leu537Phe)not provided [RCV003712113]uncertain significance5150068230150068230Humanname
405199664CV3041119single nucleotide variantNM_001288705.3(CSF1R):c.2885C>T (p.Pro962Leu)not provided [RCV003707320]uncertain significance5150054103150054103Humanname
405031453CV3077445single nucleotide variantNM_001288705.3(CSF1R):c.1717G>A (p.Glu573Lys)not provided [RCV003739122]uncertain significance5150061759150061759Humanname
405213227CV3078055single nucleotide variantNM_001288705.3(CSF1R):c.1108C>T (p.Arg370Cys)not provided [RCV003732210]uncertain significance5150070546150070546Humanname
404985582CV3128387single nucleotide variantNM_001288705.3(CSF1R):c.2860T>C (p.Cys954Arg)not provided [RCV003826660]uncertain significance5150054128150054128Humanname
405232800CV3144891single nucleotide variantNM_001288705.3(CSF1R):c.2740G>C (p.Ala914Pro)not provided [RCV003853148]uncertain significance5150054345150054345Humanname
405223773CV3158471single nucleotide variantNM_001288705.3(CSF1R):c.1667A>G (p.Tyr556Cys)not provided [RCV003863967]uncertain significance5150061809150061809Humanname
405228348CV3180356single nucleotide variantNM_001288705.3(CSF1R):c.2782A>G (p.Ser928Gly)not provided [RCV003864776]uncertain significance5150054206150054206Humanname
405653548CV3227882single nucleotide variantNM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003994624]likely pathogenic5150056322150056322Human1name , alternate_id
405654884CV3228367single nucleotide variantNM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003995102]pathogenic5150056031150056031Human1name
405677134CV3235977single nucleotide variantNM_001288705.3(CSF1R):c.2843G>A (p.Ser948Asn)Inborn genetic diseases [RCV004370318]uncertain significance5150054145150054145Human1name
405855010CV3395538single nucleotide variantNM_001288705.3(CSF1R):c.1232T>C (p.Ile411Thr)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555786]uncertain significance5150070269150070269Human1name , alternate_id
407428501CV3410248single nucleotide variantNM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004587855]likely pathogenic5150056035150056035Human1name
407464834CV3429869single nucleotide variantNM_001288705.3(CSF1R):c.2903A>G (p.Asn968Ser)Inborn genetic diseases [RCV004613556]uncertain significance5150054085150054085Human1name
407464838CV3429870single nucleotide variantNM_001288705.3(CSF1R):c.2687A>T (p.Glu896Val)Inborn genetic diseases [RCV004613557]uncertain significance5150054398150054398Human1name
407464842CV3429871single nucleotide variantNM_001288705.3(CSF1R):c.2371G>A (p.Val791Met)Inborn genetic diseases [RCV004613558]uncertain significance5150056290150056290Human1name
407464850CV3429873single nucleotide variantNM_001288705.3(CSF1R):c.1088C>A (p.Thr363Asn)Inborn genetic diseases [RCV004613560]|not provided [RCV005102150]uncertain significance5150070566150070566Human1name
407496503CV3496632single nucleotide variantNM_001288705.3(CSF1R):c.2380A>T (p.Ile794Phe)not provided [RCV004696833]likely pathogenic5150056281150056281Humanname
408394463CV3518282single nucleotide variantNM_001288705.3(CSF1R):c.2287G>A (p.Ala763Thr)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004759605]likely pathogenic5150057319150057319Human1name , alternate_id
408389270CV3522991single nucleotide variantNM_001288705.3(CSF1R):c.2510A>T (p.Asp837Val)not provided [RCV004769372]uncertain significance5150056070150056070Humanname
408393859CV3526250single nucleotide variantNM_001288705.3(CSF1R):c.1510G>A (p.Gly504Arg)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004771682]uncertain significance5150069873150069873Human1name , alternate_id
596931244CV3531577single nucleotide variantNM_001288705.3(CSF1R):c.2008G>A (p.Asp670Asn)not provided [RCV004781139]uncertain significance5150059824150059824Humanname
596927043CV3532469single nucleotide variantNM_001288705.3(CSF1R):c.2246C>T (p.Pro749Leu)not provided [RCV004778567]uncertain significance5150057360150057360Humanname
596922168CV3534762single nucleotide variantNM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg)not provided [RCV004784319]conflicting interpretations of pathogenicity5150057324150057324Humanname
596929098CV3540798single nucleotide variantNM_001288705.3(CSF1R):c.2473G>C (p.Glu825Gln)not provided [RCV004795127]uncertain significance5150056107150056107Humanname
596927883CV3541185single nucleotide variantNM_001288705.3(CSF1R):c.2563C>A (p.Pro855Thr)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004797056]likely pathogenic5150055328150055328Human1name , alternate_id
12742959CV361456single nucleotide variantNM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile)not provided [RCV000415805]conflicting interpretations of pathogenicity|uncertain significance5150069963150069963Humanname
12840577CV363045single nucleotide variantNM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)Hematologic neoplasm [RCV000430977]|Myeloproliferative disorder [RCV000440400]likely pathogenic5150061765150061765Human2name
12834382CV363147single nucleotide variantNM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter)Neoplasm [RCV000418290]likely pathogenic5150054081150054081Human1name
12839768CV363148single nucleotide variantNM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter)Neoplasm [RCV000429439]likely pathogenic5150054081150054081Human1name
12834481CV363149single nucleotide variantNM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe)Hematologic neoplasm [RCV000439671]|Neoplasm [RCV000419424]likely pathogenic5150054082150054082Human2name
12839910CV363150single nucleotide variantNM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys)Hematologic neoplasm [RCV000440792]|Neoplasm [RCV000429697]likely pathogenic5150054082150054082Human2name
12836343CV363151single nucleotide variantNM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His)Hematologic neoplasm [RCV000434345]|Neoplasm [RCV000423228]likely pathogenic5150054083150054083Human2name
597665004CV3654403single nucleotide variantNM_001288705.3(CSF1R):c.2178G>A (p.Met726Ile)Inborn genetic diseases [RCV004979241]uncertain significance5150057547150057547Human1name
597665008CV3654404single nucleotide variantNM_001288705.3(CSF1R):c.1407G>C (p.Gln469His)Inborn genetic diseases [RCV004979242]uncertain significance5150069976150069976Human1name
597665015CV3654406single nucleotide variantNM_001288705.3(CSF1R):c.1918C>G (p.Leu640Val)Inborn genetic diseases [RCV004979243]uncertain significance5150060913150060913Human1name
597665035CV3654409single nucleotide variantNM_001288705.3(CSF1R):c.1273C>T (p.Pro425Ser)Inborn genetic diseases [RCV004979246]uncertain significance5150070228150070228Human1name
597665049CV3654411single nucleotide variantNM_001288705.3(CSF1R):c.2245C>A (p.Pro749Thr)Inborn genetic diseases [RCV004979248]uncertain significance5150057361150057361Human1name
597833514CV3735008single nucleotide variantNM_001288705.3(CSF1R):c.1846A>C (p.Lys616Gln)not provided [RCV005054741]uncertain significance5150061503150061503Humanname
597917681CV3741193single nucleotide variantNM_001288705.3(CSF1R):c.2243G>A (p.Arg748Gln)not provided [RCV005074340]likely benign5150057363150057363Humanname
597933722CV3742732single nucleotide variantNM_001288705.3(CSF1R):c.1133G>A (p.Arg378His)not provided [RCV005076171]uncertain significance5150070521150070521Humanname
597934077CV3750392single nucleotide variantNM_001288705.3(CSF1R):c.2113G>A (p.Glu705Lys)not provided [RCV005076317]likely benign5150059719150059719Humanname
597965137CV3751097single nucleotide variantNM_001288705.3(CSF1R):c.2108A>G (p.His703Arg)not provided [RCV005082659]uncertain significance5150059724150059724Humanname
597953143CV3756657single nucleotide variantNM_001288705.3(CSF1R):c.1879A>G (p.Lys627Glu)not provided [RCV005079715]uncertain significance5150060952150060952Humanname
597913533CV3771000single nucleotide variantNM_001288705.3(CSF1R):c.2468C>G (p.Ala823Gly)not provided [RCV005114119]uncertain significance5150056112150056112Humanname
597913543CV3771001single nucleotide variantNM_001288705.3(CSF1R):c.2150G>A (p.Ser717Asn)not provided [RCV005114120]uncertain significance5150057575150057575Humanname
597913555CV3771002single nucleotide variantNM_001288705.3(CSF1R):c.1996T>A (p.Cys666Ser)not provided [RCV005114121]uncertain significance5150059836150059836Humanname
597913575CV3771004single nucleotide variantNM_001288705.3(CSF1R):c.1595T>A (p.Leu532Gln)not provided [RCV005114123]uncertain significance5150068246150068246Humanname
597913585CV3771005single nucleotide variantNM_001288705.3(CSF1R):c.1532A>C (p.Asp511Ala)not provided [RCV005114124]uncertain significance5150068309150068309Humanname
597913593CV3771006single nucleotide variantNM_001288705.3(CSF1R):c.1162G>T (p.Gly388Cys)not provided [RCV005114125]uncertain significance5150070492150070492Humanname
597913604CV3771007single nucleotide variantNM_001288705.3(CSF1R):c.1049A>C (p.Lys350Thr)not provided [RCV005114126]uncertain significance5150073334150073334Humanname
597871898CV3805217single nucleotide variantNM_001288705.3(CSF1R):c.1646G>A (p.Arg549His)not provided [RCV005148495]likely benign5150061830150061830Humanname
597923464CV3808516single nucleotide variantNM_001288705.3(CSF1R):c.1517A>G (p.His506Arg)not provided [RCV005156030]uncertain significance5150068324150068324Humanname
597918578CV3811305single nucleotide variantNM_001288705.3(CSF1R):c.2908C>A (p.Gln970Lys)not provided [RCV005155340]uncertain significance5150054080150054080Humanname
597941173CV3819212single nucleotide variantNM_001288705.3(CSF1R):c.1703A>G (p.Gln568Arg)not provided [RCV005159023]uncertain significance5150061773150061773Humanname
597965992CV3823659single nucleotide variantNM_001288705.3(CSF1R):c.1997G>A (p.Cys666Tyr)not provided [RCV005165079]uncertain significance5150059835150059835Humanname
597838973CV3824870single nucleotide variantNM_001288705.3(CSF1R):c.1186C>A (p.Leu396Ile)not provided [RCV005171734]uncertain significance5150070468150070468Humanname
597833640CV3831499single nucleotide variantNM_001288705.3(CSF1R):c.1535A>T (p.Glu512Val)not provided [RCV005170701]uncertain significance5150068306150068306Humanname
8567936CV38765single nucleotide variantNM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000022684]|not provided [RCV005089298]pathogenic5150055267150055267Human1name
8567937CV38766single nucleotide variantNM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV000022685]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005252696]|not provided [RCV001565941]pathogenic|likely pathogenic5150060934150060934Human1name , alternate_id
8567940CV38769single nucleotide variantNM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000022688]pathogenic5150056071150056071Human1name
598126699CV3882154single nucleotide variantNM_001288705.3(CSF1R):c.1445C>A (p.Thr482Asn)not provided [RCV005233705]uncertain significance5150069938150069938Humanname
598217705CV3891564single nucleotide variantNM_001288705.3(CSF1R):c.2666T>C (p.Met889Thr)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005252406]uncertain significance5150054419150054419Human1name , alternate_id
598160469CV3897282single nucleotide variantNM_001288705.3(CSF1R):c.1991A>T (p.Glu664Val)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005368252]likely pathogenic5150059841150059841Human1name , alternate_id
598260819CV3963149single nucleotide variantNM_001288705.3(CSF1R):c.2612A>T (p.Asp871Val)Inborn genetic diseases [RCV005325049]uncertain significance5150055279150055279Human1name
616940228CV4014738single nucleotide variantNM_001288705.3(CSF1R):c.1207G>T (p.Glu403Ter)not provided [RCV005414232]likely pathogenic5150070294150070294Humanname
617148469CV4017003single nucleotide variantNM_001288705.3(CSF1R):c.1897G>C (p.Glu633Gln)Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005416150]uncertain significance5150060934150060934Human1name , alternate_id
12893462CV406661single nucleotide variantNM_001288705.3(CSF1R):c.2450T>A (p.Leu817Gln)not provided [RCV000479111]likely pathogenic5150056130150056130Humanname
12906080CV413695single nucleotide variantNM_001288705.3(CSF1R):c.2345G>T (p.Arg782Leu)not provided [RCV000488391]likely pathogenic5150056316150056316Humanname
13211623CV425626single nucleotide variantNM_001288705.3(CSF1R):c.2873A>T (p.Asp958Val)not provided [RCV000497696]uncertain significance5150054115150054115Humanname
13446174CV438307single nucleotide variantNM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)Hereditary diffuse leukoencephalopathy with spheroids [RCV001157186]|Inborn genetic diseases [RCV002524968]|not provided [RCV000513367]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance5150054339150054339Human2name
13445665CV438308single nucleotide variantNM_001288705.3(CSF1R):c.1202C>T (p.Pro401Leu)not provided [RCV000512701]uncertain significance5150070299150070299Humanname
8570061CV46934single nucleotide variantNM_001288705.3(CSF1R):c.1766G>A (p.Gly589Glu)not provided [RCV001852634]pathogenic5150061583150061583Humanname
8570062CV46935single nucleotide variantNM_001288705.3(CSF1R):c.2297T>C (p.Met766Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000031928]pathogenic5150057309150057309Humanname , alternate_id
8570063CV46936single nucleotide variantNM_001288705.3(CSF1R):c.2308G>C (p.Ala770Pro)not provided [RCV001268235]pathogenic5150057298150057298Humanname
8570065CV46938single nucleotide variantNM_001288705.3(CSF1R):c.2324T>A (p.Ile775Asn)Hereditary diffuse leukoencephalopathy with spheroids [RCV000031931]pathogenic5150056337150056337Humanname , alternate_id
8570066CV46939single nucleotide variantNM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002482936]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000031932]|not provided [RCV001561353]pathogenic|likely pathogenic5150056316150056316Human2name , alternate_id
8570068CV46941single nucleotide variantNM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser)CSF1R-related leukoencephalopathy [RCV005417368]pathogenic|likely pathogenic5150056034150056034Humanname , trait
8570070CV46943single nucleotide variantNM_001288705.3(CSF1R):c.2603T>C (p.Leu868Pro)Hereditary diffuse leukoencephalopathy with spheroids [RCV000031936]pathogenic5150055288150055288Humanname , alternate_id
8570071CV46944single nucleotide variantNM_001288705.3(CSF1R):c.2632C>A (p.Pro878Thr)not provided [RCV003555218]pathogenic|uncertain significance5150055259150055259Humanname
13532854CV511578single nucleotide variantNM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785985]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001849409]|Inborn genetic diseases [RCV000624615]|not provided [RCV001860422]pathogenic|uncertain significance5150069942150069942Human3name
14350265CV590943single nucleotide variantNM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro)Alzheimer disease [RCV000736245]likely pathogenic5150054414150054414Human2name
14350268CV590944single nucleotide variantNM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr)Alzheimer disease [RCV000736246]likely pathogenic5150056335150056335Human2name
14397050CV612703single nucleotide variantNM_001288705.3(CSF1R):c.2304C>A (p.Phe768Leu)not provided [RCV000762177]likely pathogenic|uncertain significance5150057302150057302Humanname
14696643CV622960single nucleotide variantNM_001288705.3(CSF1R):c.1929C>A (p.His643Gln)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785990]|not provided [RCV003117575]pathogenic|uncertain significance5150060902150060902Human1name
15107808CV721298single nucleotide variantNM_001288705.3(CSF1R):c.2762G>A (p.Arg921Gln)not provided [RCV000893554]likely benign5150054323150054323Humanname
15107428CV749338single nucleotide variantNM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met)not provided [RCV000915953]likely benign|conflicting interpretations of pathogenicity5150061550150061550Humanname
15150827CV749339single nucleotide variantNM_001288705.3(CSF1R):c.1760C>T (p.Thr587Ile)not provided [RCV000923549]likely benign5150061589150061589Humanname
8573326CV76592single nucleotide variantNM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr)Hereditary diffuse leukoencephalopathy with spheroids [RCV000055910]pathogenic|not provided5150060873150060873Human1name
8573327CV76593single nucleotide variantNM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp)Hereditary diffuse leukoencephalopathy with spheroids [RCV000055911]|not provided [RCV001854158]pathogenic|not provided5150056332150056332Human1name
8573328CV76594single nucleotide variantNM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser)Hereditary diffuse leukoencephalopathy with spheroids [RCV000055912]pathogenic5150056097150056097Human1name
15138198CV782218single nucleotide variantNM_001288705.3(CSF1R):c.2240G>T (p.Gly747Val)Inborn genetic diseases [RCV004030068]|not provided [RCV000982432]likely benign|uncertain significance5150057366150057366Human1name
21071402CV790526single nucleotide variantNM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro)Hereditary diffuse leukoencephalopathy with spheroids [RCV000987617]uncertain significance5150056049150056049Human1name
21069154CV795658single nucleotide variantNM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp)not provided [RCV000998469]likely pathogenic5150056286150056286Humanname
21069155CV795659single nucleotide variantNM_001288705.3(CSF1R):c.1796C>T (p.Ala599Val)not provided [RCV000998470]uncertain significance5150061553150061553Humanname
26920845CV830536single nucleotide variantNM_001288705.3(CSF1R):c.2537G>C (p.Trp846Ser)not provided [RCV001048634]uncertain significance5150056043150056043Humanname
28875894CV858702single nucleotide variantNM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)Frontotemporal dementia [RCV001090101]|not provided [RCV003558660]likely pathogenic|uncertain significance5150054386150054386Human2name
28877106CV859402single nucleotide variantNM_001288705.3(CSF1R):c.2210T>C (p.Phe737Ser)not provided [RCV001090376]uncertain significance5150057515150057515Humanname
28877114CV859403single nucleotide variantNM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys)not provided [RCV001090377]conflicting interpretations of pathogenicity|uncertain significance5150070522150070522Humanname
28902589CV893590single nucleotide variantNM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg)Hereditary diffuse leukoencephalopathy with spheroids [RCV001157187]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004789408]|not provided [RCV002032454]likely benign|uncertain significance5150055288150055288Human1name , alternate_id
28902798CV893597single nucleotide variantNM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr)Hereditary diffuse leukoencephalopathy with spheroids [RCV001157283]|not provided [RCV002557343]likely benign|uncertain significance5150070281150070281Human1name
28902801CV893598single nucleotide variantNM_001288705.3(CSF1R):c.1216G>A (p.Val406Ile)Hereditary diffuse leukoencephalopathy with spheroids [RCV001157284]|Inborn genetic diseases [RCV004978068]|not provided [RCV003769752]benign|likely benign5150070285150070285Human2name
34891253CV904458single nucleotide variantNM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg)not provided [RCV001171968]likely pathogenic5150056109150056109Humanname
38460976CV918930single nucleotide variantNM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp)See cases [RCV001197110]uncertain significance5150054072150054072Humanname
38459651CV918931single nucleotide variantNM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196009]|not provided [RCV001876271]uncertain significance5150069981150069981Human1name
38598511CV964246single nucleotide variantNM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001253704]uncertain significance5150056063150056063Human1name
40814811CV970150single nucleotide variantNM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu)Hereditary diffuse leukoencephalopathy with spheroids [RCV001261535]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003393930]likely pathogenic5150061577150061577Human1name , alternate_id
40889860CV975155single nucleotide variantNM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002293254]pathogenic|uncertain significance5150061827150061827Human1name , alternate_id
156319705CV2111908deletionNM_001288705.3(CSF1R):c.242_264del (p.Thr81fs)not provided [RCV002937669]pathogenic|uncertain significance5150080810150080832Humanname
150531063CV1299271microsatelliteNM_001288705.3(CSF1R):c.716ACA[2] (p.Asn241del)not provided [RCV001756964]uncertain significance5150078117150078119Humanname
151844601CV1381457microsatelliteNM_001288705.3(CSF1R):c.1654ATC[1] (p.Ile553del)not provided [RCV001881778]uncertain significance5150061817150061819Humanname
151795523CV1434479microsatelliteNM_001288705.3(CSF1R):c.2827GAG[2] (p.Glu945del)not provided [RCV001866646]uncertain significance5150054153150054155Humanname
8570069CV46942microsatelliteNM_001288705.3(CSF1R):c.2543TCT[1] (p.Phe849del)Hereditary diffuse leukoencephalopathy with spheroids [RCV000031935]pathogenic5150056032150056034Humanname , alternate_id
151816916CV1385555deletionNM_001288705.3(CSF1R):c.2370_2377del (p.His790fs)not provided [RCV002012996]pathogenic|uncertain significance5150056284150056291Humanname
151863325CV1498487microsatelliteNM_001288705.3(CSF1R):c.1100_1103del (p.Ser367fs)not provided [RCV001980410]pathogenic|uncertain significance5150070551150070554Humanname
12907430CV227280duplicationNM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs)Hereditary diffuse leukoencephalopathy with spheroids [RCV000490465]likely pathogenic|uncertain significance5150054078150054079Human1name
597943488CV3812349microsatelliteNM_001288705.3(CSF1R):c.2491_2492del (p.Val831fs)not provided [RCV005159559]pathogenic5150056088150056089Humanname
151353443CV1326573deletionNM_001288705.3(CSF1R):c.1939_1941del (p.Val647del)not provided [RCV001816409]uncertain significance5150060890150060892Humanname
151782150CV1360477inversionNM_001288705.3(CSF1R):c.1084_1085inv (p.His362Cys)not provided [RCV001865065]uncertain significance5150070569150070570Humanname
151891531CV1410113deletionNM_001288705.3(CSF1R):c.2210_2212del (p.Phe737del)not provided [RCV001943406]uncertain significance5150057513150057515Humanname
151853145CV1502142microsatelliteNM_001288705.3(CSF1R):c.2800GGCAGC[3] (p.934GS[3])CSF1R-related leukoencephalopathy [RCV005417361]|not provided [RCV001937620]uncertain significance5150054176150054177Humanname , trait
13483533CV443720deletionNM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del)Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785987]|not provided [RCV000522082]pathogenic|uncertain significance5150060950150060952Human1name
38597831CV964245deletionNM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del)Hereditary diffuse leukoencephalopathy with spheroids [RCV001253191]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003992481]uncertain significance5150054363150054365Human1name , alternate_id
405269205CV3187244insertionNM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter)not provided [RCV003887328]pathogenic5150061793150061794Humanname
151885906CV1367087microsatelliteNM_001288705.3(CSF1R):c.2808CAG[2] (p.Ser939_Ser940del)not provided [RCV002000578]uncertain significance5150054169150054174Humanname
151709371CV1375838indelNM_001288705.3(CSF1R):c.2165_2166delinsAT (p.Thr722Asn)not provided [RCV001963975]uncertain significance5150057559150057560Humanname
151842681CV1514365microsatelliteNM_001288705.3(CSF1R):c.2808CAG[6] (p.Ser939_Ser940dup)not provided [RCV001956944]uncertain significance5150054168150054169Humanname
156013740CV1986152indelNM_001288705.3(CSF1R):c.1030_1031delinsTT (p.Asp344Phe)not provided [RCV002636357]uncertain significance5150073352150073353Humanname
151877138CV1390445duplicationNM_001288705.3(CSF1R):c.2806_2814dup (p.Gly936_Ser938dup)not provided [RCV001940538]uncertain significance5150054173150054174Humanname
151728432CV1505240deletionNM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del)not provided [RCV002021046]uncertain significance5150054183150054203Humanname
156279923CV2054885deletionNM_001288705.3(CSF1R):c.2797_2817del (p.Gly933_Ser939del)not provided [RCV002832805]uncertain significance5150054171150054191Humanname
405240166CV2990060deletionNM_001288705.3(CSF1R):c.2797_2814del (p.Gly933_Ser938del)not provided [RCV003683892]uncertain significance5150054174150054191Humanname
405253046CV3044197deletionNM_001288705.3(CSF1R):c.2056_2079del (p.Ser686_Pro693del)not provided [RCV003722389]likely benign5150059753150059776Humanname
405224786CV3142247deletionNM_001288705.3(CSF1R):c.2793_2819del (p.Arg931_Ser939del)Hereditary diffuse leukoencephalopathy with spheroids [RCV005414714]|not provided [RCV003847786]uncertain significance5150054169150054195Human1name
596942635CV3544078microsatelliteNM_001288705.3(CSF1R):c.1584GCT[6] (p.Leu537_Tyr538insLeu)not specified [RCV004800068]uncertain significance5150068242150068243Humanname
405068380CV2936849duplicationNM_001288705.3(CSF1R):c.2806_2808dup (p.Gly936_Ser937insGly)not provided [RCV003659270]uncertain significance5150054179150054180Humanname
597664997CV3654402duplicationNM_001288705.3(CSF1R):c.2797_2802dup (p.Gly934_Ser935insGlyGly)Inborn genetic diseases [RCV004979240]|not provided [RCV005061687]uncertain significance5150054185150054186Human1name
14352122CV540579indelNM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle)Hereditary diffuse leukoencephalopathy with spheroids [RCV000754617]pathogenic5150056050150056053Humanname
156444403CV1938264duplicationNM_001288705.3(CSF1R):c.1404_1421dup (p.Val474_Glu475insGlnSerLeuLeuThrVal)not provided [RCV003115327]uncertain significance5150069961150069962Humanname