| 156097591 | CV2310278 | single nucleotide variant | NM_000757.6(CSF1):c.7G>A (p.Ala3Thr) | not specified [RCV004157024] | uncertain significance | 1 | 109911030 | 109911030 | Human | | name |
| 401862587 | CV2775260 | single nucleotide variant | NM_000757.6(CSF1):c.10C>T (p.Pro4Ser) | not specified [RCV004348383] | uncertain significance | 1 | 109911033 | 109911033 | Human | | name |
| 405677094 | CV3235968 | single nucleotide variant | NM_000757.6(CSF1):c.35C>G (p.Pro12Arg) | not specified [RCV004370309] | uncertain significance | 1 | 109911058 | 109911058 | Human | | name |
| 15194795 | CV695970 | single nucleotide variant | NM_000757.6(CSF1):c.876G>A (p.Glu292=) | not provided [RCV000955743] | benign | 1 | 109923497 | 109923497 | Human | | name |
| 8628783 | CV83927 | single nucleotide variant | NM_000757.5(CSF1):c.648C>T (p.Ala216=) | Malignant melanoma [RCV000064008] | not provided | 1 | 109923269 | 109923269 | Human | | name |
| 597800054 | CV3657903 | single nucleotide variant | NM_000757.6(CSF1):c.180G>T (p.Glu60Asp) | not specified [RCV004905521] | uncertain significance | 1 | 109915651 | 109915651 | Human | | name |
| 598260737 | CV3963133 | single nucleotide variant | NM_000757.6(CSF1):c.185C>T (p.Ser62Leu) | not specified [RCV005325033] | uncertain significance | 1 | 109915656 | 109915656 | Human | | name |
| 15107754 | CV718076 | single nucleotide variant | NM_000757.6(CSF1):c.1533C>T (p.Ala511=) | not provided [RCV000893543] | benign | 1 | 109924154 | 109924154 | Human | | name |
| 15196222 | CV745548 | single nucleotide variant | NM_000757.6(CSF1):c.1212G>A (p.Arg404=) | not provided [RCV000911636] | benign | 1 | 109923833 | 109923833 | Human | | name |
| 155950779 | CV2267907 | single nucleotide variant | NM_000757.6(CSF1):c.844C>A (p.Pro282Thr) | not specified [RCV004136200] | uncertain significance | 1 | 109923465 | 109923465 | Human | | name |
| 155919542 | CV2333215 | single nucleotide variant | NM_000757.6(CSF1):c.959G>T (p.Gly320Val) | not specified [RCV004194501] | uncertain significance | 1 | 109923580 | 109923580 | Human | | name |
| 156278779 | CV2348264 | single nucleotide variant | NM_000757.6(CSF1):c.826G>A (p.Gly276Ser) | not specified [RCV004191300] | uncertain significance | 1 | 109923447 | 109923447 | Human | | name |
| 156337138 | CV2360897 | single nucleotide variant | NM_000757.6(CSF1):c.392A>C (p.Asp131Ala) | not specified [RCV004213666] | uncertain significance | 1 | 109917459 | 109917459 | Human | | name |
| 156042469 | CV2381458 | single nucleotide variant | NM_000757.6(CSF1):c.776A>G (p.Gln259Arg) | not specified [RCV004229943] | uncertain significance | 1 | 109923397 | 109923397 | Human | | name |
| 329378122 | CV2459150 | single nucleotide variant | NM_000757.6(CSF1):c.416A>G (p.Tyr139Cys) | not specified [RCV004272603] | uncertain significance | 1 | 109921866 | 109921866 | Human | | name |
| 401761927 | CV2699460 | single nucleotide variant | NM_000757.6(CSF1):c.465A>C (p.Glu155Asp) | not specified [RCV004299679] | uncertain significance | 1 | 109921915 | 109921915 | Human | | name |
| 401774431 | CV2713447 | single nucleotide variant | NM_000757.6(CSF1):c.733G>C (p.Asp245His) | not specified [RCV004319062] | uncertain significance | 1 | 109923354 | 109923354 | Human | | name |
| 405677103 | CV3235970 | single nucleotide variant | NM_000757.6(CSF1):c.403G>C (p.Val135Leu) | not specified [RCV004370311] | uncertain significance | 1 | 109921853 | 109921853 | Human | | name |
| 405677107 | CV3235971 | single nucleotide variant | NM_000757.6(CSF1):c.631C>T (p.Leu211Phe) | not specified [RCV004370312] | uncertain significance | 1 | 109923252 | 109923252 | Human | | name |
| 405677111 | CV3235972 | single nucleotide variant | NM_000757.6(CSF1):c.743G>A (p.Ser248Asn) | not specified [RCV004370313] | uncertain significance | 1 | 109923364 | 109923364 | Human | | name |
| 405677118 | CV3235974 | single nucleotide variant | NM_000757.6(CSF1):c.857C>A (p.Ala286Asp) | not specified [RCV004370315] | uncertain significance | 1 | 109923478 | 109923478 | Human | | name |
| 407464805 | CV3429862 | single nucleotide variant | NM_000757.6(CSF1):c.535T>G (p.Ser179Ala) | not specified [RCV004613549] | uncertain significance | 1 | 109921985 | 109921985 | Human | | name |
| 407464817 | CV3429865 | single nucleotide variant | NM_000757.6(CSF1):c.760C>T (p.Pro254Ser) | not specified [RCV004613552] | uncertain significance | 1 | 109923381 | 109923381 | Human | | name |
| 407464821 | CV3429866 | single nucleotide variant | NM_000757.6(CSF1):c.467C>T (p.Thr156Ile) | not specified [RCV004613553] | uncertain significance | 1 | 109921917 | 109921917 | Human | | name |
| 597800037 | CV3657895 | single nucleotide variant | NM_000757.6(CSF1):c.521G>T (p.Ser174Ile) | not specified [RCV004905513] | uncertain significance | 1 | 109921971 | 109921971 | Human | | name |
| 597800039 | CV3657896 | single nucleotide variant | NM_000757.6(CSF1):c.850G>C (p.Val284Leu) | not specified [RCV004905514] | uncertain significance | 1 | 109923471 | 109923471 | Human | | name |
| 597800056 | CV3657904 | single nucleotide variant | NM_000757.6(CSF1):c.802G>A (p.Val268Ile) | not specified [RCV004905522] | uncertain significance | 1 | 109923423 | 109923423 | Human | | name |
| 597800058 | CV3657905 | single nucleotide variant | NM_000757.6(CSF1):c.340G>A (p.Glu114Lys) | not specified [RCV004905523] | uncertain significance | 1 | 109917407 | 109917407 | Human | | name |
| 598260726 | CV3963131 | single nucleotide variant | NM_000757.6(CSF1):c.952C>T (p.Pro318Ser) | not specified [RCV005325031] | likely benign | 1 | 109923573 | 109923573 | Human | | name |
| 598260743 | CV3963134 | single nucleotide variant | NM_000757.6(CSF1):c.409A>G (p.Thr137Ala) | not specified [RCV005325034] | uncertain significance | 1 | 109921859 | 109921859 | Human | | name |
| 598260754 | CV3963136 | single nucleotide variant | NM_000757.6(CSF1):c.941A>G (p.Glu314Gly) | not specified [RCV005325036] | uncertain significance | 1 | 109923562 | 109923562 | Human | | name |
| 598260759 | CV3963137 | single nucleotide variant | NM_000757.6(CSF1):c.754C>T (p.Arg252Trp) | not specified [RCV005325037] | uncertain significance | 1 | 109923375 | 109923375 | Human | | name |
| 598260782 | CV3963141 | single nucleotide variant | NM_000757.6(CSF1):c.389A>G (p.His130Arg) | not specified [RCV005325041] | uncertain significance | 1 | 109917456 | 109917456 | Human | | name |
| 8628784 | CV83928 | single nucleotide variant | NM_000757.5(CSF1):c.653T>G (p.Val218Gly) | Malignant melanoma [RCV000064009] | not provided | 1 | 109923274 | 109923274 | Human | | name |
| 156170965 | CV2197960 | single nucleotide variant | NM_000757.6(CSF1):c.1292C>T (p.Ser431Leu) | not specified [RCV004077172] | uncertain significance | 1 | 109923913 | 109923913 | Human | | name |
| 156290763 | CV2309875 | single nucleotide variant | NM_000757.6(CSF1):c.1577A>G (p.Gln526Arg) | not specified [RCV004160980] | likely benign | 1 | 109924783 | 109924783 | Human | | name |
| 401742577 | CV2715265 | single nucleotide variant | NM_000757.6(CSF1):c.1289C>T (p.Ser430Phe) | not specified [RCV004324608] | uncertain significance | 1 | 109923910 | 109923910 | Human | | name |
| 405677075 | CV3235964 | single nucleotide variant | NM_000757.6(CSF1):c.1300G>C (p.Val434Leu) | not specified [RCV004370305] | uncertain significance | 1 | 109923921 | 109923921 | Human | | name |
| 405677079 | CV3235965 | single nucleotide variant | NM_000757.6(CSF1):c.1345C>T (p.Arg449Trp) | not specified [RCV004370306] | uncertain significance | 1 | 109923966 | 109923966 | Human | | name |
| 405677085 | CV3235966 | single nucleotide variant | NM_000757.6(CSF1):c.1442A>T (p.His481Leu) | not specified [RCV004370307] | uncertain significance | 1 | 109924063 | 109924063 | Human | | name |
| 405677089 | CV3235967 | single nucleotide variant | NM_000757.6(CSF1):c.1484A>G (p.Glu495Gly) | not specified [RCV004370308] | likely benign | 1 | 109924105 | 109924105 | Human | | name |
| 407464793 | CV3429859 | single nucleotide variant | NM_000757.6(CSF1):c.1409G>A (p.Arg470His) | not specified [RCV004613546] | uncertain significance | 1 | 109924030 | 109924030 | Human | | name |
| 407464797 | CV3429860 | single nucleotide variant | NM_000757.6(CSF1):c.1534G>A (p.Val512Ile) | not specified [RCV004613547] | uncertain significance | 1 | 109924155 | 109924155 | Human | | name |
| 407464801 | CV3429861 | single nucleotide variant | NM_000757.6(CSF1):c.1633C>G (p.Gln545Glu) | not specified [RCV004613548] | uncertain significance | 1 | 109925157 | 109925157 | Human | | name |
| 407464813 | CV3429864 | single nucleotide variant | NM_000757.6(CSF1):c.1076C>T (p.Pro359Leu) | not specified [RCV004613551] | likely benign | 1 | 109923697 | 109923697 | Human | | name |
| 407464826 | CV3429867 | single nucleotide variant | NM_000757.6(CSF1):c.1362G>T (p.Glu454Asp) | not specified [RCV004613554] | uncertain significance | 1 | 109923983 | 109923983 | Human | | name |
| 407464830 | CV3429868 | single nucleotide variant | NM_000757.6(CSF1):c.1234G>A (p.Gly412Ser) | not specified [RCV004613555] | uncertain significance | 1 | 109923855 | 109923855 | Human | | name |
| 597800041 | CV3657897 | single nucleotide variant | NM_000757.6(CSF1):c.1193C>T (p.Pro398Leu) | not specified [RCV004905515] | uncertain significance | 1 | 109923814 | 109923814 | Human | | name |
| 597800043 | CV3657898 | single nucleotide variant | NM_000757.6(CSF1):c.1300G>A (p.Val434Met) | not specified [RCV004905516] | uncertain significance | 1 | 109923921 | 109923921 | Human | | name |
| 597800047 | CV3657900 | single nucleotide variant | NM_000757.6(CSF1):c.1408C>T (p.Arg470Cys) | not specified [RCV004905518] | uncertain significance | 1 | 109924029 | 109924029 | Human | | name |
| 597800050 | CV3657901 | single nucleotide variant | NM_000757.6(CSF1):c.1420G>C (p.Val474Leu) | not specified [RCV004905519] | uncertain significance | 1 | 109924041 | 109924041 | Human | | name |
| 597800052 | CV3657902 | single nucleotide variant | NM_000757.6(CSF1):c.1019C>G (p.Pro340Arg) | not specified [RCV004905520] | uncertain significance | 1 | 109923640 | 109923640 | Human | | name |
| 598160209 | CV3963130 | single nucleotide variant | NM_000757.6(CSF1):c.1346G>A (p.Arg449Gln) | not specified [RCV005328723] | uncertain significance | 1 | 109923967 | 109923967 | Human | | name |
| 598260732 | CV3963132 | single nucleotide variant | NM_000757.6(CSF1):c.1052C>T (p.Pro351Leu) | not specified [RCV005325032] | uncertain significance | 1 | 109923673 | 109923673 | Human | | name |
| 598260766 | CV3963138 | single nucleotide variant | NM_000757.6(CSF1):c.1121G>T (p.Arg374Met) | not specified [RCV005325038] | uncertain significance | 1 | 109923742 | 109923742 | Human | | name |
| 598260771 | CV3963139 | single nucleotide variant | NM_000757.6(CSF1):c.1460G>C (p.Gly487Ala) | not specified [RCV005325039] | uncertain significance | 1 | 109924081 | 109924081 | Human | | name |
| 598260776 | CV3963140 | single nucleotide variant | NM_000757.6(CSF1):c.1256T>G (p.Leu419Arg) | not specified [RCV005325040] | uncertain significance | 1 | 109923877 | 109923877 | Human | | name |
| 598260787 | CV3963142 | single nucleotide variant | NM_000757.6(CSF1):c.1307C>A (p.Pro436His) | not specified [RCV005325042] | uncertain significance | 1 | 109923928 | 109923928 | Human | | name |
| 15144237 | CV745549 | single nucleotide variant | NM_000757.6(CSF1):c.1592C>T (p.Ala531Val) | not provided [RCV000922333] | likely benign | 1 | 109924798 | 109924798 | Human | | name |
| 8628785 | CV83929 | single nucleotide variant | NM_000757.5(CSF1):c.1418C>T (p.Ser473Phe) | Malignant melanoma [RCV000064010] | not provided | 1 | 109924039 | 109924039 | Human | | name |
| 9687372 | CV171835 | single nucleotide variant | NM_005211.3(CSF1R):c.2467C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149538] | pathogenic | 5 | 150056112 | 150056112 | Human | 1 | name |
| 11594174 | CV296413 | single nucleotide variant | NM_005211.4(CSF1R):c.-249G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000356358] | benign|likely benign | 5 | 150113329 | 150113329 | Human | 1 | name |
| 11645377 | CV298246 | single nucleotide variant | NM_005211.4(CSF1R):c.-199G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000265354] | uncertain significance | 5 | 150113279 | 150113279 | Human | 1 | name |
| 11594318 | CV302660 | single nucleotide variant | NM_005211.4(CSF1R):c.-187G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000357654] | benign|likely benign | 5 | 150113267 | 150113267 | Human | 1 | name |
| 28888947 | CV893609 | single nucleotide variant | NM_005211.4(CSF1R):c.-200C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151924] | uncertain significance | 5 | 150113280 | 150113280 | Human | 1 | name |
| 28896476 | CV893589 | single nucleotide variant | NM_001288705.3(CSF1R):c.*5T>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV001154674] | uncertain significance | 5 | 150054064 | 150054064 | Human | 1 | name |
| 28903066 | CV893607 | single nucleotide variant | NM_001288705.3(CSF1R):c.-2C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157392] | uncertain significance | 5 | 150086429 | 150086429 | Human | 1 | name |
| 11594519 | CV302309 | single nucleotide variant | NM_001288705.3(CSF1R):c.*35C>T | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662317]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000360123]|not provided [RCV001636977] | benign | 5 | 150054034 | 150054034 | Human | 2 | name |
| 11594814 | CV302381 | single nucleotide variant | NM_001288705.3(CSF1R):c.-25T>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000363553] | benign|likely benign | 5 | 150086452 | 150086452 | Human | 1 | name |
| 11597875 | CV302578 | single nucleotide variant | NM_001288705.3(CSF1R):c.*64C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000399133] | benign|likely benign | 5 | 150054005 | 150054005 | Human | 1 | name |
| 11588746 | CV302581 | single nucleotide variant | NM_001288705.3(CSF1R):c.*36A>C | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662316]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000305450]|not provided [RCV001618634] | benign | 5 | 150054033 | 150054033 | Human | 2 | name |
| 597717245 | CV3733327 | single nucleotide variant | NM_005211.4(CSF1R):c.-181+2T>G | not provided [RCV005052517] | uncertain significance | 5 | 150113259 | 150113259 | Human | | name |
| 28896471 | CV893588 | single nucleotide variant | NM_001288705.3(CSF1R):c.*56G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001154673] | uncertain significance | 5 | 150054013 | 150054013 | Human | 1 | name |
| 11583490 | CV296361 | single nucleotide variant | NM_001288705.3(CSF1R):c.*539C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000266964] | uncertain significance | 5 | 150053530 | 150053530 | Human | 1 | name |
| 11597688 | CV296367 | single nucleotide variant | NM_001288705.3(CSF1R):c.*199A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000396988] | benign|likely benign | 5 | 150053870 | 150053870 | Human | 1 | name |
| 11653037 | CV296369 | single nucleotide variant | NM_001288705.3(CSF1R):c.*156G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000308657] | uncertain significance | 5 | 150053913 | 150053913 | Human | 1 | name |
| 11597610 | CV296403 | single nucleotide variant | NM_001288705.3(CSF1R):c.-101G>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000395888] | likely benign|uncertain significance | 5 | 150086528 | 150086528 | Human | 1 | name |
| 11590392 | CV298190 | single nucleotide variant | NM_001288705.3(CSF1R):c.*405G>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV000318832] | benign|likely benign | 5 | 150053664 | 150053664 | Human | 1 | name |
| 11595688 | CV298204 | single nucleotide variant | NM_001288705.3(CSF1R):c.*310C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000373433] | benign | 5 | 150053759 | 150053759 | Human | 1 | name |
| 11589438 | CV302301 | single nucleotide variant | NM_001288705.3(CSF1R):c.*769A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000310853] | benign | 5 | 150053300 | 150053300 | Human | 1 | name |
| 11590764 | CV302304 | single nucleotide variant | NM_001288705.3(CSF1R):c.*531C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000322128] | likely benign|uncertain significance | 5 | 150053538 | 150053538 | Human | 1 | name |
| 11585634 | CV302305 | single nucleotide variant | NM_001288705.3(CSF1R):c.*500C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000282534] | benign|likely benign | 5 | 150053569 | 150053569 | Human | 1 | name |
| 11585066 | CV302306 | single nucleotide variant | NM_001288705.3(CSF1R):c.*249A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000278261] | likely benign|uncertain significance | 5 | 150053820 | 150053820 | Human | 1 | name |
| 11598123 | CV302519 | single nucleotide variant | NM_001288705.3(CSF1R):c.*774A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000401954] | benign|likely benign | 5 | 150053295 | 150053295 | Human | 1 | name |
| 11584049 | CV302526 | single nucleotide variant | NM_001288705.3(CSF1R):c.*715C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000270938] | uncertain significance | 5 | 150053354 | 150053354 | Human | 1 | name |
| 11591068 | CV302527 | single nucleotide variant | NM_001288705.3(CSF1R):c.*604A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000325526] | benign|likely benign | 5 | 150053465 | 150053465 | Human | 1 | name |
| 11659800 | CV302552 | single nucleotide variant | NM_001288705.3(CSF1R):c.*561C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000361550] | uncertain significance | 5 | 150053508 | 150053508 | Human | 1 | name |
| 11595970 | CV302554 | single nucleotide variant | NM_001288705.3(CSF1R):c.*512T>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV000376771] | benign | 5 | 150053557 | 150053557 | Human | 1 | name |
| 11593743 | CV302555 | deletion | NM_001288705.3(CSF1R):c.*234del | Hereditary diffuse leukoencephalopathy with spheroids [RCV000351959] | uncertain significance | 5 | 150053835 | 150053835 | Human | 1 | name |
| 11593398 | CV302570 | single nucleotide variant | NM_001288705.3(CSF1R):c.*231C>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000348297] | benign|likely benign | 5 | 150053838 | 150053838 | Human | 1 | name |
| 11593059 | CV302577 | single nucleotide variant | NM_001288705.3(CSF1R):c.*116C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000344888] | likely benign|uncertain significance | 5 | 150053953 | 150053953 | Human | 1 | name |
| 11652459 | CV302658 | single nucleotide variant | NM_001288705.3(CSF1R):c.-102C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000305256] | uncertain significance | 5 | 150086529 | 150086529 | Human | 1 | name |
| 28896132 | CV893576 | single nucleotide variant | NM_001288705.3(CSF1R):c.*768T>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV001154548] | uncertain significance | 5 | 150053301 | 150053301 | Human | 1 | name |
| 28898408 | CV893577 | single nucleotide variant | NM_001288705.3(CSF1R):c.*749C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155387] | uncertain significance | 5 | 150053320 | 150053320 | Human | 1 | name |
| 28898314 | CV893578 | single nucleotide variant | NM_001288705.3(CSF1R):c.*733G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155388] | uncertain significance | 5 | 150053336 | 150053336 | Human | 1 | name |
| 28898318 | CV893579 | single nucleotide variant | NM_001288705.3(CSF1R):c.*619G>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155389] | uncertain significance | 5 | 150053450 | 150053450 | Human | 1 | name |
| 28898321 | CV893580 | single nucleotide variant | NM_001288705.3(CSF1R):c.*532G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155390] | benign | 5 | 150053537 | 150053537 | Human | 1 | name |
| 28902300 | CV893581 | single nucleotide variant | NM_001288705.3(CSF1R):c.*530C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157074] | uncertain significance | 5 | 150053539 | 150053539 | Human | 1 | name |
| 28902305 | CV893582 | single nucleotide variant | NM_001288705.3(CSF1R):c.*263G>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157075] | uncertain significance | 5 | 150053806 | 150053806 | Human | 1 | name |
| 28887975 | CV893583 | single nucleotide variant | NM_001288705.3(CSF1R):c.*233C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151624] | uncertain significance | 5 | 150053836 | 150053836 | Human | 1 | name |
| 28887979 | CV893584 | single nucleotide variant | NM_001288705.3(CSF1R):c.*232C>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151625] | uncertain significance | 5 | 150053837 | 150053837 | Human | 1 | name |
| 28887984 | CV893585 | single nucleotide variant | NM_001288705.3(CSF1R):c.*230C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151626] | uncertain significance | 5 | 150053839 | 150053839 | Human | 1 | name |
| 28887987 | CV893586 | single nucleotide variant | NM_001288705.3(CSF1R):c.*221C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151627] | benign | 5 | 150053848 | 150053848 | Human | 1 | name |
| 28896467 | CV893587 | single nucleotide variant | NM_001288705.3(CSF1R):c.*101T>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV001154672]|not provided [RCV004694974] | uncertain significance | 5 | 150053968 | 150053968 | Human | 1 | name |
| 28888943 | CV893608 | single nucleotide variant | NM_001288705.3(CSF1R):c.-115C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151923] | uncertain significance | 5 | 150086542 | 150086542 | Human | 1 | name |
| 150447260 | CV1216090 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+51A>G | not provided [RCV001611388] | benign | 5 | 150086328 | 150086328 | Human | | name |
| 150501815 | CV1241042 | single nucleotide variant | NM_005211.4(CSF1R):c.-180-145G>C | not provided [RCV001656938] | benign | 5 | 150086752 | 150086752 | Human | | name |
| 150503313 | CV1257768 | single nucleotide variant | NM_005211.4(CSF1R):c.-180-119A>G | not provided [RCV001677456] | benign | 5 | 150086726 | 150086726 | Human | | name |
| 151766185 | CV1359064 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+16G>T | not provided [RCV001970720] | likely benign|uncertain significance | 5 | 150086363 | 150086363 | Human | | name |
| 151854086 | CV1376445 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+4C>T | not provided [RCV001996323] | uncertain significance | 5 | 150080048 | 150080048 | Human | | name |
| 151768274 | CV1394077 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+3G>A | not provided [RCV002008598] | uncertain significance | 5 | 150080049 | 150080049 | Human | | name |
| 151858893 | CV1398363 | single nucleotide variant | NM_001288705.3(CSF1R):c.307+3G>T | not provided [RCV002017511] | uncertain significance | 5 | 150080764 | 150080764 | Human | | name |
| 151871411 | CV1413758 | single nucleotide variant | NM_001288705.3(CSF1R):c.730-5T>G | not provided [RCV001998390] | uncertain significance | 5 | 150077440 | 150077440 | Human | | name |
| 152129451 | CV1554648 | single nucleotide variant | NM_001288705.3(CSF1R):c.50-20C>T | not provided [RCV002176604] | likely benign | 5 | 150081044 | 150081044 | Human | | name |
| 152176406 | CV1594119 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+13C>T | not provided [RCV002164551] | likely benign | 5 | 150086366 | 150086366 | Human | | name |
| 152171656 | CV1597700 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+18G>C | not provided [RCV002162191] | likely benign | 5 | 150086361 | 150086361 | Human | | name |
| 155716349 | CV1780480 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+5G>A | not provided [RCV002306085] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150080047 | 150080047 | Human | | name |
| 156370855 | CV1920221 | single nucleotide variant | NM_001288705.3(CSF1R):c.890-4C>T | not provided [RCV002603163] | likely benign | 5 | 150073497 | 150073497 | Human | | name |
| 155973440 | CV1974841 | single nucleotide variant | NM_001288705.3(CSF1R):c.307+8G>A | not provided [RCV002617285] | likely benign | 5 | 150080759 | 150080759 | Human | | name |
| 156203292 | CV2163661 | single nucleotide variant | NM_001288705.3(CSF1R):c.593-5C>T | not provided [RCV003042049] | uncertain significance | 5 | 150078253 | 150078253 | Human | | name |
| 11594526 | CV302348 | single nucleotide variant | NM_001288705.3(CSF1R):c.593-9C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000360223]|not provided [RCV000900536] | benign|likely benign | 5 | 150078257 | 150078257 | Human | 1 | name |
| 11661303 | CV302354 | single nucleotide variant | NM_001288705.3(CSF1R):c.307+5G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000375204]|not provided [RCV001310530] | uncertain significance | 5 | 150080762 | 150080762 | Human | 1 | name |
| 405187899 | CV3156565 | single nucleotide variant | NM_001288705.3(CSF1R):c.890-3C>T | not provided [RCV003859443] | uncertain significance | 5 | 150073496 | 150073496 | Human | | name |
| 405241571 | CV3176978 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+18G>T | not provided [RCV003867419] | likely benign | 5 | 150086361 | 150086361 | Human | | name |
| 597897842 | CV3826552 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+17G>C | not provided [RCV005180685] | likely benign | 5 | 150086362 | 150086362 | Human | | name |
| 28903064 | CV896064 | single nucleotide variant | NM_001288705.3(CSF1R):c.49+14G>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157391]|not provided [RCV002558374] | likely benign | 5 | 150086365 | 150086365 | Human | 1 | name |
| 127274739 | CV1094133 | single nucleotide variant | NM_001288705.3(CSF1R):c.593-13C>T | not provided [RCV001442961] | likely benign | 5 | 150078261 | 150078261 | Human | | name |
| 127314353 | CV1154961 | single nucleotide variant | NM_001288705.3(CSF1R):c.593-19G>A | not provided [RCV001519581] | benign | 5 | 150078267 | 150078267 | Human | | name |
| 150407334 | CV1199933 | single nucleotide variant | NM_001288705.3(CSF1R):c.2554+3G>A | CSF1R-related disorder [RCV003931220]|not provided [RCV001579742] | likely benign|uncertain significance | 5 | 150056023 | 150056023 | Human | 1 | name , trait , alternate_id |
| 150406799 | CV1199934 | single nucleotide variant | NM_001288705.3(CSF1R):c.2222-3T>C | not provided [RCV001579509] | likely benign | 5 | 150057387 | 150057387 | Human | | name |
| 150513968 | CV1210792 | single nucleotide variant | NM_001288705.3(CSF1R):c.889+67A>T | not provided [RCV001598833] | benign | 5 | 150077209 | 150077209 | Human | | name |
| 150514353 | CV1228178 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+54C>G | not provided [RCV001638456] | benign | 5 | 150079998 | 150079998 | Human | | name |
| 150509387 | CV1229876 | single nucleotide variant | NM_001288705.3(CSF1R):c.889+28C>T | not provided [RCV001636456] | benign | 5 | 150077248 | 150077248 | Human | | name |
| 150450713 | CV1232711 | single nucleotide variant | NM_001288705.3(CSF1R):c.889+68G>T | not provided [RCV001647786] | benign | 5 | 150077208 | 150077208 | Human | | name |
| 150470235 | CV1243291 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+41G>A | not provided [RCV001650813] | benign | 5 | 150080011 | 150080011 | Human | | name |
| 150483817 | CV1245174 | single nucleotide variant | NM_001288705.3(CSF1R):c.50-214G>A | not provided [RCV001653351] | benign | 5 | 150081238 | 150081238 | Human | | name |
| 8591096 | CV125918 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+1G>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000106404] | pathogenic | 5 | 150056218 | 150056218 | Human | 1 | name |
| 150452398 | CV1275255 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-3C>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV001706768] | uncertain significance | 5 | 150061598 | 150061598 | Human | 1 | name |
| 151348116 | CV1322382 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+5G>A | Inborn genetic diseases [RCV004611880]|not provided [RCV001804187] | likely pathogenic|uncertain significance | 5 | 150056214 | 150056214 | Human | 1 | name |
| 151772214 | CV1481973 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+5G>C | not provided [RCV002008954] | uncertain significance | 5 | 150069868 | 150069868 | Human | | name |
| 151807353 | CV1500608 | duplication | NM_001288705.3(CSF1R):c.2442+2dup | CSF1R-Related Adult-Onset Leukoencephalopathy [RCV003492704]|not provided [RCV001974459] | pathogenic|uncertain significance | 5 | 150056216 | 150056217 | Human | 1 | name , trait |
| 152059008 | CV1536002 | single nucleotide variant | NM_001288705.3(CSF1R):c.307+12G>A | not provided [RCV002146559] | likely benign | 5 | 150080755 | 150080755 | Human | | name |
| 152126301 | CV1544736 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+20C>A | not provided [RCV002154920] | likely benign | 5 | 150080032 | 150080032 | Human | | name |
| 152149218 | CV1566487 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+7G>A | not provided [RCV002139262] | likely benign | 5 | 150055230 | 150055230 | Human | | name |
| 152061635 | CV1594376 | single nucleotide variant | NM_001288705.3(CSF1R):c.2555-9C>T | not provided [RCV002110183] | likely benign | 5 | 150055345 | 150055345 | Human | | name |
| 152088827 | CV1603303 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+20C>T | not provided [RCV002077426] | likely benign | 5 | 150080032 | 150080032 | Human | | name |
| 152131854 | CV1604646 | single nucleotide variant | NM_001288705.3(CSF1R):c.2132+9T>C | not provided [RCV002099597] | likely benign | 5 | 150059691 | 150059691 | Human | | name |
| 152121773 | CV1613248 | single nucleotide variant | NM_001288705.3(CSF1R):c.729+13A>G | not provided [RCV002154353] | likely benign | 5 | 150078099 | 150078099 | Human | | name |
| 152047183 | CV1614421 | single nucleotide variant | NM_001288705.3(CSF1R):c.730-16T>C | not provided [RCV002071734] | likely benign | 5 | 150077451 | 150077451 | Human | | name |
| 152170343 | CV1651036 | single nucleotide variant | NM_001288705.3(CSF1R):c.1083-7C>T | not provided [RCV002143088] | likely benign | 5 | 150070578 | 150070578 | Human | | name |
| 152042120 | CV1669961 | single nucleotide variant | NM_001288705.3(CSF1R):c.2132+2T>C | not provided [RCV002224863] | likely pathogenic | 5 | 150059698 | 150059698 | Human | | name |
| 9687363 | CV171826 | single nucleotide variant | NM_001288705.3(CSF1R):c.2655-2A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149529] | pathogenic | 5 | 150054432 | 150054432 | Human | 1 | name |
| 156406770 | CV1891337 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+6C>T | not provided [RCV003070491] | uncertain significance | 5 | 150055231 | 150055231 | Human | | name |
| 156443882 | CV1941159 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-7G>A | not provided [RCV003114793] | likely benign|conflicting interpretations of pathogenicity | 5 | 150061602 | 150061602 | Human | | name |
| 156346337 | CV1970550 | single nucleotide variant | NM_001288705.3(CSF1R):c.2221+7A>T | not provided [RCV002601543] | likely benign | 5 | 150057497 | 150057497 | Human | | name |
| 156164191 | CV1971388 | single nucleotide variant | NM_001288705.3(CSF1R):c.308-14C>T | not provided [RCV002594570] | likely benign | 5 | 150080350 | 150080350 | Human | | name |
| 155909445 | CV1980024 | single nucleotide variant | NM_001288705.3(CSF1R):c.1511-8C>A | not provided [RCV002613880] | likely benign | 5 | 150068338 | 150068338 | Human | | name |
| 156244408 | CV2029320 | single nucleotide variant | NM_001288705.3(CSF1R):c.1082+1G>A | not provided [RCV002745776] | likely pathogenic | 5 | 150073300 | 150073300 | Human | | name |
| 155944305 | CV2032574 | single nucleotide variant | NM_001288705.3(CSF1R):c.1511-6T>C | not provided [RCV002730313] | likely benign | 5 | 150068336 | 150068336 | Human | | name |
| 156221503 | CV2084062 | single nucleotide variant | NM_001288705.3(CSF1R):c.730-10C>T | not provided [RCV002875887] | likely benign | 5 | 150077445 | 150077445 | Human | | name |
| 156132775 | CV2085027 | single nucleotide variant | NM_001288705.3(CSF1R):c.2319+3G>A | not provided [RCV002871698] | uncertain significance | 5 | 150057284 | 150057284 | Human | | name |
| 156257128 | CV2090094 | single nucleotide variant | NM_001288705.3(CSF1R):c.592+17G>A | not provided [RCV002877140] | likely benign | 5 | 150080035 | 150080035 | Human | | name |
| 156224411 | CV2103637 | single nucleotide variant | NM_001288705.3(CSF1R):c.1753+9G>A | not provided [RCV002918697] | likely benign | 5 | 150061714 | 150061714 | Human | | name |
| 156383989 | CV2128270 | single nucleotide variant | NM_001288705.3(CSF1R):c.2655-4C>G | not provided [RCV002943353] | likely benign | 5 | 150054434 | 150054434 | Human | | name |
| 155986326 | CV2136947 | single nucleotide variant | NM_001288705.3(CSF1R):c.308-12C>T | not provided [RCV002996349] | likely benign | 5 | 150080348 | 150080348 | Human | | name |
| 156303514 | CV2146567 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-9C>T | not provided [RCV003028208] | likely benign | 5 | 150057601 | 150057601 | Human | | name |
| 156141401 | CV2177912 | single nucleotide variant | NM_001288705.3(CSF1R):c.730-18C>T | not provided [RCV003040049] | likely benign | 5 | 150077453 | 150077453 | Human | | name |
| 401799085 | CV2741661 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+2T>C | not provided [RCV003323069] | likely pathogenic | 5 | 150056217 | 150056217 | Human | | name |
| 11592056 | CV296383 | single nucleotide variant | NM_001288705.3(CSF1R):c.1083-8T>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV000335208]|not provided [RCV000971517] | benign|likely benign | 5 | 150070579 | 150070579 | Human | 1 | name |
| 402495488 | CV2978681 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+5G>C | not provided [RCV003714214] | uncertain significance | 5 | 150060857 | 150060857 | Human | | name |
| 11587965 | CV298222 | deletion | NM_001288705.3(CSF1R):c.2132+8del | Hereditary diffuse leukoencephalopathy with spheroids [RCV000299252] | uncertain significance | 5 | 150059692 | 150059692 | Human | 1 | name |
| 11593965 | CV298223 | single nucleotide variant | NM_001288705.3(CSF1R):c.2132+5C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000354126]|not provided [RCV001521045]|not specified [RCV001795971] | benign | 5 | 150059695 | 150059695 | Human | 1 | name |
| 11595087 | CV298224 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+7C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000366714]|not provided [RCV001522247] | benign | 5 | 150068208 | 150068208 | Human | 1 | name |
| 11584178 | CV302322 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+3G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV000272029]|Inborn genetic diseases [RCV002520342]|not provided [RCV000971516] | benign|likely benign | 5 | 150068212 | 150068212 | Human | 2 | name |
| 404981265 | CV3121128 | single nucleotide variant | NM_001288705.3(CSF1R):c.1319+8G>T | not provided [RCV003826120] | likely benign | 5 | 150070174 | 150070174 | Human | | name |
| 405143273 | CV3126061 | single nucleotide variant | NM_001288705.3(CSF1R):c.890-18G>T | not provided [RCV003816977] | likely benign | 5 | 150073511 | 150073511 | Human | | name |
| 405108991 | CV3136759 | single nucleotide variant | NM_001288705.3(CSF1R):c.593-12C>A | not provided [RCV003835913] | likely benign | 5 | 150078260 | 150078260 | Human | | name |
| 405022822 | CV3139303 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-8C>T | not provided [RCV003829946] | likely benign | 5 | 150061603 | 150061603 | Human | | name |
| 405190561 | CV3149665 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+8G>A | not provided [RCV003843391] | likely benign | 5 | 150068207 | 150068207 | Human | | name |
| 405233522 | CV3157963 | single nucleotide variant | NM_001288705.3(CSF1R):c.1627-3C>T | not provided [RCV003865719] | uncertain significance | 5 | 150061852 | 150061852 | Human | | name |
| 405239177 | CV3165852 | single nucleotide variant | NM_001288705.3(CSF1R):c.2132+5C>A | not provided [RCV003866864] | uncertain significance | 5 | 150059695 | 150059695 | Human | | name |
| 405278824 | CV3212695 | single nucleotide variant | NM_001288705.3(CSF1R):c.2763+9G>A | CSF1R-related disorder [RCV003954721]|not specified [RCV004701871] | likely benign | 5 | 150054313 | 150054313 | Human | 1 | name , trait , alternate_id |
| 597846188 | CV3736426 | single nucleotide variant | NM_001288705.3(CSF1R):c.2763+9G>C | not provided [RCV005060004] | likely benign | 5 | 150054313 | 150054313 | Human | | name |
| 597920418 | CV3738077 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+7G>T | not provided [RCV005074676] | likely benign | 5 | 150056212 | 150056212 | Human | | name |
| 597937700 | CV3774741 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-5T>C | not provided [RCV005117774] | likely benign | 5 | 150057597 | 150057597 | Human | | name |
| 597899341 | CV3782581 | single nucleotide variant | NM_001288705.3(CSF1R):c.2764-6C>T | not provided [RCV005126806] | likely benign | 5 | 150054230 | 150054230 | Human | | name |
| 8567938 | CV38767 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-2A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000022686] | pathogenic | 5 | 150061597 | 150061597 | Human | 1 | name |
| 8570064 | CV46937 | single nucleotide variant | NM_001288705.3(CSF1R):c.2320-2A>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031930] | pathogenic | 5 | 150056343 | 150056343 | Human | | name , alternate_id |
| 8570067 | CV46940 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+5G>C | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031933] | pathogenic | 5 | 150056214 | 150056214 | Human | | name , alternate_id |
| 14696639 | CV622959 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-1G>C | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785989] | pathogenic | 5 | 150061596 | 150061596 | Human | 1 | name |
| 15198938 | CV775022 | single nucleotide variant | NM_001288705.3(CSF1R):c.1753+7T>C | not provided [RCV000934958] | benign | 5 | 150061716 | 150061716 | Human | | name |
| 15200396 | CV775150 | single nucleotide variant | NM_001288705.3(CSF1R):c.1199-6C>T | Inborn genetic diseases [RCV002544494]|not provided [RCV000935369] | likely benign|uncertain significance | 5 | 150070308 | 150070308 | Human | 1 | name |
| 28898614 | CV896062 | single nucleotide variant | NM_001288705.3(CSF1R):c.2763+7G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155504] | uncertain significance | 5 | 150054315 | 150054315 | Human | 1 | name |
| 39456345 | CV966615 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+1G>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001257140] | pathogenic | 5 | 150060861 | 150060861 | Human | 1 | name |
| 126730212 | CV1020057 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+19C>A | Hereditary diffuse leukoencephalopathy with spheroids [RCV001333367] | uncertain significance | 5 | 150070437 | 150070437 | Human | 1 | name |
| 150406879 | CV1199935 | single nucleotide variant | NM_001288705.3(CSF1R):c.2222-18C>T | not provided [RCV001579544] | benign|likely benign | 5 | 150057402 | 150057402 | Human | | name |
| 150510471 | CV1211712 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+91C>T | not provided [RCV001597607] | benign | 5 | 150060771 | 150060771 | Human | | name |
| 150452034 | CV1220942 | single nucleotide variant | NM_001288705.3(CSF1R):c.307+154C>T | not provided [RCV001612036] | benign | 5 | 150080613 | 150080613 | Human | | name |
| 150435472 | CV1227237 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-35G>C | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001658349]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001658348]|not provided [RCV001639337] | benign | 5 | 150057627 | 150057627 | Human | 2 | name |
| 150446079 | CV1233285 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970-33A>C | not provided [RCV001645959] | benign | 5 | 150059895 | 150059895 | Human | | name |
| 150436918 | CV1245342 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+23C>T | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001661315]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001661314]|not provided [RCV001713673] | benign | 5 | 150056196 | 150056196 | Human | 2 | name |
| 150492190 | CV1253887 | single nucleotide variant | NM_001288705.3(CSF1R):c.2763+28G>C | not provided [RCV001674983] | benign | 5 | 150054294 | 150054294 | Human | | name |
| 150443429 | CV1266394 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970-69G>T | not provided [RCV001690830] | benign | 5 | 150059931 | 150059931 | Human | | name |
| 150477009 | CV1271984 | deletion | NM_001288705.3(CSF1R):c.1858+37del | not provided [RCV001696269] | benign | 5 | 150061454 | 150061454 | Human | | name |
| 150477566 | CV1272065 | single nucleotide variant | NM_001288705.3(CSF1R):c.729+182T>C | not provided [RCV001696350] | benign | 5 | 150077930 | 150077930 | Human | | name |
| 150477449 | CV1279448 | single nucleotide variant | NM_001288705.3(CSF1R):c.1082+71G>A | not provided [RCV001714133] | benign | 5 | 150073230 | 150073230 | Human | | name |
| 151235470 | CV1318789 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+12G>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV001795607]|not provided [RCV001885225] | uncertain significance | 5 | 150055225 | 150055225 | Human | 1 | name |
| 151235527 | CV1318861 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+13G>A | not provided [RCV001795677] | benign|likely benign | 5 | 150068202 | 150068202 | Human | | name |
| 151235529 | CV1318863 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+16C>T | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002478026]|not provided [RCV001795679] | benign|likely benign | 5 | 150069857 | 150069857 | Human | 1 | name , alternate_id |
| 151774040 | CV1402293 | single nucleotide variant | NM_001288705.3(CSF1R):c.1083-18C>G | not provided [RCV001929802] | likely benign|uncertain significance | 5 | 150070589 | 150070589 | Human | | name |
| 152175701 | CV1527090 | single nucleotide variant | NM_001288705.3(CSF1R):c.2320-20C>T | not provided [RCV002163837] | likely benign | 5 | 150056361 | 150056361 | Human | | name |
| 152103524 | CV1544555 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-13G>A | not provided [RCV002115656] | benign | 5 | 150061608 | 150061608 | Human | | name |
| 152153157 | CV1545277 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+19C>T | not provided [RCV002139829] | likely benign | 5 | 150070437 | 150070437 | Human | | name |
| 152154633 | CV1563649 | single nucleotide variant | NM_001288705.3(CSF1R):c.1858+20G>A | not provided [RCV002202494] | likely benign | 5 | 150061471 | 150061471 | Human | | name |
| 152156959 | CV1586075 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+15G>A | not provided [RCV002140279] | likely benign | 5 | 150056204 | 150056204 | Human | | name |
| 152058940 | CV1595795 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-18T>C | not provided [RCV002090027] | likely benign | 5 | 150060990 | 150060990 | Human | | name |
| 152091252 | CV1602833 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+20G>A | not provided [RCV002194329] | likely benign | 5 | 150055217 | 150055217 | Human | | name |
| 152151240 | CV1605714 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+12G>A | not provided [RCV002102264] | likely benign | 5 | 150070444 | 150070444 | Human | | name |
| 152106787 | CV1609696 | duplication | NM_001288705.3(CSF1R):c.2133-20dup | not provided [RCV002116028] | benign | 5 | 150057611 | 150057612 | Human | | name |
| 152034570 | CV1610619 | single nucleotide variant | NM_001288705.3(CSF1R):c.1082+20G>A | not provided [RCV002125118] | benign | 5 | 150073281 | 150073281 | Human | | name |
| 152085279 | CV1620959 | single nucleotide variant | NM_001288705.3(CSF1R):c.2221+13C>T | not provided [RCV002193550] | likely benign | 5 | 150057491 | 150057491 | Human | | name |
| 152043942 | CV1637766 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+16G>T | not provided [RCV002144862] | benign | 5 | 150070440 | 150070440 | Human | | name |
| 152049786 | CV1657091 | single nucleotide variant | NM_001288705.3(CSF1R):c.1082+19C>T | not provided [RCV002189265] | likely benign | 5 | 150073282 | 150073282 | Human | | name |
| 152090524 | CV1661880 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+16G>A | not provided [RCV002131987] | benign | 5 | 150070440 | 150070440 | Human | | name |
| 156211592 | CV1955783 | single nucleotide variant | NM_001288705.3(CSF1R):c.2222-17G>A | not provided [RCV002575174] | likely benign | 5 | 150057401 | 150057401 | Human | | name |
| 156175244 | CV1968572 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+20G>A | not provided [RCV002594896] | likely benign | 5 | 150070436 | 150070436 | Human | | name |
| 156264903 | CV1977702 | single nucleotide variant | NM_001288705.3(CSF1R):c.1858+16G>A | not provided [RCV002597902] | likely benign | 5 | 150061475 | 150061475 | Human | | name |
| 156322647 | CV1978962 | single nucleotide variant | NM_001288705.3(CSF1R):c.2763+17T>C | not provided [RCV002630452] | likely benign | 5 | 150054305 | 150054305 | Human | | name |
| 156382405 | CV1979013 | single nucleotide variant | NM_001288705.3(CSF1R):c.1198+15C>T | not provided [RCV002604059] | likely benign | 5 | 150070441 | 150070441 | Human | | name |
| 156095084 | CV1980875 | single nucleotide variant | NM_001288705.3(CSF1R):c.1319+20C>T | not provided [RCV002621999] | likely benign | 5 | 150070162 | 150070162 | Human | | name |
| 156013668 | CV1986145 | single nucleotide variant | NM_001288705.3(CSF1R):c.2555-20C>T | not provided [RCV002636353] | likely benign | 5 | 150055356 | 150055356 | Human | | name |
| 156108546 | CV1988580 | single nucleotide variant | NM_001288705.3(CSF1R):c.2222-12T>C | not provided [RCV002622482] | likely benign | 5 | 150057396 | 150057396 | Human | | name |
| 156378356 | CV1996708 | single nucleotide variant | NM_001288705.3(CSF1R):c.1320-16A>G | not provided [RCV002653472] | likely benign | 5 | 150070079 | 150070079 | Human | | name |
| 156247339 | CV2044787 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+17G>A | not provided [RCV002805888] | benign | 5 | 150069856 | 150069856 | Human | | name |
| 156312093 | CV2063487 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970-12T>C | not provided [RCV002834183] | likely benign | 5 | 150059874 | 150059874 | Human | | name |
| 155954356 | CV2166319 | deletion | NM_001288705.3(CSF1R):c.1970-20del | not provided [RCV003015019] | benign | 5 | 150059882 | 150059882 | Human | | name |
| 156145973 | CV2188258 | single nucleotide variant | NM_001288705.3(CSF1R):c.2443-19C>A | not provided [RCV003056360] | likely benign | 5 | 150056156 | 150056156 | Human | | name |
| 243056797 | CV2414936 | single nucleotide variant | NM_005211.4(CSF1R):c.-181+13283G>T | not provided [RCV003143369] | uncertain significance | 5 | 150099978 | 150099978 | Human | | name |
| 402501825 | CV2943793 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754-20G>C | not provided [RCV003661691] | likely benign | 5 | 150061615 | 150061615 | Human | | name |
| 405137951 | CV2963326 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+14T>C | not provided [RCV003668948] | benign | 5 | 150055223 | 150055223 | Human | | name |
| 11591605 | CV296381 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+12C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000330525]|not provided [RCV001516465] | benign|likely benign | 5 | 150068203 | 150068203 | Human | 1 | name |
| 11588019 | CV298247 | microsatellite | NM_005211.4(CSF1R):c.-230GAAGAG[3] | Hereditary diffuse leukoencephalopathy with spheroids [RCV000299451] | benign | 5 | 150113287 | 150113292 | Human | | name |
| 11590848 | CV302324 | single nucleotide variant | NM_001288705.3(CSF1R):c.1319+12C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000323194]|not provided [RCV005055921] | likely benign|uncertain significance | 5 | 150070170 | 150070170 | Human | 1 | name |
| 11654170 | CV302592 | single nucleotide variant | NM_001288705.3(CSF1R):c.1753+15C>T | Hereditary diffuse leukoencephalopathy with spheroids [RCV000315377] | uncertain significance | 5 | 150061708 | 150061708 | Human | 1 | name |
| 405139940 | CV3029798 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+12C>T | not provided [RCV003702420] | likely benign | 5 | 150069861 | 150069861 | Human | | name |
| 405223846 | CV3035844 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+14T>C | not provided [RCV003710366] | likely benign | 5 | 150069859 | 150069859 | Human | | name |
| 405189872 | CV3117987 | single nucleotide variant | NM_001288705.3(CSF1R):c.1199-17C>T | not provided [RCV003820897] | likely benign | 5 | 150070319 | 150070319 | Human | | name |
| 405138936 | CV3130771 | single nucleotide variant | NM_001288705.3(CSF1R):c.2320-12G>A | not provided [RCV003839005] | likely benign | 5 | 150056353 | 150056353 | Human | | name |
| 405048342 | CV3150770 | deletion | NM_001288705.3(CSF1R):c.2655-18del | not provided [RCV003849373] | likely benign | 5 | 150054448 | 150054448 | Human | | name |
| 405243915 | CV3161139 | single nucleotide variant | NM_001288705.3(CSF1R):c.2764-16T>A | not provided [RCV003868048] | uncertain significance | 5 | 150054240 | 150054240 | Human | | name |
| 404998818 | CV3173091 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970-20C>T | not provided [RCV003882374] | likely benign | 5 | 150059882 | 150059882 | Human | | name |
| 597956609 | CV3754681 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-15C>G | not provided [RCV005080531] | likely benign | 5 | 150057607 | 150057607 | Human | | name |
| 597951582 | CV3756484 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-10T>C | not provided [RCV005079541] | likely benign | 5 | 150057602 | 150057602 | Human | | name |
| 597940673 | CV3757260 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-15C>T | not provided [RCV005077445] | likely benign | 5 | 150057607 | 150057607 | Human | | name |
| 597944825 | CV3776701 | single nucleotide variant | NM_001288705.3(CSF1R):c.2222-18C>G | not provided [RCV005119557] | likely benign | 5 | 150057402 | 150057402 | Human | | name |
| 597931061 | CV3789294 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+11T>C | not provided [RCV005131575] | likely benign | 5 | 150060851 | 150060851 | Human | | name |
| 597965824 | CV3797162 | single nucleotide variant | NM_001288705.3(CSF1R):c.1320-13C>T | not provided [RCV005140121] | likely benign | 5 | 150070076 | 150070076 | Human | | name |
| 597952379 | CV3815764 | single nucleotide variant | NM_001288705.3(CSF1R):c.2442+17C>T | not provided [RCV005161517] | likely benign | 5 | 150056202 | 150056202 | Human | | name |
| 597896310 | CV3854038 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+16T>G | not provided [RCV005201322] | likely benign | 5 | 150060846 | 150060846 | Human | | name |
| 597885228 | CV3854785 | single nucleotide variant | NM_001288705.3(CSF1R):c.1753+19A>T | not provided [RCV005199630] | likely benign | 5 | 150061704 | 150061704 | Human | | name |
| 28898881 | CV896063 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510+13C>G | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155616]|not provided [RCV002070912] | likely benign | 5 | 150069860 | 150069860 | Human | 1 | name |
| 150503869 | CV1212569 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-109G>A | not provided [RCV001595444] | benign | 5 | 150061081 | 150061081 | Human | | name |
| 150505250 | CV1213482 | single nucleotide variant | NM_001288705.3(CSF1R):c.2133-160G>A | not provided [RCV001595738] | benign | 5 | 150057752 | 150057752 | Human | | name |
| 150464384 | CV1214934 | single nucleotide variant | NM_001288705.3(CSF1R):c.1511-167C>T | not provided [RCV001613931] | benign | 5 | 150068497 | 150068497 | Human | | name |
| 150451213 | CV1220831 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+182C>T | not provided [RCV001611925] | benign | 5 | 150060680 | 150060680 | Human | | name |
| 150432908 | CV1231584 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970-163A>G | not provided [RCV001643246] | benign | 5 | 150060025 | 150060025 | Human | | name |
| 150455314 | CV1232429 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+311G>A | not provided [RCV001648443] | benign | 5 | 150060551 | 150060551 | Human | | name |
| 150464124 | CV1237734 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-188C>T | not provided [RCV001649741] | benign | 5 | 150061160 | 150061160 | Human | | name |
| 150446080 | CV1250614 | single nucleotide variant | NM_001288705.3(CSF1R):c.2654+116A>C | not provided [RCV001667118] | benign | 5 | 150055121 | 150055121 | Human | | name |
| 150498305 | CV1255557 | single nucleotide variant | NM_001288705.3(CSF1R):c.1626+150T>C | not provided [RCV001676345] | benign | 5 | 150068065 | 150068065 | Human | | name |
| 150506908 | CV1258084 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+264C>T | not provided [RCV001678301] | benign | 5 | 150060598 | 150060598 | Human | | name |
| 150479252 | CV1258225 | single nucleotide variant | NM_001288705.3(CSF1R):c.2319+164A>C | not provided [RCV001685641] | benign | 5 | 150057123 | 150057123 | Human | | name |
| 150480530 | CV1258453 | single nucleotide variant | NM_001288705.3(CSF1R):c.1083-124C>T | not provided [RCV001685872] | benign | 5 | 150070695 | 150070695 | Human | | name |
| 150488815 | CV1265308 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-204T>C | not provided [RCV001687344] | benign | 5 | 150061176 | 150061176 | Human | 1 | name |
| 150488815 | CV1265308 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-204T>C | not provided [RCV001687344] | benign | 5 | 150061176 | 150061177 | Human | 1 | name |
| 150442675 | CV1266270 | single nucleotide variant | NM_001288705.3(CSF1R):c.1858+203A>G | not provided [RCV001690706] | benign | 5 | 150061288 | 150061288 | Human | | name |
| 150439372 | CV1266762 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-242C>T | not provided [RCV001690197] | benign | 5 | 150061214 | 150061214 | Human | | name |
| 405279497 | CV3217544 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+125C>T | CSF1R-related disorder [RCV003976934] | likely benign | 5 | 150060737 | 150060737 | Human | | name , trait , alternate_id |
| 408377470 | CV3507817 | single nucleotide variant | NM_001288705.3(CSF1R):c.1969+110G>A | CSF1R-related disorder [RCV004751009] | likely benign | 5 | 150060752 | 150060752 | Human | | name , trait , alternate_id |
| 14696637 | CV622956 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859-119G>A | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785986]|not specified [RCV002469289] | pathogenic|uncertain significance | 5 | 150061091 | 150061091 | Human | 1 | name |
| 152111078 | CV1582201 | microsatellite | NM_001288705.3(CSF1R):c.1083-12TC[2] | not provided [RCV002080255] | likely benign | 5 | 150070578 | 150070579 | Human | | name |
| 11635720 | CV302307 | duplication | NM_001288705.3(CSF1R):c.*232_*233dup | Hereditary diffuse leukoencephalopathy with spheroids [RCV000387788] | uncertain significance | 5 | 150053835 | 150053836 | Human | 1 | name |
| 11594973 | CV302521 | deletion | NM_001288705.3(CSF1R):c.*721_*724del | Hereditary diffuse leukoencephalopathy with spheroids [RCV000365395] | likely benign | 5 | 150053345 | 150053348 | Human | 1 | name |
| 156024429 | CV2020010 | microsatellite | NM_001288705.3(CSF1R):c.1199-20CCT[2] | not provided [RCV002691156] | likely benign | 5 | 150070314 | 150070316 | Human | | name |
| 11587206 | CV302563 | insertion | NM_001288705.3(CSF1R):c.*231_*232insG | Hereditary diffuse leukoencephalopathy with spheroids [RCV000293565] | benign | 5 | 150053837 | 150053838 | Human | 1 | name |
| 405245155 | CV3054744 | microsatellite | NM_001288705.3(CSF1R):c.308-11_308-9del | not provided [RCV003720108] | likely benign | 5 | 150080345 | 150080347 | Human | | name |
| 38597849 | CV964244 | indel | NM_001288705.3(CSF1R):c.*35_*36delinsTC | Hereditary diffuse leukoencephalopathy with spheroids [RCV001253216] | uncertain significance | 5 | 150054033 | 150054034 | Human | | name |
| 152091413 | CV1595873 | duplication | NM_001288705.3(CSF1R):c.1199-10_1199-7dup | not provided [RCV002077761] | likely benign | 5 | 150070308 | 150070309 | Human | | name |
| 156407657 | CV1957567 | deletion | NM_001288705.3(CSF1R):c.2655-18_2655-16del | not provided [RCV002586295] | likely benign | 5 | 150054446 | 150054448 | Human | | name |
| 14696638 | CV622958 | deletion | NM_001288705.3(CSF1R):c.1969+115_1969+116del | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785988]|not provided [RCV003329339] | pathogenic|likely pathogenic | 5 | 150060746 | 150060747 | Human | 1 | name |
| 402502837 | CV2932648 | indel | NM_001288705.3(CSF1R):c.1754-4_1754-3delinsAG | not provided [RCV003574176] | uncertain significance | 5 | 150061598 | 150061599 | Human | | name |
| 150407914 | CV1199936 | single nucleotide variant | NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) | CSF1R-related disorder [RCV003966225]|Inborn genetic diseases [RCV005320826]|not provided [RCV001579959] | uncertain significance | 5 | 150060918 | 150060918 | Human | 2 | name , trait , alternate_id |
| 150438151 | CV1286798 | single nucleotide variant | NM_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 pathogenic | 5 | 150056317 | 150056317 | Human | 1 | name , trait , alternate_id |
| 151235522 | CV1318856 | single nucleotide variant | NM_001288705.3(CSF1R):c.819C>T (p.Ala273=) | CSF1R-related disorder [RCV003913379]|not provided [RCV001795672] | likely benign | 5 | 150077346 | 150077346 | Human | 1 | name , trait , alternate_id |
| 151751021 | CV1359195 | single nucleotide variant | NM_001288705.3(CSF1R):c.2007C>T (p.Gly669=) | CSF1R-related disorder [RCV003893031]|not provided [RCV001969189] | likely benign|uncertain significance | 5 | 150059825 | 150059825 | Human | 1 | name , trait , alternate_id |
| 151811922 | CV1371482 | single nucleotide variant | NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys) | CSF1R-related disorder [RCV003395282]|not provided [RCV001933289] | likely benign|uncertain significance | 5 | 150073459 | 150073459 | Human | 1 | name , trait , alternate_id |
| 151718906 | CV1458775 | single nucleotide variant | NM_001288705.3(CSF1R):c.200G>A (p.Ser67Asn) | CSF1R-related disorder [RCV004752122]|not provided [RCV002003354] | uncertain significance | 5 | 150080874 | 150080874 | Human | 1 | name , trait , alternate_id |
| 151720050 | CV1505981 | single nucleotide variant | NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) | CSF1R-related disorder [RCV003416498]|not provided [RCV002039941] | likely pathogenic|uncertain significance | 5 | 150056269 | 150056269 | Human | 1 | name , trait , alternate_id |
| 152082596 | CV1526216 | single nucleotide variant | NM_001288705.3(CSF1R):c.1517A>C (p.His506Pro) | CSF1R-related disorder [RCV003958513]|Inborn genetic diseases [RCV004045042]|not provided [RCV002170735] | likely benign|uncertain significance | 5 | 150068324 | 150068324 | Human | 2 | name , trait , alternate_id |
| 152129656 | CV1549335 | single nucleotide variant | NM_001288705.3(CSF1R):c.993G>A (p.Leu331=) | CSF1R-related disorder [RCV003895877]|not provided [RCV002099309] | likely benign | 5 | 150073390 | 150073390 | Human | 1 | name , trait , alternate_id |
| 152116009 | CV1553333 | single nucleotide variant | NM_001288705.3(CSF1R):c.237G>A (p.Thr79=) | CSF1R-related disorder [RCV003408113]|not provided [RCV002080902] | likely benign|uncertain significance | 5 | 150080837 | 150080837 | Human | 1 | name , trait , alternate_id |
| 152091811 | CV1567673 | single nucleotide variant | NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu) | CSF1R-related disorder [RCV003950955]|not provided [RCV002212830] | likely benign|uncertain significance | 5 | 150080174 | 150080174 | Human | 1 | name , trait , alternate_id |
| 152029780 | CV1568667 | single nucleotide variant | NM_001288705.3(CSF1R):c.1692C>T (p.Ile564=) | CSF1R-related disorder [RCV004750712]|not provided [RCV002186274] | likely benign | 5 | 150061784 | 150061784 | Human | 1 | name , trait , alternate_id |
| 152109199 | CV1604213 | single nucleotide variant | NM_001288705.3(CSF1R):c.93C>A (p.Val31=) | CSF1R-related disorder [RCV003941262]|not provided [RCV002080015] | likely benign | 5 | 150080981 | 150080981 | Human | 1 | name , trait , alternate_id |
| 152108751 | CV1643655 | single nucleotide variant | NM_001288705.3(CSF1R):c.2253G>A (p.Glu751=) | CSF1R-related disorder [RCV004752157]|not provided [RCV002096551] | likely benign | 5 | 150057353 | 150057353 | Human | 1 | name , trait , alternate_id |
| 9687357 | CV171840 | single nucleotide variant | NM_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 provided | 5 | 150056331 | 150056331 | Human | 1 | name , trait , alternate_id |
| 156016987 | CV1912894 | single nucleotide variant | NM_001288705.3(CSF1R):c.2208C>T (p.Ser736=) | CSF1R-related disorder [RCV004750830]|not provided [RCV002619195] | likely benign | 5 | 150057517 | 150057517 | Human | 1 | name , trait , alternate_id |
| 156407644 | CV1915024 | single nucleotide variant | NM_001288705.3(CSF1R):c.1316A>C (p.Asp439Ala) | CSF1R-related disorder [RCV004750837]|not provided [RCV002606958] | uncertain significance | 5 | 150070185 | 150070185 | Human | 1 | name , trait , alternate_id |
| 156435916 | CV1937235 | single nucleotide variant | NM_001288705.3(CSF1R):c.2343G>A (p.Ala781=) | CSF1R-related disorder [RCV003900939]|not provided [RCV003105097] | benign|likely benign | 5 | 150056318 | 150056318 | Human | 1 | name , trait , alternate_id |
| 156169175 | CV1971667 | single nucleotide variant | NM_001288705.3(CSF1R):c.2128C>T (p.Arg710Cys) | CSF1R-related disorder [RCV004750751]|Inborn genetic diseases [RCV002594717]|not provided [RCV002603824] | uncertain significance | 5 | 150059704 | 150059704 | Human | 2 | name , trait , alternate_id |
| 156294698 | CV2111590 | single nucleotide variant | NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp) | CSF1R-related disorder [RCV003418646]|not provided [RCV002922297] | likely benign|uncertain significance | 5 | 150057349 | 150057349 | Human | 1 | name , trait , alternate_id |
| 156157702 | CV2140547 | single nucleotide variant | NM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys) | CSF1R-related disorder [RCV003916708]|not provided [RCV003004945] | benign|likely benign | 5 | 150069887 | 150069887 | Human | 1 | name , trait , alternate_id |
| 401925900 | CV2796330 | single nucleotide variant | NM_001288705.3(CSF1R):c.1492T>C (p.Phe498Leu) | CSF1R-related disorder [RCV003405787] | uncertain significance | 5 | 150069891 | 150069891 | Human | | name , trait , alternate_id |
| 405123779 | CV2942609 | single nucleotide variant | NM_001288705.3(CSF1R):c.1704G>A (p.Gln568=) | CSF1R-related disorder [RCV003966548]|not provided [RCV003671752] | likely benign | 5 | 150061772 | 150061772 | Human | 1 | name , trait , alternate_id |
| 11588305 | CV296374 | single nucleotide variant | NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) | CSF1R-related disorder [RCV003970025]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000302042]|not provided [RCV001357348] | benign|likely benign | 5 | 150054126 | 150054126 | Human | 1 | name , trait , alternate_id |
| 11582350 | CV296377 | single nucleotide variant | NM_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 benign | 5 | 150060902 | 150060902 | Human | 2 | name , trait , alternate_id |
| 11597467 | CV296393 | single nucleotide variant | NM_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 significance | 5 | 150077284 | 150077284 | Human | 1 | name , trait , alternate_id |
| 11598335 | CV296402 | single nucleotide variant | NM_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 benign | 5 | 150080882 | 150080882 | Human | 2 | name , trait , alternate_id |
| 11582753 | CV298208 | single nucleotide variant | NM_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 benign | 5 | 150054189 | 150054189 | Human | 1 | name , trait , alternate_id |
| 11597032 | CV298211 | single nucleotide variant | NM_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 significance | 5 | 150054323 | 150054323 | Human | 2 | name , trait , alternate_id |
| 11596727 | CV298212 | single nucleotide variant | NM_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 benign | 5 | 150054376 | 150054376 | Human | 1 | name , trait , alternate_id |
| 11595116 | CV298231 | single nucleotide variant | NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile) | CSF1R-related disorder [RCV003957819]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000367035]|not provided [RCV000897858] | benign|likely benign | 5 | 150077363 | 150077363 | Human | 1 | name , trait , alternate_id |
| 11584757 | CV302310 | single nucleotide variant | NM_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 significance | 5 | 150054324 | 150054324 | Human | 1 | name , trait , alternate_id |
| 11598175 | CV302327 | single nucleotide variant | NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=) | CSF1R-related disorder [RCV003970026]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000402541]|not provided [RCV000899955] | likely benign|uncertain significance | 5 | 150070543 | 150070543 | Human | 1 | name , trait , alternate_id |
| 11589632 | CV302336 | single nucleotide variant | NM_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 benign | 5 | 150077330 | 150077330 | Human | 1 | name , trait , alternate_id |
| 11598144 | CV302337 | single nucleotide variant | NM_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 significance | 5 | 150077401 | 150077401 | Human | 2 | name , trait , alternate_id |
| 11590252 | CV302376 | single nucleotide variant | NM_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 benign | 5 | 150080792 | 150080792 | Human | 1 | name , trait , alternate_id |
| 11583329 | CV302585 | single nucleotide variant | NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) | CSF1R-related disorder [RCV003932442]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000265478]|not provided [RCV002058516] | likely benign|uncertain significance | 5 | 150054102 | 150054102 | Human | 1 | name , trait , alternate_id |
| 11592848 | CV302590 | single nucleotide variant | NM_001288705.3(CSF1R):c.2258G>A (p.Arg753Gln) | CSF1R-related disorder [RCV004751491]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000342657]|not provided [RCV002058519] | benign|likely benign | 5 | 150057348 | 150057348 | Human | 1 | name , trait , alternate_id |
| 11593204 | CV302651 | single nucleotide variant | NM_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 pathogenicity | 5 | 150080979 | 150080979 | Human | 3 | name , trait , alternate_id |
| 11593204 | CV302651 | single nucleotide variant | NM_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 pathogenicity | 5 | 150080979 | 150080980 | Human | 3 | name , trait , alternate_id |
| 405228181 | CV3143014 | single nucleotide variant | NM_001288705.3(CSF1R):c.1125G>A (p.Glu375=) | CSF1R-related disorder [RCV003921376]|not provided [RCV003848357] | benign|likely benign | 5 | 150070529 | 150070529 | Human | 1 | name , trait , alternate_id |
| 405054885 | CV3151437 | single nucleotide variant | NM_001288705.3(CSF1R):c.1816A>G (p.Lys606Glu) | CSF1R-related disorder [RCV003984442]|not provided [RCV003849846] | uncertain significance | 5 | 150061533 | 150061533 | Human | 1 | name , trait , alternate_id |
| 405273749 | CV3198137 | single nucleotide variant | NM_001288705.3(CSF1R):c.966A>G (p.Lys322=) | CSF1R-related disorder [RCV003901908] | likely benign | 5 | 150073417 | 150073417 | Human | | name , trait , alternate_id |
| 405268717 | CV3201122 | duplication | NM_001288705.3(CSF1R):c.306dup (p.Asp103fs) | CSF1R-related disorder [RCV003899230] | uncertain significance | 5 | 150080767 | 150080768 | Human | | name , trait , alternate_id |
| 405267120 | CV3202196 | single nucleotide variant | NM_001288705.3(CSF1R):c.684C>T (p.Ser228=) | CSF1R-related disorder [RCV003911665] | likely benign | 5 | 150078157 | 150078157 | Human | | name , trait , alternate_id |
| 405294552 | CV3209067 | single nucleotide variant | NM_001288705.3(CSF1R):c.1685C>G (p.Thr562Ser) | CSF1R-related disorder [RCV003934498] | uncertain significance | 5 | 150061791 | 150061791 | Human | | name , trait , alternate_id |
| 405282019 | CV3216213 | single nucleotide variant | NM_001288705.3(CSF1R):c.528A>G (p.Gln176=) | CSF1R-related disorder [RCV003956736] | likely benign | 5 | 150080116 | 150080116 | Human | | name , trait , alternate_id |
| 405261341 | CV3221489 | single nucleotide variant | NM_001288705.3(CSF1R):c.1647C>T (p.Arg549=) | CSF1R-related disorder [RCV003966966] | likely benign | 5 | 150061829 | 150061829 | Human | | name , trait , alternate_id |
| 408377606 | CV3509935 | single nucleotide variant | NM_001288705.3(CSF1R):c.1078T>C (p.Tyr360His) | CSF1R-related disorder [RCV004751112] | uncertain significance | 5 | 150073305 | 150073305 | Human | | name , trait , alternate_id |
| 408378988 | CV3518060 | single nucleotide variant | NM_001288705.3(CSF1R):c.1530G>A (p.Pro510=) | CSF1R-related disorder [RCV004752535] | likely benign | 5 | 150068311 | 150068311 | Human | | name , trait , alternate_id |
| 12743212 | CV361455 | single nucleotide variant | NM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly) | CSF1R-related disorder [RCV003957891]|not provided [RCV000416171] | uncertain significance | 5 | 150055285 | 150055285 | Human | 1 | name , trait , alternate_id |
| 8567939 | CV38768 | single nucleotide variant | NM_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 pathogenic | 5 | 150056280 | 150056280 | Human | 1 | name , trait , alternate_id |
| 15172066 | CV721299 | single nucleotide variant | NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met) | CSF1R-related disorder [RCV003948340]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001155614]|not provided [RCV000883769] | benign | 5 | 150068289 | 150068289 | Human | 1 | name , trait , alternate_id |
| 15194241 | CV749337 | single nucleotide variant | NM_001288705.3(CSF1R):c.2082G>A (p.Glu694=) | CSF1R-related disorder [RCV003902885]|not provided [RCV000911068] | likely benign | 5 | 150059750 | 150059750 | Human | 1 | name , trait , alternate_id |
| 15158802 | CV749341 | single nucleotide variant | NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) | CSF1R-related disorder [RCV003960437]|not provided [RCV000925151] | benign|likely benign | 5 | 150080276 | 150080276 | Human | 1 | name , trait , alternate_id |
| 28888314 | CV893592 | single nucleotide variant | NM_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 significance | 5 | 150059703 | 150059703 | Human | 1 | name , trait , alternate_id |
| 28888654 | CV893600 | single nucleotide variant | NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr) | CSF1R-related disorder [RCV003953537]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001151837]|not provided [RCV001858996] | likely benign | 5 | 150073488 | 150073488 | Human | 1 | name , trait , alternate_id |
| 38463855 | CV961273 | single nucleotide variant | NM_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 provided | 5 | 150061584 | 150061584 | Human | 1 | name , trait , alternate_id |
| 152120015 | CV1547193 | single nucleotide variant | NM_001288705.3(CSF1R):c.21G>T (p.Leu7=) | not provided [RCV002154134] | likely benign | 5 | 150086407 | 150086407 | Human | | name |
| 156040041 | CV2089596 | single nucleotide variant | NM_001288705.3(CSF1R):c.24C>T (p.Leu8=) | not provided [RCV002867405] | likely benign | 5 | 150086404 | 150086404 | Human | | name |
| 127302568 | CV1154962 | single nucleotide variant | NM_001288705.3(CSF1R):c.93C>T (p.Val31=) | not provided [RCV001515107] | benign | 5 | 150080981 | 150080981 | Human | | name |
| 152085297 | CV1617250 | single nucleotide variant | NM_001288705.3(CSF1R):c.87G>A (p.Glu29=) | not provided [RCV002076903] | likely benign | 5 | 150080987 | 150080987 | Human | | name |
| 156065874 | CV1975415 | single nucleotide variant | NM_001288705.3(CSF1R):c.72G>A (p.Glu24=) | not provided [RCV002591126] | likely benign | 5 | 150081002 | 150081002 | Human | | name |
| 11597609 | CV302657 | single nucleotide variant | NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662319]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000395882]|not provided [RCV001522249] | benign | 5 | 150080990 | 150080990 | Human | 2 | name |
| 15112072 | CV764967 | single nucleotide variant | NM_001288705.3(CSF1R):c.42T>G (p.Ala14=) | not provided [RCV000938870] | likely benign | 5 | 150086386 | 150086386 | Human | | name |
| 152045342 | CV1590685 | single nucleotide variant | NM_001288705.3(CSF1R):c.267C>T (p.Asp89=) | not provided [RCV002108279] | likely benign | 5 | 150080807 | 150080807 | Human | | name |
| 156113358 | CV1871185 | single nucleotide variant | NM_001288705.3(CSF1R):c.132C>T (p.Gly44=) | not provided [RCV003081140] | likely benign | 5 | 150080942 | 150080942 | Human | | name |
| 156102021 | CV1907170 | single nucleotide variant | NM_001288705.3(CSF1R):c.111G>A (p.Thr37=) | not provided [RCV003080637] | likely benign | 5 | 150080963 | 150080963 | Human | | name |
| 156209008 | CV1913391 | single nucleotide variant | NM_001288705.3(CSF1R):c.234C>T (p.Asn78=) | not provided [RCV002595993] | likely benign | 5 | 150080840 | 150080840 | Human | | name |
| 156265814 | CV1960860 | single nucleotide variant | NM_001288705.3(CSF1R):c.141C>T (p.Ser47=) | not provided [RCV002577000]|not specified [RCV004587360] | likely benign | 5 | 150080933 | 150080933 | Human | | name |
| 156380136 | CV2060725 | single nucleotide variant | NM_001288705.3(CSF1R):c.297C>G (p.Leu99=) | not provided [RCV002815025] | likely benign | 5 | 150080777 | 150080777 | Human | | name |
| 156123847 | CV2088223 | single nucleotide variant | NM_001288705.3(CSF1R):c.222T>C (p.Ala74=) | not provided [RCV002871372] | likely benign | 5 | 150080852 | 150080852 | Human | | name |
| 243051712 | CV2416797 | duplication | NM_001288705.3(CSF1R):c.69dup (p.Glu24fs) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003150922] | likely pathogenic | 5 | 150081004 | 150081005 | Human | 1 | name |
| 11585401 | CV302358 | single nucleotide variant | NM_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 pathogenicity | 5 | 150080780 | 150080780 | Human | 1 | name |
| 11587283 | CV302379 | single nucleotide variant | NM_001288705.3(CSF1R):c.178C>T (p.Leu60=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000293790]|not provided [RCV000970309] | benign|likely benign | 5 | 150080896 | 150080896 | Human | 1 | name |
| 11588923 | CV302380 | single nucleotide variant | NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000306661] | likely benign|uncertain significance | 5 | 150086415 | 150086415 | Human | 1 | name |
| 11587596 | CV302650 | single nucleotide variant | NM_001288705.3(CSF1R):c.225C>T (p.Thr75=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000296207]|not provided [RCV002520346] | benign|likely benign | 5 | 150080849 | 150080849 | Human | 1 | name |
| 405137398 | CV3125371 | single nucleotide variant | NM_001288705.3(CSF1R):c.186T>C (p.Ser62=) | not provided [RCV003816478] | likely benign | 5 | 150080888 | 150080888 | Human | | name |
| 405253390 | CV3174433 | single nucleotide variant | NM_001288705.3(CSF1R):c.285C>T (p.Ala95=) | not provided [RCV003871062] | likely benign | 5 | 150080789 | 150080789 | Human | | name |
| 597887738 | CV3741936 | single nucleotide variant | NM_001288705.3(CSF1R):c.285C>G (p.Ala95=) | not provided [RCV005070656] | likely benign | 5 | 150080789 | 150080789 | Human | | name |
| 15107065 | CV782221 | single nucleotide variant | NM_001288705.3(CSF1R):c.219C>T (p.Asn73=) | not provided [RCV000976748] | likely benign | 5 | 150080855 | 150080855 | Human | | name |
| 28903061 | CV893606 | single nucleotide variant | NM_001288705.3(CSF1R):c.195C>T (p.Ser65=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157390] | uncertain significance | 5 | 150080879 | 150080879 | Human | 1 | name |
| 127328817 | CV1136673 | single nucleotide variant | NM_001288705.3(CSF1R):c.945G>A (p.Val315=) | not provided [RCV001486985] | likely benign | 5 | 150073438 | 150073438 | Human | | name |
| 150551713 | CV1297529 | single nucleotide variant | NM_001288705.3(CSF1R):c.92T>A (p.Val31Asp) | not provided [RCV001767213] | uncertain significance | 5 | 150080982 | 150080982 | Human | | name |
| 151816031 | CV1344391 | single nucleotide variant | NM_001288705.3(CSF1R):c.61C>T (p.Pro21Ser) | not provided [RCV001919088] | uncertain significance | 5 | 150081013 | 150081013 | Human | | name |
| 151794162 | CV1348120 | duplication | NM_001288705.3(CSF1R):c.161dup (p.Ser55fs) | not provided [RCV001876787] | pathogenic|uncertain significance | 5 | 150080912 | 150080913 | Human | | name |
| 151874918 | CV1388245 | single nucleotide variant | NM_001288705.3(CSF1R):c.948G>T (p.Gly316=) | not provided [RCV001981778] | likely benign|uncertain significance | 5 | 150073435 | 150073435 | Human | | name |
| 152075595 | CV1528202 | single nucleotide variant | NM_001288705.3(CSF1R):c.846C>T (p.Asn282=) | not provided [RCV002112057] | likely benign | 5 | 150077319 | 150077319 | Human | | name |
| 152106455 | CV1560087 | single nucleotide variant | NM_001288705.3(CSF1R):c.94G>A (p.Val32Met) | not provided [RCV002133914] | likely benign | 5 | 150080980 | 150080980 | Human | | name |
| 152164313 | CV1560599 | single nucleotide variant | NM_001288705.3(CSF1R):c.489C>A (p.Thr163=) | not provided [RCV002160221] | likely benign | 5 | 150080155 | 150080155 | Human | | name |
| 152096507 | CV1565941 | single nucleotide variant | NM_001288705.3(CSF1R):c.327C>T (p.Asn109=) | not provided [RCV002094913] | likely benign | 5 | 150080317 | 150080317 | Human | | name |
| 152138523 | CV1570920 | single nucleotide variant | NM_001288705.3(CSF1R):c.759T>C (p.His253=) | not provided [RCV002120038] | likely benign | 5 | 150077406 | 150077406 | Human | | name |
| 152127465 | CV1572090 | single nucleotide variant | NM_001288705.3(CSF1R):c.666C>T (p.Ile222=) | not provided [RCV002217606] | likely benign | 5 | 150078175 | 150078175 | Human | | name |
| 152151297 | CV1578086 | single nucleotide variant | NM_001288705.3(CSF1R):c.942C>T (p.Thr314=) | not provided [RCV002158234] | benign|likely benign | 5 | 150073441 | 150073441 | Human | | name |
| 152144002 | CV1582455 | single nucleotide variant | NM_001288705.3(CSF1R):c.366C>T (p.Asp122=) | not provided [RCV002200956] | likely benign | 5 | 150080278 | 150080278 | Human | | name |
| 152085647 | CV1599248 | single nucleotide variant | NM_001288705.3(CSF1R):c.375G>A (p.Leu125=) | not provided [RCV002093442] | benign | 5 | 150080269 | 150080269 | Human | | name |
| 156409809 | CV1922893 | single nucleotide variant | NM_001288705.3(CSF1R):c.864C>T (p.Ser288=) | not provided [RCV002607666] | benign | 5 | 150077301 | 150077301 | Human | | name |
| 156044359 | CV1977970 | single nucleotide variant | NM_001288705.3(CSF1R):c.471G>A (p.Ser157=) | not provided [RCV002590444] | likely benign | 5 | 150080173 | 150080173 | Human | | name |
| 156322005 | CV1992125 | single nucleotide variant | NM_001288705.3(CSF1R):c.927C>A (p.Leu309=) | not provided [RCV002649312] | likely benign | 5 | 150073456 | 150073456 | Human | | name |
| 156351545 | CV2019055 | single nucleotide variant | NM_001288705.3(CSF1R):c.705C>A (p.Val235=) | not provided [RCV002720220] | likely benign|uncertain significance | 5 | 150078136 | 150078136 | Human | | name |
| 156046581 | CV2030900 | single nucleotide variant | NM_001288705.3(CSF1R):c.945G>C (p.Val315=) | not provided [RCV002736370] | likely benign | 5 | 150073438 | 150073438 | Human | | name |
| 156118915 | CV2115857 | single nucleotide variant | NM_001288705.3(CSF1R):c.462C>T (p.Tyr154=) | not provided [RCV002927733] | likely benign | 5 | 150080182 | 150080182 | Human | | name |
| 156311785 | CV2165486 | single nucleotide variant | NM_001288705.3(CSF1R):c.465C>T (p.Ser155=) | not provided [RCV003028624] | likely benign | 5 | 150080179 | 150080179 | Human | | name |
| 405093512 | CV2947194 | single nucleotide variant | NM_001288705.3(CSF1R):c.70G>C (p.Glu24Gln) | not provided [RCV003665458] | uncertain significance | 5 | 150081004 | 150081004 | Human | | name |
| 405202237 | CV2989124 | single nucleotide variant | NM_001288705.3(CSF1R):c.41C>T (p.Ala14Val) | not provided [RCV003678296] | uncertain significance | 5 | 150086387 | 150086387 | Human | | name |
| 11583769 | CV302347 | single nucleotide variant | NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662318]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000268833]|not provided [RCV001521046] | benign | 5 | 150078115 | 150078115 | Human | 2 | name |
| 405201210 | CV3066737 | single nucleotide variant | NM_001288705.3(CSF1R):c.396G>A (p.Pro132=) | not provided [RCV003730714] | likely benign | 5 | 150080248 | 150080248 | Human | | name |
| 405026981 | CV3129724 | single nucleotide variant | NM_001288705.3(CSF1R):c.318G>A (p.Arg106=) | not provided [RCV003830322] | likely benign | 5 | 150080326 | 150080326 | Human | | name |
| 404994296 | CV3132564 | single nucleotide variant | NM_001288705.3(CSF1R):c.732C>T (p.Leu244=) | not provided [RCV003827503] | likely benign | 5 | 150077433 | 150077433 | Human | | name |
| 405200633 | CV3143467 | single nucleotide variant | NM_001288705.3(CSF1R):c.957C>T (p.Leu319=) | not provided [RCV003844453] | likely benign | 5 | 150073426 | 150073426 | Human | | name |
| 405219252 | CV3154235 | single nucleotide variant | NM_001288705.3(CSF1R):c.963C>A (p.Leu321=) | not provided [RCV003846927] | likely benign | 5 | 150073420 | 150073420 | Human | | name |
| 405129165 | CV3163315 | single nucleotide variant | NM_001288705.3(CSF1R):c.735A>G (p.Ala245=) | not provided [RCV003854496] | likely benign | 5 | 150077430 | 150077430 | Human | | name |
| 405094759 | CV3164199 | single nucleotide variant | NM_001288705.3(CSF1R):c.933G>A (p.Gln311=) | not provided [RCV003852514] | likely benign | 5 | 150073450 | 150073450 | Human | | name |
| 402485939 | CV3171398 | single nucleotide variant | NM_001288705.3(CSF1R):c.411C>T (p.Gly137=) | not provided [RCV003876425] | likely benign | 5 | 150080233 | 150080233 | Human | | name |
| 405252166 | CV3177640 | single nucleotide variant | NM_001288705.3(CSF1R):c.369A>C (p.Ala123=) | not provided [RCV003870598] | likely benign | 5 | 150080275 | 150080275 | Human | | name |
| 597830975 | CV3743726 | single nucleotide variant | NM_001288705.3(CSF1R):c.453C>T (p.His151=) | not provided [RCV005062543] | likely benign | 5 | 150080191 | 150080191 | Human | | name |
| 597874702 | CV3747467 | single nucleotide variant | NM_001288705.3(CSF1R):c.795C>G (p.Leu265=) | not provided [RCV005069151] | likely benign | 5 | 150077370 | 150077370 | Human | | name |
| 597892388 | CV3763132 | single nucleotide variant | NM_001288705.3(CSF1R):c.945G>T (p.Val315=) | not provided [RCV005110904] | likely benign | 5 | 150073438 | 150073438 | Human | | name |
| 597933702 | CV3863325 | single nucleotide variant | NM_001288705.3(CSF1R):c.384G>A (p.Leu128=) | not provided [RCV005206851] | likely benign | 5 | 150080260 | 150080260 | Human | | name |
| 616934159 | CV4012173 | single nucleotide variant | NM_001288705.3(CSF1R):c.393C>T (p.Asp131=) | not specified [RCV005409207] | likely benign | 5 | 150080251 | 150080251 | Human | | name |
| 15157478 | CV698919 | single nucleotide variant | NM_001288705.3(CSF1R):c.417G>A (p.Ser139=) | not provided [RCV000946891] | benign | 5 | 150080227 | 150080227 | Human | | name |
| 15106530 | CV764966 | single nucleotide variant | NM_001288705.3(CSF1R):c.456C>T (p.Thr152=) | not provided [RCV000937797] | likely benign | 5 | 150080188 | 150080188 | Human | | name |
| 15120419 | CV782219 | single nucleotide variant | NM_001288705.3(CSF1R):c.483C>G (p.Gly161=) | not provided [RCV000979290] | likely benign | 5 | 150080161 | 150080161 | Human | | name |
| 15137052 | CV782220 | single nucleotide variant | NM_001288705.3(CSF1R):c.348C>T (p.Val116=) | not provided [RCV000982221] | likely benign | 5 | 150080296 | 150080296 | Human | | name |
| 28892198 | CV893603 | single nucleotide variant | NM_001288705.3(CSF1R):c.354C>T (p.Phe118=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001153081] | uncertain significance | 5 | 150080290 | 150080290 | Human | 1 | name |
| 126731233 | CV1000468 | single nucleotide variant | NM_001288705.3(CSF1R):c.1974T>C (p.Pro658=) | not provided [RCV001310529] | likely benign | 5 | 150059858 | 150059858 | Human | | name |
| 126730208 | CV1020058 | single nucleotide variant | NM_001288705.3(CSF1R):c.1131C>T (p.Gly377=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001333366]|not provided [RCV002070174] | likely benign|uncertain significance | 5 | 150070523 | 150070523 | Human | 1 | name |
| 127318121 | CV1154960 | single nucleotide variant | NM_001288705.3(CSF1R):c.1872T>G (p.Ala624=) | not provided [RCV001521499] | benign | 5 | 150060959 | 150060959 | Human | | name |
| 150537022 | CV1314455 | deletion | NM_001288705.3(CSF1R):c.840del (p.Ser281fs) | not provided [RCV001780884] | likely pathogenic | 5 | 150077325 | 150077325 | Human | | name |
| 151890670 | CV1350609 | single nucleotide variant | NM_001288705.3(CSF1R):c.238G>T (p.Gly80Trp) | not provided [RCV002038874] | uncertain significance | 5 | 150080836 | 150080836 | Human | | name |
| 151837103 | CV1392124 | single nucleotide variant | NM_001288705.3(CSF1R):c.158C>A (p.Pro53His) | not provided [RCV001902413] | uncertain significance | 5 | 150080916 | 150080916 | Human | | name |
| 151800952 | CV1405399 | single nucleotide variant | NM_001288705.3(CSF1R):c.158C>T (p.Pro53Leu) | not provided [RCV001899056] | uncertain significance | 5 | 150080916 | 150080916 | Human | | name |
| 151744136 | CV1473045 | single nucleotide variant | NM_001288705.3(CSF1R):c.248G>A (p.Arg83His) | not provided [RCV001912221] | uncertain significance | 5 | 150080826 | 150080826 | Human | | name |
| 151825092 | CV1478416 | single nucleotide variant | NM_001288705.3(CSF1R):c.196A>G (p.Ser66Gly) | not provided [RCV002030265] | likely benign|uncertain significance | 5 | 150080878 | 150080878 | Human | | name |
| 151792337 | CV1490121 | single nucleotide variant | NM_001288705.3(CSF1R):c.253A>T (p.Thr85Ser) | not provided [RCV001952165] | uncertain significance | 5 | 150080821 | 150080821 | Human | | name |
| 151819927 | CV1514180 | single nucleotide variant | NM_001288705.3(CSF1R):c.187G>C (p.Asp63His) | Inborn genetic diseases [RCV003355678]|not provided [RCV001934043] | benign|uncertain significance | 5 | 150080887 | 150080887 | Human | 1 | name |
| 152166705 | CV1524438 | single nucleotide variant | NM_001288705.3(CSF1R):c.1428C>T (p.Thr476=) | not provided [RCV002141980] | likely benign | 5 | 150069955 | 150069955 | Human | | name |
| 152115656 | CV1540844 | single nucleotide variant | NM_001288705.3(CSF1R):c.1617G>A (p.Lys539=) | not provided [RCV002197364] | likely benign | 5 | 150068224 | 150068224 | Human | | name |
| 152063310 | CV1542327 | single nucleotide variant | NM_001288705.3(CSF1R):c.2067C>T (p.Pro689=) | not provided [RCV002208967] | likely benign | 5 | 150059765 | 150059765 | Human | | name |
| 152144538 | CV1543144 | single nucleotide variant | NM_001288705.3(CSF1R):c.1563C>T (p.Ala521=) | not provided [RCV002178518] | likely benign | 5 | 150068278 | 150068278 | Human | | name |
| 152064029 | CV1554552 | single nucleotide variant | NM_001288705.3(CSF1R):c.2874T>C (p.Asp958=) | not provided [RCV002190894] | likely benign | 5 | 150054114 | 150054114 | Human | | name |
| 152085248 | CV1555034 | single nucleotide variant | NM_001288705.3(CSF1R):c.1317T>C (p.Asp439=) | not provided [RCV002211955] | likely benign | 5 | 150070184 | 150070184 | Human | | name |
| 152116735 | CV1569713 | single nucleotide variant | NM_001288705.3(CSF1R):c.1722G>A (p.Lys574=) | not provided [RCV002117292] | likely benign | 5 | 150061754 | 150061754 | Human | | name |
| 152053996 | CV1574190 | single nucleotide variant | NM_001288705.3(CSF1R):c.1236C>T (p.Asn412=) | not provided [RCV002189741] | likely benign | 5 | 150070265 | 150070265 | Human | | name |
| 152103233 | CV1574584 | single nucleotide variant | NM_001288705.3(CSF1R):c.1659C>T (p.Ile553=) | not provided [RCV002095803] | likely benign | 5 | 150061817 | 150061817 | Human | | name |
| 152098436 | CV1578427 | single nucleotide variant | NM_001288705.3(CSF1R):c.2436G>A (p.Lys812=) | not provided [RCV002151499] | benign | 5 | 150056225 | 150056225 | Human | | name |
| 152090371 | CV1581790 | single nucleotide variant | NM_001288705.3(CSF1R):c.1800G>A (p.Thr600=) | not provided [RCV002077626] | likely benign | 5 | 150061549 | 150061549 | Human | | name |
| 152145034 | CV1582606 | single nucleotide variant | NM_001288705.3(CSF1R):c.1119C>T (p.Pro373=) | not provided [RCV002201107] | likely benign | 5 | 150070535 | 150070535 | Human | | name |
| 152123089 | CV1587192 | single nucleotide variant | NM_001288705.3(CSF1R):c.1449C>T (p.Tyr483=) | not provided [RCV002135962] | likely benign | 5 | 150069934 | 150069934 | Human | | name |
| 152064027 | CV1587980 | single nucleotide variant | NM_001288705.3(CSF1R):c.1144C>T (p.Leu382=) | not provided [RCV002090632] | likely benign | 5 | 150070510 | 150070510 | Human | | name |
| 152132467 | CV1588010 | single nucleotide variant | NM_001288705.3(CSF1R):c.2307C>T (p.Leu769=) | not provided [RCV002199503] | likely benign | 5 | 150057299 | 150057299 | Human | | name |
| 152068892 | CV1589104 | single nucleotide variant | NM_001288705.3(CSF1R):c.2784C>T (p.Ser928=) | not provided [RCV002209720] | likely benign | 5 | 150054204 | 150054204 | Human | | name |
| 152046033 | CV1591173 | single nucleotide variant | NM_001288705.3(CSF1R):c.2529C>T (p.Ile843=) | not provided [RCV002188837] | likely benign | 5 | 150056051 | 150056051 | Human | | name |
| 152106731 | CV1591779 | single nucleotide variant | NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003339913]|not provided [RCV002214913] | benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 150080964 | 150080964 | Human | 1 | name |
| 152051254 | CV1596824 | single nucleotide variant | NM_001288705.3(CSF1R):c.1983C>T (p.Val661=) | not provided [RCV002166907] | likely benign | 5 | 150059849 | 150059849 | Human | | name |
| 152175328 | CV1602251 | single nucleotide variant | NM_001288705.3(CSF1R):c.1284C>T (p.Asn428=) | not provided [RCV002163476] | likely benign | 5 | 150070217 | 150070217 | Human | | name |
| 152150928 | CV1605513 | single nucleotide variant | NM_001288705.3(CSF1R):c.2742C>T (p.Ala914=) | not provided [RCV002102217] | likely benign | 5 | 150054343 | 150054343 | Human | | name |
| 152149125 | CV1616714 | single nucleotide variant | NM_001288705.3(CSF1R):c.1869T>C (p.His623=) | not provided [RCV002201693] | likely benign | 5 | 150060962 | 150060962 | Human | | name |
| 152070421 | CV1630400 | single nucleotide variant | NM_001288705.3(CSF1R):c.1653G>A (p.Lys551=) | not provided [RCV002129543] | likely benign | 5 | 150061823 | 150061823 | Human | | name |
| 152130764 | CV1631014 | single nucleotide variant | NM_001288705.3(CSF1R):c.1149C>T (p.Ala383=) | not provided [RCV002119058] | likely benign | 5 | 150070505 | 150070505 | Human | | name |
| 152077067 | CV1632824 | single nucleotide variant | NM_001288705.3(CSF1R):c.2316G>A (p.Lys772=) | not provided [RCV002170062] | likely benign | 5 | 150057290 | 150057290 | Human | | name |
| 152074645 | CV1635284 | single nucleotide variant | NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002498094]|not provided [RCV002092059] | benign|likely benign | 5 | 150060893 | 150060893 | Human | 1 | name , alternate_id |
| 152116536 | CV1643231 | single nucleotide variant | NM_001288705.3(CSF1R):c.1965T>C (p.His655=) | not provided [RCV002216209] | likely benign | 5 | 150060866 | 150060866 | Human | | name |
| 152104384 | CV1645437 | single nucleotide variant | NM_001288705.3(CSF1R):c.2706C>G (p.Thr902=) | not provided [RCV002133661] | likely benign | 5 | 150054379 | 150054379 | Human | | name |
| 152029356 | CV1653186 | single nucleotide variant | NM_001288705.3(CSF1R):c.1698C>T (p.Pro566=) | not provided [RCV002085776] | likely benign | 5 | 150061778 | 150061778 | Human | | name |
| 156182491 | CV1884685 | single nucleotide variant | NM_001288705.3(CSF1R):c.142G>A (p.Val48Met) | not provided [RCV003083606] | likely benign | 5 | 150080932 | 150080932 | Human | | name |
| 156416610 | CV1901571 | single nucleotide variant | NM_001288705.3(CSF1R):c.1962C>A (p.Thr654=) | not provided [RCV002610267] | likely benign | 5 | 150060869 | 150060869 | Human | | name |
| 156403722 | CV1901758 | single nucleotide variant | NM_001288705.3(CSF1R):c.2781G>A (p.Pro927=) | not provided [RCV002585271] | likely benign | 5 | 150054207 | 150054207 | Human | | name |
| 156193503 | CV1901819 | single nucleotide variant | NM_001288705.3(CSF1R):c.2475G>A (p.Glu825=) | not provided [RCV002595453] | likely benign | 5 | 150056105 | 150056105 | Human | | name |
| 156359807 | CV1904278 | single nucleotide variant | NM_001288705.3(CSF1R):c.104G>A (p.Gly35Glu) | not provided [RCV002581646] | uncertain significance | 5 | 150080970 | 150080970 | Human | | name |
| 156196253 | CV1912330 | single nucleotide variant | NM_001288705.3(CSF1R):c.1594C>T (p.Leu532=) | not provided [RCV002595545] | likely benign | 5 | 150068247 | 150068247 | Human | | name |
| 156333993 | CV1954305 | single nucleotide variant | NM_001288705.3(CSF1R):c.2112C>T (p.Leu704=) | not provided [RCV002580154] | likely benign | 5 | 150059720 | 150059720 | Human | | name |
| 156230773 | CV1959166 | single nucleotide variant | NM_001288705.3(CSF1R):c.2557C>T (p.Leu853=) | not provided [RCV002596800] | likely benign | 5 | 150055334 | 150055334 | Human | | name |
| 156205887 | CV1959279 | single nucleotide variant | NM_001288705.3(CSF1R):c.1764C>T (p.Leu588=) | not provided [RCV002574955] | likely benign | 5 | 150061585 | 150061585 | Human | | name |
| 156407275 | CV1960530 | single nucleotide variant | NM_001288705.3(CSF1R):c.1308C>A (p.Gly436=) | not provided [RCV002586179] | likely benign | 5 | 150070193 | 150070193 | Human | | name |
| 156350220 | CV1965353 | single nucleotide variant | NM_001288705.3(CSF1R):c.1896C>T (p.Ser632=) | not provided [RCV002581004] | likely benign | 5 | 150060935 | 150060935 | Human | | name |
| 156320507 | CV1968499 | single nucleotide variant | NM_001288705.3(CSF1R):c.2079C>T (p.Pro693=) | not provided [RCV002630310] | likely benign | 5 | 150059753 | 150059753 | Human | | name |
| 156341246 | CV1984913 | single nucleotide variant | NM_001288705.3(CSF1R):c.141C>A (p.Ser47Arg) | not provided [RCV002631442] | uncertain significance | 5 | 150080933 | 150080933 | Human | | name |
| 156013867 | CV1986166 | single nucleotide variant | NM_001288705.3(CSF1R):c.2244G>C (p.Arg748=) | not provided [RCV002636364] | likely benign | 5 | 150057362 | 150057362 | Human | | name |
| 156402884 | CV1992902 | single nucleotide variant | NM_001288705.3(CSF1R):c.1749G>A (p.Gln583=) | not provided [RCV002657736] | likely benign | 5 | 150061727 | 150061727 | Human | | name |
| 156239892 | CV1996322 | single nucleotide variant | NM_001288705.3(CSF1R):c.1314T>G (p.Thr438=) | not provided [RCV002667893] | likely benign | 5 | 150070187 | 150070187 | Human | | name |
| 156097724 | CV2004737 | single nucleotide variant | NM_001288705.3(CSF1R):c.1701G>T (p.Thr567=) | not provided [RCV002639462] | likely benign | 5 | 150061775 | 150061775 | Human | | name |
| 156219292 | CV2028823 | single nucleotide variant | NM_001288705.3(CSF1R):c.2865G>A (p.Glu955=) | not provided [RCV002712077] | likely benign | 5 | 150054123 | 150054123 | Human | | name |
| 156010625 | CV2039188 | single nucleotide variant | NM_001288705.3(CSF1R):c.1470C>T (p.Ser490=) | not provided [RCV002795081] | likely benign | 5 | 150069913 | 150069913 | Human | | name |
| 155937352 | CV2045054 | single nucleotide variant | NM_001288705.3(CSF1R):c.2169T>C (p.Tyr723=) | not provided [RCV002774967] | likely benign | 5 | 150057556 | 150057556 | Human | | name |
| 156247172 | CV2086261 | single nucleotide variant | NM_001288705.3(CSF1R):c.1512A>G (p.Gly504=) | not provided [RCV002876811] | likely benign | 5 | 150068329 | 150068329 | Human | | name |
| 156343309 | CV2099758 | single nucleotide variant | NM_001288705.3(CSF1R):c.2376C>G (p.Ala792=) | not provided [RCV002900602] | likely benign | 5 | 150056285 | 150056285 | Human | | name |
| 156384890 | CV2128354 | single nucleotide variant | NM_001288705.3(CSF1R):c.1948C>T (p.Leu650=) | not provided [RCV002943415] | likely benign | 5 | 150060883 | 150060883 | Human | | name |
| 156129667 | CV2151843 | single nucleotide variant | NM_001288705.3(CSF1R):c.2778G>A (p.Leu926=) | not provided [RCV003003308] | likely benign | 5 | 150054210 | 150054210 | Human | | name |
| 156351828 | CV2157598 | single nucleotide variant | NM_001288705.3(CSF1R):c.2472A>C (p.Pro824=) | not provided [RCV003030931] | likely benign | 5 | 150056108 | 150056108 | Human | | name |
| 156195753 | CV2171535 | single nucleotide variant | NM_001288705.3(CSF1R):c.272T>G (p.Leu91Arg) | not provided [RCV003024281] | likely benign | 5 | 150080802 | 150080802 | Human | | name |
| 156344448 | CV2176222 | single nucleotide variant | NM_001288705.3(CSF1R):c.289A>G (p.Ile97Val) | not provided [RCV003030479] | uncertain significance | 5 | 150080785 | 150080785 | Human | | name |
| 156254114 | CV2209617 | deletion | NM_001288705.3(CSF1R):c.554del (p.Lys185fs) | Inborn genetic diseases [RCV002702625] | pathogenic | 5 | 150080090 | 150080090 | Human | 1 | name |
| 156252268 | CV2268382 | single nucleotide variant | NM_001288705.3(CSF1R):c.122G>A (p.Arg41Gln) | Inborn genetic diseases [RCV002831198]|not provided [RCV003777828] | uncertain significance | 5 | 150080952 | 150080952 | Human | 1 | name |
| 156207459 | CV2307948 | single nucleotide variant | NM_001288705.3(CSF1R):c.223A>G (p.Thr75Ala) | Inborn genetic diseases [RCV002893544] | uncertain significance | 5 | 150080851 | 150080851 | Human | 1 | name |
| 401889562 | CV2756561 | single nucleotide variant | NM_001288705.3(CSF1R):c.258G>T (p.Glu86Asp) | Inborn genetic diseases [RCV003353912]|not provided [RCV003575080] | likely benign|uncertain significance | 5 | 150080816 | 150080816 | Human | 1 | name |
| 401918004 | CV2825395 | single nucleotide variant | NM_001288705.3(CSF1R):c.2319T>C (p.Asn773=) | not provided [RCV003429882] | likely benign | 5 | 150057287 | 150057287 | Human | | name |
| 401918006 | CV2825396 | single nucleotide variant | NM_001288705.3(CSF1R):c.2058C>T (p.Ser686=) | not provided [RCV003429883] | likely benign | 5 | 150059774 | 150059774 | Human | | name |
| 405168929 | CV2854106 | single nucleotide variant | NM_001288705.3(CSF1R):c.1185G>A (p.Glu395=) | not provided [RCV003542009] | likely benign | 5 | 150070469 | 150070469 | Human | | name |
| 405045209 | CV2859893 | single nucleotide variant | NM_001288705.3(CSF1R):c.173G>A (p.Trp58Ter) | not provided [RCV003579401] | pathogenic | 5 | 150080901 | 150080901 | Human | | name |
| 405239090 | CV2885923 | single nucleotide variant | NM_001288705.3(CSF1R):c.149G>T (p.Trp50Leu) | not provided [RCV003556976] | likely benign | 5 | 150080925 | 150080925 | Human | | name |
| 405224291 | CV2891303 | single nucleotide variant | NM_001288705.3(CSF1R):c.2736G>A (p.Glu912=) | not provided [RCV003554243] | likely benign | 5 | 150054349 | 150054349 | Human | | name |
| 405176947 | CV2915815 | single nucleotide variant | NM_001288705.3(CSF1R):c.1074C>T (p.Asp358=) | not provided [RCV003563620] | likely benign | 5 | 150073309 | 150073309 | Human | | name |
| 402507253 | CV2924212 | single nucleotide variant | NM_001288705.3(CSF1R):c.1422T>C (p.Val474=) | not provided [RCV003574583] | likely benign | 5 | 150069961 | 150069961 | Human | | name |
| 405124015 | CV2942636 | single nucleotide variant | NM_001288705.3(CSF1R):c.1935C>T (p.Asn645=) | not provided [RCV003671774] | likely benign | 5 | 150060896 | 150060896 | Human | | name |
| 405152086 | CV2949184 | single nucleotide variant | NM_001288705.3(CSF1R):c.1195C>A (p.Arg399=) | not provided [RCV003674084] | likely benign | 5 | 150070459 | 150070459 | Human | | name |
| 405148240 | CV2962759 | single nucleotide variant | NM_001288705.3(CSF1R):c.2643C>T (p.Ala881=) | not provided [RCV003673711] | likely benign | 5 | 150055248 | 150055248 | Human | | name |
| 11595381 | CV296378 | single nucleotide variant | NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000370032]|not provided [RCV002520341] | likely benign|uncertain significance | 5 | 150061760 | 150061760 | Human | 1 | name |
| 405226207 | CV2967041 | single nucleotide variant | NM_001288705.3(CSF1R):c.236C>T (p.Thr79Met) | not provided [RCV003681464] | uncertain significance | 5 | 150080838 | 150080838 | Human | | name |
| 11590256 | CV298210 | single nucleotide variant | NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000317297]|not provided [RCV002061266] | likely benign|uncertain significance | 5 | 150054192 | 150054192 | Human | 1 | name |
| 11596408 | CV298215 | single nucleotide variant | NM_001288705.3(CSF1R):c.2508C>T (p.Ser836=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000382166]|not provided [RCV002058517] | likely benign | 5 | 150056072 | 150056072 | Human | 1 | name |
| 11592467 | CV298220 | single nucleotide variant | NM_001288705.3(CSF1R):c.2166C>T (p.Thr722=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000339191]|not provided [RCV002058520] | benign|likely benign | 5 | 150057559 | 150057559 | Human | 1 | name |
| 11586298 | CV298227 | single nucleotide variant | NM_001288705.3(CSF1R):c.1404G>A (p.Val468=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000286861]|not provided [RCV002061268] | benign|likely benign | 5 | 150069979 | 150069979 | Human | 1 | name |
| 11595560 | CV298242 | single nucleotide variant | NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000371986]|not provided [RCV000889595] | benign|likely benign | 5 | 150080806 | 150080806 | Human | 1 | name |
| 11593664 | CV298245 | single nucleotide variant | NM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000351143]|not provided [RCV000890096] | benign|likely benign | 5 | 150080850 | 150080850 | Human | 1 | name |
| 402518840 | CV3002305 | single nucleotide variant | NM_001288705.3(CSF1R):c.1560C>A (p.Val520=) | not provided [RCV003690136] | likely benign | 5 | 150068281 | 150068281 | Human | | name |
| 402495901 | CV3005783 | single nucleotide variant | NM_001288705.3(CSF1R):c.2823G>A (p.Glu941=) | not provided [RCV003688008] | likely benign | 5 | 150054165 | 150054165 | Human | | name |
| 11593177 | CV302319 | single nucleotide variant | NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000346258]|not provided [RCV001513633] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 150056045 | 150056045 | Human | 1 | name |
| 11586400 | CV302321 | single nucleotide variant | NM_001288705.3(CSF1R):c.2499G>A (p.Thr833=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000287774]|not provided [RCV002058518] | benign|likely benign | 5 | 150056081 | 150056081 | Human | 1 | name |
| 11592432 | CV302326 | single nucleotide variant | NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000338738]|not provided [RCV001579847] | likely benign|uncertain significance | 5 | 150070475 | 150070475 | Human | 1 | name |
| 11594204 | CV302587 | single nucleotide variant | NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000356906]|not provided [RCV000894549] | benign|likely benign | 5 | 150054183 | 150054183 | Human | 1 | name |
| 11584652 | CV302618 | single nucleotide variant | NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000275379]|not provided [RCV000921039] | benign|likely benign | 5 | 150061775 | 150061775 | Human | 1 | name |
| 405138951 | CV3029633 | single nucleotide variant | NM_001288705.3(CSF1R):c.1371C>G (p.Val457=) | not provided [RCV003702344] | likely benign | 5 | 150070012 | 150070012 | Human | | name |
| 405220790 | CV3032218 | single nucleotide variant | NM_001288705.3(CSF1R):c.2376C>T (p.Ala792=) | not provided [RCV003709938] | likely benign | 5 | 150056285 | 150056285 | Human | | name |
| 405205398 | CV3033539 | single nucleotide variant | NM_001288705.3(CSF1R):c.1233C>T (p.Ile411=) | not provided [RCV003707850] | likely benign | 5 | 150070268 | 150070268 | Human | | name |
| 402500984 | CV3035391 | single nucleotide variant | NM_001288705.3(CSF1R):c.2199A>G (p.Ser733=) | not provided [RCV003714734] | likely benign | 5 | 150057526 | 150057526 | Human | | name |
| 405182186 | CV3057441 | single nucleotide variant | NM_001288705.3(CSF1R):c.1302C>T (p.Cys434=) | not provided [RCV003728894] | likely benign | 5 | 150070199 | 150070199 | Human | | name |
| 405186847 | CV3058846 | single nucleotide variant | NM_001288705.3(CSF1R):c.2511C>T (p.Asp837=) | not provided [RCV003729346] | likely benign | 5 | 150056069 | 150056069 | Human | | name |
| 405210722 | CV3059031 | single nucleotide variant | NM_001288705.3(CSF1R):c.2263C>T (p.Leu755=) | not provided [RCV003731967] | likely benign | 5 | 150057343 | 150057343 | Human | | name |
| 405177074 | CV3119362 | single nucleotide variant | NM_001288705.3(CSF1R):c.1440C>T (p.Asn480=) | not provided [RCV003819647] | likely benign | 5 | 150069943 | 150069943 | Human | | name |
| 405169615 | CV3122418 | single nucleotide variant | NM_001288705.3(CSF1R):c.2262C>T (p.Asp754=) | not provided [RCV003819007] | likely benign | 5 | 150057344 | 150057344 | Human | | name |
| 405159121 | CV3124916 | single nucleotide variant | NM_001288705.3(CSF1R):c.286G>A (p.Ala96Thr) | not provided [RCV003818187] | uncertain significance | 5 | 150080788 | 150080788 | Human | | name |
| 405142109 | CV3125956 | single nucleotide variant | NM_001288705.3(CSF1R):c.1572C>T (p.Ser524=) | not provided [RCV003816872] | likely benign | 5 | 150068269 | 150068269 | Human | | name |
| 405127631 | CV3132766 | single nucleotide variant | NM_001288705.3(CSF1R):c.2172G>A (p.Val724=) | not provided [RCV003837929] | benign | 5 | 150057553 | 150057553 | Human | | name |
| 405055416 | CV3138554 | single nucleotide variant | NM_001288705.3(CSF1R):c.2847G>A (p.Glu949=) | not provided [RCV003832399] | likely benign | 5 | 150054141 | 150054141 | Human | | name |
| 405020350 | CV3139138 | single nucleotide variant | NM_001288705.3(CSF1R):c.1077A>G (p.Thr359=) | not provided [RCV003829780] | likely benign|uncertain significance | 5 | 150073306 | 150073306 | Human | | name |
| 405225146 | CV3142308 | single nucleotide variant | NM_001288705.3(CSF1R):c.1680T>C (p.Ser560=) | not provided [RCV003847847] | likely benign | 5 | 150061796 | 150061796 | Human | | name |
| 405230371 | CV3180909 | single nucleotide variant | NM_001288705.3(CSF1R):c.1509A>C (p.Ala503=) | not provided [RCV003865147] | uncertain significance | 5 | 150069874 | 150069874 | Human | | name |
| 404985430 | CV3183772 | single nucleotide variant | NM_001288705.3(CSF1R):c.2887T>C (p.Leu963=) | not provided [RCV003881049] | likely benign | 5 | 150054101 | 150054101 | Human | | name |
| 405677127 | CV3235976 | single nucleotide variant | NM_001288705.3(CSF1R):c.145G>A (p.Glu49Lys) | Inborn genetic diseases [RCV004370317] | uncertain significance | 5 | 150080929 | 150080929 | Human | 1 | name |
| 405873442 | CV3398561 | single nucleotide variant | NM_001288705.3(CSF1R):c.254C>T (p.Thr85Ile) | not provided [RCV004576057] | uncertain significance | 5 | 150080820 | 150080820 | Human | | name |
| 597665043 | CV3654410 | single nucleotide variant | NM_001288705.3(CSF1R):c.229C>G (p.Gln77Glu) | Inborn genetic diseases [RCV004979247] | uncertain significance | 5 | 150080845 | 150080845 | Human | 1 | name |
| 597905211 | CV3738326 | single nucleotide variant | NM_001288705.3(CSF1R):c.1020A>T (p.Gly340=) | not provided [RCV005072748] | likely benign | 5 | 150073363 | 150073363 | Human | | name |
| 597932209 | CV3742623 | single nucleotide variant | NM_001288705.3(CSF1R):c.2190C>T (p.Ser730=) | not provided [RCV005076062] | likely benign | 5 | 150057535 | 150057535 | Human | | name |
| 597933209 | CV3742760 | single nucleotide variant | NM_001288705.3(CSF1R):c.1797C>T (p.Ala599=) | not provided [RCV005076199] | likely benign | 5 | 150061552 | 150061552 | Human | | name |
| 597881439 | CV3744841 | single nucleotide variant | NM_001288705.3(CSF1R):c.2766C>T (p.Asp922=) | not provided [RCV005069866] | likely benign | 5 | 150054222 | 150054222 | Human | | name |
| 597964777 | CV3751008 | single nucleotide variant | NM_001288705.3(CSF1R):c.172T>C (p.Trp58Arg) | not provided [RCV005082570] | uncertain significance | 5 | 150080902 | 150080902 | Human | | name |
| 597832909 | CV3760335 | single nucleotide variant | NM_001288705.3(CSF1R):c.2478C>T (p.Ser826=) | not provided [RCV005085078] | likely benign | 5 | 150056102 | 150056102 | Human | | name |
| 597964625 | CV3792220 | single nucleotide variant | NM_001288705.3(CSF1R):c.1215C>T (p.Ser405=) | not provided [RCV005139778] | likely benign | 5 | 150070286 | 150070286 | Human | | name |
| 597961073 | CV3794812 | single nucleotide variant | NM_001288705.3(CSF1R):c.2016C>T (p.Leu672=) | not provided [RCV005138717] | likely benign | 5 | 150059816 | 150059816 | Human | | name |
| 597968502 | CV3820940 | single nucleotide variant | NM_001288705.3(CSF1R):c.1248C>T (p.Thr416=) | not provided [RCV005165781] | likely benign | 5 | 150070253 | 150070253 | Human | | name |
| 597840910 | CV3825369 | single nucleotide variant | NM_001288705.3(CSF1R):c.1932G>A (p.Glu644=) | not provided [RCV005172052] | likely benign | 5 | 150060899 | 150060899 | Human | | name |
| 597971764 | CV3833048 | single nucleotide variant | NM_001288705.3(CSF1R):c.2661C>T (p.Ser887=) | not provided [RCV005166945] | likely benign | 5 | 150054424 | 150054424 | Human | | name |
| 597930856 | CV3837626 | single nucleotide variant | NM_001288705.3(CSF1R):c.1401G>A (p.Thr467=) | not provided [RCV005185786] | likely benign | 5 | 150069982 | 150069982 | Human | | name |
| 597949275 | CV3848874 | single nucleotide variant | NM_001288705.3(CSF1R):c.1989G>A (p.Thr663=) | not provided [RCV005189812] | likely benign | 5 | 150059843 | 150059843 | Human | | name |
| 597907927 | CV3853640 | single nucleotide variant | NM_001288705.3(CSF1R):c.1101T>C (p.Ser367=) | not provided [RCV005203122] | likely benign | 5 | 150070553 | 150070553 | Human | | name |
| 598260796 | CV3963144 | single nucleotide variant | NM_001288705.3(CSF1R):c.161C>G (p.Pro54Arg) | Inborn genetic diseases [RCV005325044] | uncertain significance | 5 | 150080913 | 150080913 | Human | 1 | name |
| 598260811 | CV3963147 | single nucleotide variant | NM_001288705.3(CSF1R):c.263G>A (p.Gly88Glu) | Inborn genetic diseases [RCV005325047] | uncertain significance | 5 | 150080811 | 150080811 | Human | 1 | name |
| 598260815 | CV3963148 | single nucleotide variant | NM_001288705.3(CSF1R):c.187G>T (p.Asp63Tyr) | Inborn genetic diseases [RCV005325048] | uncertain significance | 5 | 150080887 | 150080887 | Human | 1 | name |
| 13519272 | CV486381 | single nucleotide variant | NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=) | not provided [RCV000585523] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150073327 | 150073327 | Human | | name |
| 13539459 | CV501043 | single nucleotide variant | NM_001288705.3(CSF1R):c.2460G>A (p.Lys820=) | not provided [RCV002064300]|not specified [RCV000613310] | likely benign | 5 | 150056120 | 150056120 | Human | | name |
| 15184970 | CV721296 | single nucleotide variant | NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) | not provided [RCV000886570] | benign | 5 | 150054147 | 150054147 | Human | | name |
| 15110911 | CV721297 | single nucleotide variant | NM_001288705.3(CSF1R):c.2829G>A (p.Glu943=) | not provided [RCV000894164] | likely benign | 5 | 150054159 | 150054159 | Human | | name |
| 15148304 | CV734933 | single nucleotide variant | NM_001288705.3(CSF1R):c.1515C>T (p.Ala505=) | not provided [RCV000900691] | likely benign | 5 | 150068326 | 150068326 | Human | | name |
| 15167178 | CV749336 | single nucleotide variant | NM_001288705.3(CSF1R):c.2658C>T (p.Tyr886=) | not provided [RCV000927033] | likely benign | 5 | 150054427 | 150054427 | Human | | name |
| 15199542 | CV764964 | single nucleotide variant | NM_001288705.3(CSF1R):c.2664C>A (p.Ile888=) | not provided [RCV000935135] | likely benign | 5 | 150054421 | 150054421 | Human | | name |
| 15136974 | CV764965 | single nucleotide variant | NM_001288705.3(CSF1R):c.2349C>T (p.Asn783=) | not provided [RCV000943162] | likely benign | 5 | 150056312 | 150056312 | Human | | name |
| 28888309 | CV893591 | single nucleotide variant | NM_001288705.3(CSF1R):c.2136C>T (p.Asp712=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001151727] | uncertain significance | 5 | 150057589 | 150057589 | Human | 1 | name |
| 28891905 | CV893593 | single nucleotide variant | NM_001288705.3(CSF1R):c.1728G>A (p.Glu576=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001152969]|not provided [RCV003546660] | benign | 5 | 150061748 | 150061748 | Human | 1 | name |
| 28898867 | CV893594 | single nucleotide variant | NM_001288705.3(CSF1R):c.1587G>A (p.Leu529=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155612]|not provided [RCV002557329] | likely benign | 5 | 150068254 | 150068254 | Human | 1 | name |
| 28898872 | CV893595 | single nucleotide variant | NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155613]|not provided [RCV002070911] | likely benign|uncertain significance | 5 | 150068281 | 150068281 | Human | 1 | name |
| 28898878 | CV893596 | single nucleotide variant | NM_001288705.3(CSF1R):c.1518C>T (p.His506=) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155615] | uncertain significance | 5 | 150068323 | 150068323 | Human | 1 | name |
| 150428590 | CV1186887 | single nucleotide variant | NM_001288705.3(CSF1R):c.601G>C (p.Gly201Arg) | not provided [RCV001562456] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150078240 | 150078240 | Human | | name |
| 8655082 | CV125917 | duplication | NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000106403] | pathogenic | 5 | 150059771 | 150059772 | Human | 1 | name |
| 150550315 | CV1300181 | single nucleotide variant | NM_001288705.3(CSF1R):c.631G>A (p.Glu211Lys) | not provided [RCV001765651] | uncertain significance | 5 | 150078210 | 150078210 | Human | | name |
| 150537023 | CV1314456 | single nucleotide variant | NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989027] | likely pathogenic | 5 | 150077337 | 150077337 | Human | 1 | name |
| 151235548 | CV1318884 | single nucleotide variant | NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly) | Inborn genetic diseases [RCV004040850]|not provided [RCV001795700] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150078137 | 150078137 | Human | 1 | name |
| 151662445 | CV1333119 | single nucleotide variant | NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001837352] | uncertain significance | 5 | 150080234 | 150080234 | Human | 1 | name |
| 151753787 | CV1342990 | single nucleotide variant | NM_001288705.3(CSF1R):c.448C>T (p.Arg150Cys) | not provided [RCV002043555] | likely benign|uncertain significance | 5 | 150080196 | 150080196 | Human | | name |
| 151863323 | CV1353637 | single nucleotide variant | NM_001288705.3(CSF1R):c.358G>A (p.Asp120Asn) | not provided [RCV001924290] | uncertain significance | 5 | 150080286 | 150080286 | Human | | name |
| 151861961 | CV1353946 | single nucleotide variant | NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002497904]|not provided [RCV001959331] | likely benign|uncertain significance | 5 | 150078185 | 150078185 | Human | 1 | name , alternate_id |
| 151730840 | CV1355393 | single nucleotide variant | NM_001288705.3(CSF1R):c.356A>G (p.Glu119Gly) | not provided [RCV001984187] | uncertain significance | 5 | 150080288 | 150080288 | Human | | name |
| 151724454 | CV1369840 | single nucleotide variant | NM_001288705.3(CSF1R):c.807T>A (p.Asp269Glu) | not provided [RCV001945342] | likely benign|uncertain significance | 5 | 150077358 | 150077358 | Human | | name |
| 151750837 | CV1370547 | single nucleotide variant | NM_001288705.3(CSF1R):c.431G>A (p.Arg144His) | not provided [RCV001872238] | likely benign|uncertain significance | 5 | 150080213 | 150080213 | Human | | name |
| 151889746 | CV1394566 | single nucleotide variant | NM_001288705.3(CSF1R):c.871A>G (p.Met291Val) | not provided [RCV001888247] | uncertain significance | 5 | 150077294 | 150077294 | Human | | name |
| 151764689 | CV1407702 | single nucleotide variant | NM_001288705.3(CSF1R):c.344T>C (p.Val115Ala) | not provided [RCV002044660] | uncertain significance | 5 | 150080300 | 150080300 | Human | | name |
| 151809663 | CV1417258 | single nucleotide variant | NM_001288705.3(CSF1R):c.533G>A (p.Ser178Asn) | not provided [RCV002028845] | uncertain significance | 5 | 150080111 | 150080111 | Human | | name |
| 151872081 | CV1437246 | single nucleotide variant | NM_001288705.3(CSF1R):c.880C>T (p.Arg294Trp) | not provided [RCV002035805] | likely benign|uncertain significance | 5 | 150077285 | 150077285 | Human | | name |
| 151825658 | CV1447077 | single nucleotide variant | NM_001288705.3(CSF1R):c.550A>G (p.Arg184Gly) | Inborn genetic diseases [RCV004039576]|not provided [RCV001870039] | likely benign|uncertain significance | 5 | 150080094 | 150080094 | Human | 1 | name |
| 151877145 | CV1460144 | single nucleotide variant | NM_001288705.3(CSF1R):c.331C>A (p.Leu111Ile) | not provided [RCV002036395] | likely benign|uncertain significance | 5 | 150080313 | 150080313 | Human | | name |
| 151877022 | CV1461487 | single nucleotide variant | NM_001288705.3(CSF1R):c.643A>G (p.Ile215Val) | not provided [RCV001925947] | uncertain significance | 5 | 150078198 | 150078198 | Human | | name |
| 151873707 | CV1488076 | deletion | NM_001288705.3(CSF1R):c.1276del (p.Gln426fs) | not provided [RCV001981628] | pathogenic|uncertain significance | 5 | 150070225 | 150070225 | Human | | name |
| 151760899 | CV1497328 | single nucleotide variant | NM_001288705.3(CSF1R):c.946G>C (p.Gly316Arg) | not provided [RCV001987257] | uncertain significance | 5 | 150073437 | 150073437 | Human | | name |
| 151798429 | CV1503934 | single nucleotide variant | NM_001288705.3(CSF1R):c.412G>A (p.Val138Ile) | not provided [RCV001973684] | uncertain significance | 5 | 150080232 | 150080232 | Human | | name |
| 151855596 | CV1506779 | single nucleotide variant | NM_001288705.3(CSF1R):c.629C>A (p.Ala210Glu) | not provided [RCV001937909] | likely benign|uncertain significance | 5 | 150078212 | 150078212 | Human | | name |
| 151825690 | CV1507169 | single nucleotide variant | NM_001288705.3(CSF1R):c.575G>A (p.Arg192Gln) | not provided [RCV001955191] | likely benign|uncertain significance | 5 | 150080069 | 150080069 | Human | | name |
| 152142106 | CV1533080 | single nucleotide variant | NM_001288705.3(CSF1R):c.317G>A (p.Arg106Gln) | Inborn genetic diseases [RCV002552987]|not provided [RCV002156908] | likely benign|uncertain significance | 5 | 150080327 | 150080327 | Human | 1 | name |
| 152063071 | CV1587705 | single nucleotide variant | NM_001288705.3(CSF1R):c.796G>A (p.Asp266Asn) | Inborn genetic diseases [RCV003007041]|not provided [RCV002090497] | likely benign|uncertain significance | 5 | 150077369 | 150077369 | Human | 1 | name |
| 152047103 | CV1600500 | single nucleotide variant | NM_001288705.3(CSF1R):c.544G>T (p.Gly182Cys) | not provided [RCV002088675] | likely benign | 5 | 150080100 | 150080100 | Human | | name |
| 152161886 | CV1608663 | single nucleotide variant | NM_001288705.3(CSF1R):c.314C>T (p.Ala105Val) | not provided [RCV002103955] | likely benign | 5 | 150080330 | 150080330 | Human | | name |
| 152113966 | CV1659550 | single nucleotide variant | NM_001288705.3(CSF1R):c.685G>A (p.Val229Ile) | not provided [RCV002080636] | likely benign | 5 | 150078156 | 150078156 | Human | | name |
| 152981237 | CV1676706 | single nucleotide variant | NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln) | Hereditary diffuse leukoencephalopathy with spheroids [RCV002247770] | uncertain significance | 5 | 150077276 | 150077276 | Human | 1 | name |
| 9687355 | CV171845 | deletion | NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149521] | pathogenic|not provided | 5 | 150061777 | 150061777 | Human | 1 | name |
| 155748733 | CV1772264 | single nucleotide variant | NM_001288705.3(CSF1R):c.997G>C (p.Gly333Arg) | not provided [RCV002303856] | uncertain significance | 5 | 150073386 | 150073386 | Human | | name |
| 155748907 | CV1772537 | single nucleotide variant | NM_001288705.3(CSF1R):c.668T>G (p.Val223Gly) | not provided [RCV002304048] | uncertain significance | 5 | 150078173 | 150078173 | Human | | name |
| 155703571 | CV1773876 | single nucleotide variant | NM_001288705.3(CSF1R):c.919C>G (p.Gln307Glu) | not provided [RCV002295732] | uncertain significance | 5 | 150073464 | 150073464 | Human | | name |
| 156304831 | CV1868064 | single nucleotide variant | NM_001288705.3(CSF1R):c.722A>C (p.Asn241Thr) | not provided [RCV003062133] | benign | 5 | 150078119 | 150078119 | Human | | name |
| 156402907 | CV1988807 | single nucleotide variant | NM_001288705.3(CSF1R):c.599C>T (p.Pro200Leu) | not provided [RCV002605797] | uncertain significance | 5 | 150078242 | 150078242 | Human | | name |
| 156194820 | CV1994844 | single nucleotide variant | NM_001288705.3(CSF1R):c.847G>A (p.Val283Met) | not provided [RCV002643429] | uncertain significance | 5 | 150077318 | 150077318 | Human | | name |
| 156094784 | CV2004512 | single nucleotide variant | NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly) | not provided [RCV002639354] | uncertain significance | 5 | 150073409 | 150073409 | Human | | name |
| 156364489 | CV2013865 | single nucleotide variant | NM_001288705.3(CSF1R):c.785C>A (p.Thr262Asn) | not provided [RCV002721089] | uncertain significance | 5 | 150077380 | 150077380 | Human | | name |
| 155947300 | CV2077258 | single nucleotide variant | NM_001288705.3(CSF1R):c.834C>A (p.Cys278Ter) | not provided [RCV002880295] | pathogenic | 5 | 150077331 | 150077331 | Human | | name |
| 156138536 | CV2082172 | single nucleotide variant | NM_001288705.3(CSF1R):c.368C>T (p.Ala123Val) | not provided [RCV002871898] | uncertain significance | 5 | 150080276 | 150080276 | Human | | name |
| 156189802 | CV2160779 | single nucleotide variant | NM_001288705.3(CSF1R):c.958A>G (p.Asn320Asp) | not provided [RCV003024094] | uncertain significance | 5 | 150073425 | 150073425 | Human | | name |
| 156098041 | CV2163522 | single nucleotide variant | NM_001288705.3(CSF1R):c.455C>T (p.Thr152Ile) | not provided [RCV003038470] | uncertain significance | 5 | 150080189 | 150080189 | Human | | name |
| 156361851 | CV2180454 | single nucleotide variant | NM_001288705.3(CSF1R):c.700G>A (p.Asp234Asn) | not provided [RCV003049079] | uncertain significance | 5 | 150078141 | 150078141 | Human | | name |
| 155960353 | CV2183415 | single nucleotide variant | NM_001288705.3(CSF1R):c.542T>G (p.Met181Arg) | not provided [RCV003032907] | uncertain significance | 5 | 150080102 | 150080102 | Human | | name |
| 156128101 | CV2184846 | single nucleotide variant | NM_001288705.3(CSF1R):c.698T>A (p.Phe233Tyr) | not provided [RCV003039587] | uncertain significance | 5 | 150078143 | 150078143 | Human | | name |
| 156142450 | CV2189912 | single nucleotide variant | NM_001288705.3(CSF1R):c.941C>T (p.Thr314Ile) | not provided [RCV003056234] | uncertain significance | 5 | 150073442 | 150073442 | Human | | name |
| 156326413 | CV2209696 | single nucleotide variant | NM_001288705.3(CSF1R):c.436C>T (p.Arg146Trp) | Inborn genetic diseases [RCV002717465] | uncertain significance | 5 | 150080208 | 150080208 | Human | 1 | name |
| 156255560 | CV2219674 | single nucleotide variant | NM_001288705.3(CSF1R):c.668T>C (p.Val223Ala) | Inborn genetic diseases [RCV002702709]|not provided [RCV005059227] | uncertain significance | 5 | 150078173 | 150078173 | Human | 1 | name |
| 156273772 | CV2293646 | single nucleotide variant | NM_001288705.3(CSF1R):c.328G>A (p.Val110Met) | Inborn genetic diseases [RCV002896071] | uncertain significance | 5 | 150080316 | 150080316 | Human | 1 | name |
| 156003270 | CV2347769 | single nucleotide variant | NM_001288705.3(CSF1R):c.458A>G (p.Asn153Ser) | Inborn genetic diseases [RCV002997167]|not provided [RCV003778530] | uncertain significance | 5 | 150080186 | 150080186 | Human | 1 | name |
| 243051075 | CV2415686 | single nucleotide variant | NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148292] | uncertain significance | 5 | 150077425 | 150077425 | Human | 1 | name |
| 243051121 | CV2415709 | single nucleotide variant | NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148316] | uncertain significance | 5 | 150078237 | 150078237 | Human | 1 | name |
| 401760165 | CV2718738 | single nucleotide variant | NM_001288705.3(CSF1R):c.473C>T (p.Pro158Leu) | Inborn genetic diseases [RCV003299437] | uncertain significance | 5 | 150080171 | 150080171 | Human | 1 | name |
| 401732352 | CV2736701 | single nucleotide variant | NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala) | Inborn genetic diseases [RCV004333264]|not provided [RCV003313463] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 150080157 | 150080157 | Human | 1 | name |
| 401918008 | CV2825397 | single nucleotide variant | NM_001288705.3(CSF1R):c.521A>T (p.Asp174Val) | not provided [RCV003429884] | uncertain significance | 5 | 150080123 | 150080123 | Human | | name |
| 405052711 | CV2893672 | single nucleotide variant | NM_001288705.3(CSF1R):c.980C>T (p.Ala327Val) | not provided [RCV003579905] | uncertain significance | 5 | 150073403 | 150073403 | Human | | name |
| 405222390 | CV2908399 | single nucleotide variant | NM_001288705.3(CSF1R):c.326A>G (p.Asn109Ser) | not provided [RCV003568633] | uncertain significance | 5 | 150080318 | 150080318 | Human | | name |
| 405192600 | CV2928219 | duplication | NM_001288705.3(CSF1R):c.2056dup (p.Ser686fs) | not provided [RCV003564993] | pathogenic | 5 | 150059775 | 150059776 | Human | | name |
| 405145557 | CV2949899 | deletion | NM_001288705.3(CSF1R):c.1047del (p.Lys350fs) | not provided [RCV003669641] | pathogenic | 5 | 150073336 | 150073336 | Human | | name |
| 11590919 | CV296400 | single nucleotide variant | NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000323908]|not provided [RCV000966972] | benign|likely benign | 5 | 150078120 | 150078120 | Human | 1 | name |
| 11594797 | CV298234 | single nucleotide variant | NM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000363317]|not provided [RCV001850861] | benign|likely benign|uncertain significance | 5 | 150077432 | 150077432 | Human | 1 | name |
| 402483083 | CV2997989 | single nucleotide variant | NM_001288705.3(CSF1R):c.666C>G (p.Ile222Met) | not provided [RCV003686780] | likely benign | 5 | 150078175 | 150078175 | Human | | name |
| 11589132 | CV302340 | single nucleotide variant | NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000308564]|not provided [RCV000946890] | benign | 5 | 150077432 | 150077432 | Human | 1 | name |
| 11583260 | CV302628 | single nucleotide variant | NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000265552]|Inborn genetic diseases [RCV002520344]|not provided [RCV000998471] | uncertain significance | 5 | 150080126 | 150080126 | Human | 2 | name |
| 11590598 | CV302633 | single nucleotide variant | NM_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 significance | 5 | 150080328 | 150080328 | Human | 2 | name |
| 405061427 | CV3030072 | single nucleotide variant | NM_001288705.3(CSF1R):c.929T>A (p.Ile310Asn) | not provided [RCV003697714] | uncertain significance | 5 | 150073454 | 150073454 | Human | | name |
| 405077023 | CV3031723 | single nucleotide variant | NM_001288705.3(CSF1R):c.394C>G (p.Pro132Ala) | not provided [RCV003698660] | likely benign | 5 | 150080250 | 150080250 | Human | | name |
| 405002826 | CV3120686 | single nucleotide variant | NM_001288705.3(CSF1R):c.310C>T (p.Pro104Ser) | not provided [RCV003828289] | uncertain significance | 5 | 150080334 | 150080334 | Human | | name |
| 405123438 | CV3126348 | single nucleotide variant | NM_001288705.3(CSF1R):c.934G>A (p.Glu312Lys) | not provided [RCV003815100] | uncertain significance | 5 | 150073449 | 150073449 | Human | | name |
| 405197027 | CV3146692 | single nucleotide variant | NM_001288705.3(CSF1R):c.626C>T (p.Pro209Leu) | not provided [RCV003844047] | uncertain significance | 5 | 150078215 | 150078215 | Human | | name |
| 405220006 | CV3157700 | single nucleotide variant | NM_001288705.3(CSF1R):c.767G>A (p.Arg256His) | not provided [RCV003863392] | likely benign | 5 | 150077398 | 150077398 | Human | | name |
| 405221852 | CV3158129 | single nucleotide variant | NM_001288705.3(CSF1R):c.362A>G (p.Gln121Arg) | not provided [RCV003863624] | likely benign | 5 | 150080282 | 150080282 | Human | | name |
| 405244533 | CV3161491 | single nucleotide variant | NM_001288705.3(CSF1R):c.896C>T (p.Ala299Val) | Inborn genetic diseases [RCV005323610]|not provided [RCV003868203] | uncertain significance | 5 | 150073487 | 150073487 | Human | 1 | name |
| 405242926 | CV3164668 | single nucleotide variant | NM_001288705.3(CSF1R):c.535G>A (p.Ala179Thr) | not provided [RCV003867749] | uncertain significance | 5 | 150080109 | 150080109 | Human | | name |
| 405205639 | CV3165705 | deletion | NM_001288705.3(CSF1R):c.2117del (p.Lys706fs) | not provided [RCV003861371] | pathogenic | 5 | 150059715 | 150059715 | Human | | name |
| 405224075 | CV3168802 | single nucleotide variant | NM_001288705.3(CSF1R):c.670T>A (p.Cys224Ser) | not provided [RCV003864017] | uncertain significance | 5 | 150078171 | 150078171 | Human | | name |
| 405267537 | CV3186853 | single nucleotide variant | NM_001288705.3(CSF1R):c.797A>G (p.Asp266Gly) | not provided [RCV003886936] | uncertain significance | 5 | 150077368 | 150077368 | Human | | name |
| 407496510 | CV3496633 | single nucleotide variant | NM_001288705.3(CSF1R):c.979G>T (p.Ala327Ser) | not provided [RCV004696834] | uncertain significance | 5 | 150073404 | 150073404 | Human | | name |
| 408386196 | CV3528815 | single nucleotide variant | NM_001288705.3(CSF1R):c.689A>G (p.Asp230Gly) | not provided [RCV004772648] | uncertain significance | 5 | 150078152 | 150078152 | Human | | name |
| 596930291 | CV3531451 | single nucleotide variant | NM_001288705.3(CSF1R):c.846C>A (p.Asn282Lys) | not provided [RCV004780025] | uncertain significance | 5 | 150077319 | 150077319 | Human | | name |
| 12739074 | CV360868 | single nucleotide variant | NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln) | Inborn genetic diseases [RCV002521451]|Parkinsonian disorder [RCV000415068]|not provided [RCV005055952] | likely benign|uncertain significance | 5 | 150078194 | 150078194 | Human | 3 | name |
| 12836942 | CV363152 | single nucleotide variant | NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser) | Hematologic neoplasm [RCV000441113]|Neoplasm [RCV000424293] | likely pathogenic | 5 | 150073481 | 150073481 | Human | 2 | name |
| 12842501 | CV363153 | single nucleotide variant | NM_001288705.3(CSF1R):c.902T>A (p.Leu301Ter) | Neoplasm [RCV000434527] | likely pathogenic | 5 | 150073481 | 150073481 | Human | 1 | name |
| 12841675 | CV363582 | single nucleotide variant | NM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe) | Hematologic neoplasm [RCV000432996] | likely pathogenic | 5 | 150073480 | 150073480 | Human | 1 | name |
| 597665021 | CV3654407 | single nucleotide variant | NM_001288705.3(CSF1R):c.659C>T (p.Ala220Val) | Inborn genetic diseases [RCV004979244]|not provided [RCV005061688] | likely benign|uncertain significance | 5 | 150078182 | 150078182 | Human | 1 | name |
| 597665027 | CV3654408 | single nucleotide variant | NM_001288705.3(CSF1R):c.357G>C (p.Glu119Asp) | Inborn genetic diseases [RCV004979245] | uncertain significance | 5 | 150080287 | 150080287 | Human | 1 | name |
| 597718308 | CV3725052 | single nucleotide variant | NM_001288705.3(CSF1R):c.719A>G (p.Asn240Ser) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005035391] | uncertain significance | 5 | 150078122 | 150078122 | Human | 1 | name , alternate_id |
| 597960387 | CV3756195 | single nucleotide variant | NM_001288705.3(CSF1R):c.425G>A (p.Arg142His) | not provided [RCV005081512] | uncertain significance | 5 | 150080219 | 150080219 | Human | | name |
| 597851340 | CV3761887 | single nucleotide variant | NM_001288705.3(CSF1R):c.649G>A (p.Gly217Arg) | not provided [RCV005087984] | uncertain significance | 5 | 150078192 | 150078192 | Human | | name |
| 597913613 | CV3771008 | single nucleotide variant | NM_001288705.3(CSF1R):c.829T>G (p.Ser277Ala) | not provided [RCV005114127] | uncertain significance | 5 | 150077336 | 150077336 | Human | | name |
| 597913624 | CV3771009 | single nucleotide variant | NM_001288705.3(CSF1R):c.805G>T (p.Asp269Tyr) | not provided [RCV005114128] | uncertain significance | 5 | 150077360 | 150077360 | Human | | name |
| 597913634 | CV3771010 | single nucleotide variant | NM_001288705.3(CSF1R):c.792C>A (p.Asn264Lys) | not provided [RCV005114129] | uncertain significance | 5 | 150077373 | 150077373 | Human | | name |
| 597972263 | CV3829544 | single nucleotide variant | NM_001288705.3(CSF1R):c.967G>A (p.Val323Ile) | not provided [RCV005167331] | uncertain significance | 5 | 150073416 | 150073416 | Human | | name |
| 598218613 | CV3895528 | single nucleotide variant | NM_001288705.3(CSF1R):c.931C>T (p.Gln311Ter) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005360387] | likely pathogenic | 5 | 150073452 | 150073452 | Human | 1 | name , alternate_id |
| 598260794 | CV3963143 | single nucleotide variant | NM_001288705.3(CSF1R):c.567C>G (p.Ile189Met) | Inborn genetic diseases [RCV005325043] | uncertain significance | 5 | 150080077 | 150080077 | Human | 1 | name |
| 13472589 | CV443721 | single nucleotide variant | NM_001288705.3(CSF1R):c.592G>T (p.Val198Phe) | not provided [RCV000519164] | uncertain significance | 5 | 150080052 | 150080052 | Human | | name |
| 13518544 | CV486382 | single nucleotide variant | NM_001288705.3(CSF1R):c.449G>A (p.Arg150His) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001153080]|not provided [RCV000584893] | uncertain significance | 5 | 150080195 | 150080195 | Human | 1 | name |
| 14696642 | CV622954 | single nucleotide variant | NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785984]|not provided [RCV003727825] | pathogenic|uncertain significance | 5 | 150080249 | 150080249 | Human | 1 | name |
| 15110873 | CV749340 | single nucleotide variant | NM_001288705.3(CSF1R):c.457A>C (p.Asn153His) | not provided [RCV000916622] | benign | 5 | 150080187 | 150080187 | Human | | name |
| 28877122 | CV859404 | single nucleotide variant | NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr) | not provided [RCV001090378] | uncertain significance | 5 | 150078183 | 150078183 | Human | | name |
| 28888650 | CV893599 | single nucleotide variant | NM_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 significance | 5 | 150073440 | 150073440 | Human | 2 | name |
| 28892190 | CV893601 | single nucleotide variant | NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001153078] | likely benign | 5 | 150078121 | 150078121 | Human | 1 | name |
| 28892194 | CV893602 | single nucleotide variant | NM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001153079] | likely benign | 5 | 150078200 | 150078200 | Human | 1 | name |
| 28892202 | CV893604 | single nucleotide variant | NM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001153082] | uncertain significance | 5 | 150080307 | 150080307 | Human | 1 | name |
| 28899106 | CV893605 | single nucleotide variant | NM_001288705.3(CSF1R):c.299A>G (p.Tyr100Cys) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001155700] | uncertain significance | 5 | 150080775 | 150080775 | Human | 1 | name |
| 38460085 | CV918932 | single nucleotide variant | NM_001288705.3(CSF1R):c.349G>A (p.Val117Met) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196349]|not provided [RCV003480985] | uncertain significance | 5 | 150080295 | 150080295 | Human | 1 | name |
| 38464843 | CV961510 | single nucleotide variant | NM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001249778]|not provided [RCV001751515] | uncertain significance | 5 | 150080147 | 150080147 | Human | 1 | name |
| 126725402 | CV1016520 | single nucleotide variant | NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003333152] | likely pathogenic | 5 | 150056077 | 150056077 | Human | 1 | name , alternate_id |
| 126725400 | CV1016521 | single nucleotide variant | NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001331371] | pathogenic | 5 | 150068221 | 150068221 | Human | 1 | name |
| 126730217 | CV1020056 | single nucleotide variant | NM_001288705.3(CSF1R):c.2613T>G (p.Asp871Glu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001333368]|not provided [RCV003770849] | uncertain significance | 5 | 150055278 | 150055278 | Human | 1 | name |
| 126917607 | CV1043447 | single nucleotide variant | NM_001288705.3(CSF1R):c.1930G>A (p.Glu644Lys) | not provided [RCV001372166] | likely benign|uncertain significance | 5 | 150060901 | 150060901 | Human | | name |
| 126924817 | CV1043448 | single nucleotide variant | NM_001288705.3(CSF1R):c.1700C>T (p.Thr567Met) | not provided [RCV001367470] | uncertain significance | 5 | 150061776 | 150061776 | Human | | name |
| 8591097 | CV125919 | single nucleotide variant | NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000106405] | pathogenic | 5 | 150056319 | 150056319 | Human | 1 | name |
| 150529648 | CV1289205 | single nucleotide variant | NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001728045]|not provided [RCV002539778] | likely pathogenic|uncertain significance | 5 | 150055328 | 150055328 | Human | 1 | name |
| 150533368 | CV1294188 | single nucleotide variant | NM_001288705.3(CSF1R):c.2677T>C (p.Trp893Arg) | not provided [RCV001758206] | uncertain significance | 5 | 150054408 | 150054408 | Human | | name |
| 150551987 | CV1296354 | single nucleotide variant | NM_001288705.3(CSF1R):c.2485G>C (p.Asp829His) | not provided [RCV001767365] | uncertain significance | 5 | 150056095 | 150056095 | Human | | name |
| 150555427 | CV1297892 | single nucleotide variant | NM_001288705.3(CSF1R):c.2567A>C (p.Tyr856Ser) | not provided [RCV001772800] | uncertain significance | 5 | 150055324 | 150055324 | Human | | name |
| 150555601 | CV1304751 | single nucleotide variant | NM_001288705.3(CSF1R):c.2912T>A (p.Phe971Tyr) | not provided [RCV001772999] | uncertain significance | 5 | 150054076 | 150054076 | Human | | name |
| 150536605 | CV1312479 | single nucleotide variant | NM_001288705.3(CSF1R):c.2026C>T (p.Arg676Ter) | not provided [RCV001780583] | pathogenic | 5 | 150059806 | 150059806 | Human | | name |
| 151348553 | CV1324089 | single nucleotide variant | NM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001808002] | uncertain significance | 5 | 150060933 | 150060933 | Human | 1 | name |
| 151348617 | CV1324125 | single nucleotide variant | NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001808039] | likely pathogenic | 5 | 150073314 | 150073314 | Human | 1 | name |
| 151661376 | CV1329837 | single nucleotide variant | NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001823037] | likely pathogenic | 5 | 150056113 | 150056113 | Human | 1 | name |
| 151661400 | CV1330152 | single nucleotide variant | NM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001823563] | uncertain significance | 5 | 150055321 | 150055321 | Human | 1 | name |
| 151777209 | CV1336958 | single nucleotide variant | NM_001288705.3(CSF1R):c.2539G>C (p.Glu847Gln) | not provided [RCV002025919] | likely pathogenic | 5 | 150056041 | 150056041 | Human | | name |
| 151806323 | CV1340213 | single nucleotide variant | NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002272513]|not provided [RCV001867588] | uncertain significance | 5 | 150057546 | 150057546 | Human | 1 | name , alternate_id |
| 151747320 | CV1345212 | single nucleotide variant | NM_001288705.3(CSF1R):c.1541T>A (p.Leu514His) | not provided [RCV001893936] | uncertain significance | 5 | 150068300 | 150068300 | Human | | name |
| 151810937 | CV1345219 | single nucleotide variant | NM_001288705.3(CSF1R):c.2188T>C (p.Ser730Pro) | Inborn genetic diseases [RCV005320904]|not provided [RCV001878263] | uncertain significance | 5 | 150057537 | 150057537 | Human | 1 | name |
| 151798045 | CV1352686 | single nucleotide variant | NM_001288705.3(CSF1R):c.2392G>C (p.Gly798Arg) | not provided [RCV001877122] | likely pathogenic|uncertain significance | 5 | 150056269 | 150056269 | Human | | name |
| 151744541 | CV1368202 | single nucleotide variant | NM_001288705.3(CSF1R):c.1561G>A (p.Ala521Thr) | not provided [RCV001871364] | uncertain significance | 5 | 150068280 | 150068280 | Human | | name |
| 151832675 | CV1370413 | single nucleotide variant | NM_001288705.3(CSF1R):c.1330G>A (p.Ala444Thr) | not provided [RCV001993867] | uncertain significance | 5 | 150070053 | 150070053 | Human | | name |
| 151818174 | CV1385699 | single nucleotide variant | NM_001288705.3(CSF1R):c.1662G>T (p.Glu554Asp) | not provided [RCV002013109] | uncertain significance | 5 | 150061814 | 150061814 | Human | | name |
| 151874378 | CV1388157 | single nucleotide variant | NM_001288705.3(CSF1R):c.2092G>A (p.Asp698Asn) | not provided [RCV001981710] | likely benign|uncertain significance | 5 | 150059740 | 150059740 | Human | | name |
| 151794175 | CV1394905 | single nucleotide variant | NM_001288705.3(CSF1R):c.2843G>C (p.Ser948Thr) | not provided [RCV001973328] | uncertain significance | 5 | 150054145 | 150054145 | Human | | name |
| 151891897 | CV1403081 | single nucleotide variant | NM_001288705.3(CSF1R):c.1555G>C (p.Val519Leu) | not provided [RCV001943545] | benign|uncertain significance | 5 | 150068286 | 150068286 | Human | | name |
| 151765317 | CV1403272 | single nucleotide variant | NM_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 significance | 5 | 150059759 | 150059759 | Human | 2 | name , alternate_id |
| 151728990 | CV1410072 | single nucleotide variant | NM_001288705.3(CSF1R):c.1729T>A (p.Phe577Ile) | not provided [RCV001910670] | uncertain significance | 5 | 150061747 | 150061747 | Human | | name |
| 151823565 | CV1412223 | single nucleotide variant | NM_001288705.3(CSF1R):c.2137A>G (p.Ser713Gly) | not provided [RCV001901122] | uncertain significance | 5 | 150057588 | 150057588 | Human | | name |
| 151795819 | CV1415611 | single nucleotide variant | NM_001288705.3(CSF1R):c.1399A>G (p.Thr467Ala) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555627]|not provided [RCV001898608] | uncertain significance | 5 | 150069984 | 150069984 | Human | 1 | name , alternate_id |
| 151811862 | CV1417520 | single nucleotide variant | NM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser) | Inborn genetic diseases [RCV002642187]|not provided [RCV002029046] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 150070218 | 150070218 | Human | 1 | name |
| 151793697 | CV1423127 | single nucleotide variant | NM_001288705.3(CSF1R):c.1126G>A (p.Ala376Thr) | not provided [RCV001917064] | uncertain significance | 5 | 150070528 | 150070528 | Human | | name |
| 151783648 | CV1435122 | single nucleotide variant | NM_001288705.3(CSF1R):c.2866C>T (p.Gln956Ter) | not provided [RCV001916107] | uncertain significance | 5 | 150054122 | 150054122 | Human | | name |
| 151818369 | CV1446096 | single nucleotide variant | NM_001288705.3(CSF1R):c.2615G>T (p.Gly872Val) | not provided [RCV001975485] | uncertain significance | 5 | 150055276 | 150055276 | Human | | name |
| 151867219 | CV1446543 | single nucleotide variant | NM_001288705.3(CSF1R):c.2627C>A (p.Ala876Asp) | not provided [RCV001980860] | uncertain significance | 5 | 150055264 | 150055264 | Human | | name |
| 151725122 | CV1452199 | single nucleotide variant | NM_001288705.3(CSF1R):c.1795G>C (p.Ala599Pro) | not provided [RCV002040583] | uncertain significance | 5 | 150061554 | 150061554 | Human | | name |
| 151825381 | CV1452900 | single nucleotide variant | NM_001288705.3(CSF1R):c.1284C>A (p.Asn428Lys) | not provided [RCV002050206] | uncertain significance | 5 | 150070217 | 150070217 | Human | | name |
| 151876505 | CV1458669 | single nucleotide variant | NM_001288705.3(CSF1R):c.1876G>T (p.Glu626Ter) | not provided [RCV001999002] | pathogenic|uncertain significance | 5 | 150060955 | 150060955 | Human | | name |
| 151851469 | CV1465170 | single nucleotide variant | NM_001288705.3(CSF1R):c.1645C>T (p.Arg549Cys) | Inborn genetic diseases [RCV002579587]|not provided [RCV001996016] | uncertain significance | 5 | 150061831 | 150061831 | Human | 1 | name |
| 151763845 | CV1467987 | single nucleotide variant | NM_001288705.3(CSF1R):c.2539G>A (p.Glu847Lys) | not provided [RCV001949461] | pathogenic | 5 | 150056041 | 150056041 | Human | | name |
| 151887064 | CV1478126 | single nucleotide variant | NM_001288705.3(CSF1R):c.1084C>T (p.His362Tyr) | not provided [RCV002038107] | uncertain significance | 5 | 150070570 | 150070570 | Human | | name |
| 151814509 | CV1485474 | single nucleotide variant | NM_001288705.3(CSF1R):c.2533C>T (p.Leu845Phe) | not provided [RCV002029295] | uncertain significance | 5 | 150056047 | 150056047 | Human | | name |
| 151859115 | CV1486543 | single nucleotide variant | NM_001288705.3(CSF1R):c.2174A>G (p.Glu725Gly) | not provided [RCV001883700] | uncertain significance | 5 | 150057551 | 150057551 | Human | | name |
| 151875677 | CV1486997 | single nucleotide variant | NM_001288705.3(CSF1R):c.2363A>G (p.Asn788Ser) | not provided [RCV001907030] | uncertain significance | 5 | 150056298 | 150056298 | Human | | name |
| 151715138 | CV1492944 | single nucleotide variant | NM_001288705.3(CSF1R):c.1859C>T (p.Ser620Phe) | not provided [RCV001890181] | uncertain significance | 5 | 150060972 | 150060972 | Human | | name |
| 151720635 | CV1494519 | single nucleotide variant | NM_001288705.3(CSF1R):c.1488G>T (p.Trp496Cys) | not provided [RCV001965920] | uncertain significance | 5 | 150069895 | 150069895 | Human | | name |
| 151726940 | CV1498927 | single nucleotide variant | NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002468654]|not provided [RCV002040804] | likely pathogenic|uncertain significance | 5 | 150060870 | 150060870 | Human | 1 | name , alternate_id |
| 151845647 | CV1501646 | single nucleotide variant | NM_001288705.3(CSF1R):c.1484C>T (p.Ser495Phe) | not provided [RCV002015870] | uncertain significance | 5 | 150069899 | 150069899 | Human | | name |
| 151773026 | CV1502184 | single nucleotide variant | NM_001288705.3(CSF1R):c.1865C>T (p.Ala622Val) | not provided [RCV001929716] | uncertain significance | 5 | 150060966 | 150060966 | Human | | name |
| 151817458 | CV1505611 | single nucleotide variant | NM_001288705.3(CSF1R):c.2180G>A (p.Arg727Lys) | not provided [RCV002049458] | uncertain significance | 5 | 150057545 | 150057545 | Human | | name |
| 151879588 | CV1506308 | single nucleotide variant | NM_001288705.3(CSF1R):c.1480G>A (p.Gly494Ser) | not provided [RCV001886280] | likely benign|uncertain significance | 5 | 150069903 | 150069903 | Human | | name |
| 151786919 | CV1513697 | single nucleotide variant | NM_001288705.3(CSF1R):c.1749G>T (p.Gln583His) | not provided [RCV001916420] | uncertain significance | 5 | 150061727 | 150061727 | Human | | name |
| 152138719 | CV1572322 | single nucleotide variant | NM_001288705.3(CSF1R):c.2855C>T (p.Thr952Ile) | not provided [RCV002219085] | likely benign | 5 | 150054133 | 150054133 | Human | | name |
| 152097187 | CV1628028 | single nucleotide variant | NM_001288705.3(CSF1R):c.2806G>A (p.Gly936Ser) | not provided [RCV002195077] | benign | 5 | 150054182 | 150054182 | Human | | name |
| 152101138 | CV1648979 | single nucleotide variant | NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) | not provided [RCV002214022] | likely benign|conflicting interpretations of pathogenicity | 5 | 150060946 | 150060946 | Human | | name |
| 152028974 | CV1655487 | single nucleotide variant | NM_001288705.3(CSF1R):c.1400C>T (p.Thr467Met) | not provided [RCV002105424] | likely benign | 5 | 150069983 | 150069983 | Human | | name |
| 152040770 | CV1669772 | single nucleotide variant | NM_001288705.3(CSF1R):c.1754G>T (p.Gly585Val) | not provided [RCV002224673] | uncertain significance | 5 | 150061595 | 150061595 | Human | | name |
| 152042626 | CV1670026 | single nucleotide variant | NM_001288705.3(CSF1R):c.1564T>G (p.Cys522Gly) | not provided [RCV002224928] | uncertain significance | 5 | 150068277 | 150068277 | Human | | name |
| 152982828 | CV1677690 | single nucleotide variant | NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) | Hereditary diffuse leukoencephalopathy with spheroids [RCV002249843] | pathogenic | 5 | 150056082 | 150056082 | Human | 1 | name |
| 155642641 | CV1707526 | single nucleotide variant | NM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002288456] | pathogenic | 5 | 150057504 | 150057504 | Human | | name , alternate_id |
| 9687370 | CV171824 | single nucleotide variant | NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149536]|not provided [RCV001850027] | pathogenic|uncertain significance|not provided | 5 | 150054368 | 150054368 | Human | 1 | name |
| 9687362 | CV171825 | single nucleotide variant | NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149528] | pathogenic|not provided | 5 | 150054384 | 150054384 | Human | 1 | name |
| 9687366 | CV171827 | single nucleotide variant | NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149532]|not provided [RCV000585150] | pathogenic|likely pathogenic | 5 | 150055262 | 150055262 | Human | 1 | name |
| 9687361 | CV171828 | single nucleotide variant | NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149527] | pathogenic|not provided | 5 | 150055325 | 150055325 | Human | 1 | name |
| 9687375 | CV171829 | single nucleotide variant | NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149541]|not provided [RCV001171967] | pathogenic|uncertain significance|not provided | 5 | 150055329 | 150055329 | Human | 1 | name |
| 9687360 | CV171830 | single nucleotide variant | NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149526]|not provided [RCV005089720] | pathogenic|likely pathogenic|uncertain significance | 5 | 150056039 | 150056039 | Human | 1 | name |
| 9687365 | CV171831 | single nucleotide variant | NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149531] | pathogenic|not provided | 5 | 150056052 | 150056052 | Human | 1 | name |
| 9687368 | CV171832 | single nucleotide variant | NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149534] | pathogenic|not provided | 5 | 150056053 | 150056053 | Human | 1 | name |
| 9687367 | CV171833 | single nucleotide variant | NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149533] | pathogenic|not provided | 5 | 150056068 | 150056068 | Human | 1 | name |
| 9687359 | CV171834 | single nucleotide variant | NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149525] | pathogenic|not provided | 5 | 150056100 | 150056100 | Human | 1 | name |
| 9687358 | CV171836 | single nucleotide variant | NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149524] | pathogenic|not provided | 5 | 150056130 | 150056130 | Human | 1 | name |
| 9687371 | CV171837 | single nucleotide variant | NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149537] | pathogenic|not provided | 5 | 150056283 | 150056283 | Human | 1 | name |
| 9687374 | CV171838 | single nucleotide variant | NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989326]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000149540] | pathogenic|likely pathogenic|not provided | 5 | 150056311 | 150056311 | Human | 2 | name |
| 9687364 | CV171839 | single nucleotide variant | NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149530]|not provided [RCV001850026] | pathogenic | 5 | 150056319 | 150056319 | Human | 1 | name |
| 9687376 | CV171841 | single nucleotide variant | NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149542] | pathogenic|not provided | 5 | 150057312 | 150057312 | Human | 1 | name |
| 9687369 | CV171842 | single nucleotide variant | NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149535]|not provided [RCV001753529] | pathogenic|uncertain significance|not provided | 5 | 150060874 | 150060874 | Human | 1 | name |
| 9687356 | CV171843 | single nucleotide variant | NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149522] | pathogenic|not provided | 5 | 150060942 | 150060942 | Human | 1 | name |
| 9687373 | CV171844 | single nucleotide variant | NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000149539]|not provided [RCV003556199] | pathogenic|uncertain significance|not provided | 5 | 150061731 | 150061731 | Human | 1 | name |
| 155746438 | CV1771640 | single nucleotide variant | NM_001288705.3(CSF1R):c.1033C>T (p.His345Tyr) | not provided [RCV002303421] | uncertain significance | 5 | 150073350 | 150073350 | Human | | name |
| 155677079 | CV1771833 | single nucleotide variant | NM_001288705.3(CSF1R):c.1520C>A (p.Thr507Lys) | not provided [RCV002297854] | uncertain significance | 5 | 150068321 | 150068321 | Human | | name |
| 155671989 | CV1773962 | single nucleotide variant | NM_001288705.3(CSF1R):c.2545T>G (p.Phe849Val) | not provided [RCV002297533] | uncertain significance | 5 | 150056035 | 150056035 | Human | | name |
| 155734329 | CV1774390 | single nucleotide variant | NM_001288705.3(CSF1R):c.1970G>A (p.Gly657Asp) | not provided [RCV002301846] | uncertain significance | 5 | 150059862 | 150059862 | Human | | name |
| 155701236 | CV1776162 | single nucleotide variant | NM_001288705.3(CSF1R):c.1037A>G (p.Gln346Arg) | not provided [RCV002299983] | uncertain significance | 5 | 150073346 | 150073346 | Human | | name |
| 156237609 | CV1882220 | single nucleotide variant | NM_001288705.3(CSF1R):c.1196G>A (p.Arg399Gln) | not provided [RCV003085623] | uncertain significance | 5 | 150070458 | 150070458 | Human | | name |
| 155965925 | CV1892083 | single nucleotide variant | NM_001288705.3(CSF1R):c.1693G>A (p.Asp565Asn) | not provided [RCV003074931] | uncertain significance | 5 | 150061783 | 150061783 | Human | | name |
| 156089709 | CV1919684 | single nucleotide variant | NM_001288705.3(CSF1R):c.1528C>G (p.Pro510Ala) | not provided [RCV002591868] | benign | 5 | 150068313 | 150068313 | Human | | name |
| 156035656 | CV1932709 | single nucleotide variant | NM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter) | not provided [RCV002637360] | pathogenic|uncertain significance | 5 | 150060907 | 150060907 | Human | | name |
| 156435773 | CV1937135 | single nucleotide variant | NM_001288705.3(CSF1R):c.2797G>A (p.Gly933Ser) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005036655]|not provided [RCV003105004] | likely benign|uncertain significance | 5 | 150054191 | 150054191 | Human | 1 | name , alternate_id |
| 156441850 | CV1941504 | single nucleotide variant | NM_001288705.3(CSF1R):c.2522A>G (p.Tyr841Cys) | not provided [RCV003112183] | uncertain significance | 5 | 150056058 | 150056058 | Human | | name |
| 156437474 | CV1947481 | single nucleotide variant | NM_001288705.3(CSF1R):c.2242C>T (p.Arg748Trp) | not provided [RCV003107012] | likely benign | 5 | 150057364 | 150057364 | Human | | name |
| 156437525 | CV1947530 | single nucleotide variant | NM_001288705.3(CSF1R):c.2863G>A (p.Glu955Lys) | not provided [RCV003107064] | likely benign | 5 | 150054125 | 150054125 | Human | | name |
| 156446710 | CV1948065 | single nucleotide variant | NM_001288705.3(CSF1R):c.2858G>A (p.Cys953Tyr) | not provided [RCV003118224] | likely benign|uncertain significance | 5 | 150054130 | 150054130 | Human | | name |
| 156106675 | CV1953756 | single nucleotide variant | NM_001288705.3(CSF1R):c.1479T>G (p.Ser493Arg) | not provided [RCV002571044] | likely benign | 5 | 150069904 | 150069904 | Human | | name |
| 156410469 | CV1958394 | single nucleotide variant | NM_001288705.3(CSF1R):c.2792G>A (p.Arg931Lys) | not provided [RCV002587163] | uncertain significance | 5 | 150054196 | 150054196 | Human | | name |
| 156250153 | CV1969712 | single nucleotide variant | NM_001288705.3(CSF1R):c.1862C>T (p.Thr621Met) | not provided [RCV002597443] | benign | 5 | 150060969 | 150060969 | Human | | name |
| 156419673 | CV1974023 | single nucleotide variant | NM_001288705.3(CSF1R):c.2803A>G (p.Ser935Gly) | not provided [RCV002612912] | uncertain significance | 5 | 150054185 | 150054185 | Human | | name |
| 156350351 | CV1985547 | single nucleotide variant | NM_001288705.3(CSF1R):c.1326T>A (p.Asp442Glu) | not provided [RCV002631935] | likely benign | 5 | 150070057 | 150070057 | Human | | name |
| 156246986 | CV1988153 | single nucleotide variant | NM_001288705.3(CSF1R):c.2195C>T (p.Ser732Phe) | not provided [RCV002645770] | uncertain significance | 5 | 150057530 | 150057530 | Human | | name |
| 156402892 | CV1988782 | single nucleotide variant | NM_001288705.3(CSF1R):c.2500G>A (p.Val834Ile) | not provided [RCV002605794] | likely benign | 5 | 150056080 | 150056080 | Human | | name |
| 156324234 | CV1988802 | single nucleotide variant | NM_001288705.3(CSF1R):c.1109G>A (p.Arg370His) | not provided [RCV002649450] | uncertain significance | 5 | 150070545 | 150070545 | Human | | name |
| 156125728 | CV1995390 | single nucleotide variant | NM_001288705.3(CSF1R):c.2446C>T (p.Arg816Cys) | not provided [RCV002663028] | uncertain significance | 5 | 150056134 | 150056134 | Human | | name |
| 156175125 | CV2000311 | single nucleotide variant | NM_001288705.3(CSF1R):c.2215G>A (p.Glu739Lys) | not provided [RCV002642846] | uncertain significance | 5 | 150057510 | 150057510 | Human | | name |
| 156371409 | CV2007790 | single nucleotide variant | NM_001288705.3(CSF1R):c.2756G>C (p.Arg919Thr) | not provided [RCV002676932] | likely benign | 5 | 150054329 | 150054329 | Human | | name |
| 156087693 | CV2008835 | single nucleotide variant | NM_001288705.3(CSF1R):c.1190C>T (p.Thr397Ile) | not provided [RCV002706201] | uncertain significance | 5 | 150070464 | 150070464 | Human | | name |
| 156285667 | CV2012761 | single nucleotide variant | NM_001288705.3(CSF1R):c.2203G>A (p.Asp735Asn) | not provided [RCV002715451] | uncertain significance | 5 | 150057522 | 150057522 | Human | | name |
| 156014135 | CV2013348 | single nucleotide variant | NM_001288705.3(CSF1R):c.2692A>G (p.Thr898Ala) | not provided [RCV002735051] | uncertain significance | 5 | 150054393 | 150054393 | Human | | name |
| 156071076 | CV2018550 | single nucleotide variant | NM_001288705.3(CSF1R):c.2512G>A (p.Val838Ile) | not provided [RCV002705686] | uncertain significance | 5 | 150056068 | 150056068 | Human | | name |
| 155920310 | CV2032113 | single nucleotide variant | NM_001288705.3(CSF1R):c.1981G>A (p.Val661Ile) | not provided [RCV002727353] | likely benign | 5 | 150059851 | 150059851 | Human | | name |
| 155911187 | CV2037623 | single nucleotide variant | NM_001288705.3(CSF1R):c.1883A>C (p.Glu628Ala) | Inborn genetic diseases [RCV004973648]|not provided [RCV002771597] | uncertain significance | 5 | 150060948 | 150060948 | Human | 1 | name |
| 155941496 | CV2038277 | single nucleotide variant | NM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu) | Inborn genetic diseases [RCV002775223]|not provided [RCV002742015] | likely benign|uncertain significance | 5 | 150054208 | 150054208 | Human | 1 | name |
| 156292161 | CV2047282 | single nucleotide variant | NM_001288705.3(CSF1R):c.2758G>A (p.Glu920Lys) | not provided [RCV002770817] | benign | 5 | 150054327 | 150054327 | Human | | name |
| 156060803 | CV2061073 | single nucleotide variant | NM_001288705.3(CSF1R):c.2119A>G (p.Lys707Glu) | not provided [RCV002797093] | uncertain significance | 5 | 150059713 | 150059713 | Human | | name |
| 156261262 | CV2113738 | single nucleotide variant | NM_001288705.3(CSF1R):c.2239G>C (p.Gly747Arg) | not provided [RCV002933889] | benign | 5 | 150057367 | 150057367 | Human | | name |
| 156237581 | CV2115600 | single nucleotide variant | NM_001288705.3(CSF1R):c.1529C>T (p.Pro510Leu) | not provided [RCV002919176] | likely benign | 5 | 150068312 | 150068312 | Human | | name |
| 156139960 | CV2116639 | single nucleotide variant | NM_001288705.3(CSF1R):c.1466A>G (p.Asn489Ser) | not provided [RCV002914870] | uncertain significance | 5 | 150069917 | 150069917 | Human | | name |
| 155940681 | CV2142911 | single nucleotide variant | NM_001288705.3(CSF1R):c.2614G>A (p.Gly872Arg) | not provided [RCV002994032] | uncertain significance | 5 | 150055277 | 150055277 | Human | | name |
| 156314137 | CV2143939 | single nucleotide variant | NM_001288705.3(CSF1R):c.1222T>C (p.Trp408Arg) | not provided [RCV003011285] | uncertain significance | 5 | 150070279 | 150070279 | Human | | name |
| 156124487 | CV2144616 | single nucleotide variant | NM_001288705.3(CSF1R):c.1975G>A (p.Val659Ile) | not provided [RCV003003114] | uncertain significance | 5 | 150059857 | 150059857 | Human | | name |
| 156353854 | CV2154019 | single nucleotide variant | NM_001288705.3(CSF1R):c.2734G>A (p.Glu912Lys) | not provided [RCV003031079] | uncertain significance | 5 | 150054351 | 150054351 | Human | | name |
| 156351714 | CV2157586 | microsatellite | NM_001288705.3(CSF1R):c.25CTG[1] (p.Leu10del) | not provided [RCV003030923] | uncertain significance | 5 | 150086398 | 150086400 | Human | | name |
| 156329447 | CV2180850 | single nucleotide variant | NM_001288705.3(CSF1R):c.1792G>A (p.Glu598Lys) | not provided [RCV003047124] | uncertain significance | 5 | 150061557 | 150061557 | Human | | name |
| 156320930 | CV2182655 | single nucleotide variant | NM_001288705.3(CSF1R):c.2245C>T (p.Pro749Ser) | not provided [RCV003046599] | uncertain significance | 5 | 150057361 | 150057361 | Human | | name |
| 156357633 | CV2187222 | single nucleotide variant | NM_001288705.3(CSF1R):c.2508C>A (p.Ser836Arg) | not provided [RCV003048800] | uncertain significance | 5 | 150056072 | 150056072 | Human | | name |
| 156259479 | CV2216226 | single nucleotide variant | NM_001288705.3(CSF1R):c.1567A>C (p.Met523Leu) | Inborn genetic diseases [RCV002702935] | uncertain significance | 5 | 150068274 | 150068274 | Human | 1 | name |
| 156389601 | CV2226438 | single nucleotide variant | NM_001288705.3(CSF1R):c.1043A>G (p.Glu348Gly) | Inborn genetic diseases [RCV002724386] | uncertain significance | 5 | 150073340 | 150073340 | Human | 1 | name |
| 156317793 | CV2251095 | single nucleotide variant | NM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004820935]|Inborn genetic diseases [RCV002809718] | uncertain significance | 5 | 150057298 | 150057298 | Human | 2 | name |
| 156050692 | CV2304599 | single nucleotide variant | NM_001288705.3(CSF1R):c.1435C>A (p.His479Asn) | Inborn genetic diseases [RCV002911184] | uncertain significance | 5 | 150069948 | 150069948 | Human | 1 | name |
| 156145963 | CV2311053 | single nucleotide variant | NM_001288705.3(CSF1R):c.1714A>G (p.Asn572Asp) | Inborn genetic diseases [RCV002915089] | uncertain significance | 5 | 150061762 | 150061762 | Human | 1 | name |
| 156173240 | CV2337660 | single nucleotide variant | NM_001288705.3(CSF1R):c.1241C>T (p.Ser414Phe) | Inborn genetic diseases [RCV002955961]|not provided [RCV003730322] | benign|uncertain significance | 5 | 150070260 | 150070260 | Human | 1 | name |
| 156104800 | CV2352481 | single nucleotide variant | NM_001288705.3(CSF1R):c.1178C>T (p.Thr393Met) | Inborn genetic diseases [RCV002980218] | uncertain significance | 5 | 150070476 | 150070476 | Human | 1 | name |
| 156307403 | CV2369710 | single nucleotide variant | NM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys) | Inborn genetic diseases [RCV003010845] | uncertain significance | 5 | 150054200 | 150054200 | Human | 1 | name |
| 156439974 | CV2401658 | single nucleotide variant | NM_001288705.3(CSF1R):c.2579T>C (p.Leu860Pro) | not provided [RCV003109946] | uncertain significance | 5 | 150055312 | 150055312 | Human | | name |
| 401829054 | CV2668634 | single nucleotide variant | NM_001288705.3(CSF1R):c.2377A>G (p.Lys793Glu) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003326726] | likely pathogenic | 5 | 150056284 | 150056284 | Human | 1 | name , alternate_id |
| 401748825 | CV2706037 | single nucleotide variant | NM_001288705.3(CSF1R):c.1672G>A (p.Gly558Ser) | Inborn genetic diseases [RCV003242605] | uncertain significance | 5 | 150061804 | 150061804 | Human | 1 | name |
| 401766046 | CV2717985 | single nucleotide variant | NM_001288705.3(CSF1R):c.1772G>C (p.Gly591Ala) | Inborn genetic diseases [RCV003282438] | uncertain significance | 5 | 150061577 | 150061577 | Human | 1 | name |
| 401732360 | CV2736702 | single nucleotide variant | NM_001288705.3(CSF1R):c.1238G>T (p.Gly413Val) | Inborn genetic diseases [RCV004333265]|not provided [RCV003313464] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150070263 | 150070263 | Human | 1 | name |
| 401733056 | CV2736799 | single nucleotide variant | NM_001288705.3(CSF1R):c.1990G>A (p.Glu664Lys) | not provided [RCV003313561] | likely pathogenic | 5 | 150059842 | 150059842 | Human | | name |
| 401796616 | CV2740784 | single nucleotide variant | NM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005412541]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003321454] | pathogenic | 5 | 150056109 | 150056109 | Human | 2 | name , alternate_id |
| 401798953 | CV2742723 | single nucleotide variant | NM_001288705.3(CSF1R):c.1583T>C (p.Leu528Ser) | not provided [RCV003325168] | uncertain significance | 5 | 150068258 | 150068258 | Human | | name |
| 401830095 | CV2743984 | single nucleotide variant | NM_001288705.3(CSF1R):c.2801G>T (p.Gly934Val) | not provided [RCV003327159] | uncertain significance | 5 | 150054187 | 150054187 | Human | | name |
| 401869484 | CV2750728 | single nucleotide variant | NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003334444] | likely pathogenic | 5 | 150054220 | 150054220 | Human | 1 | name , alternate_id |
| 401919338 | CV2794868 | single nucleotide variant | NM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala) | not specified [RCV003388543] | uncertain significance | 5 | 150054326 | 150054326 | Human | | name |
| 401917035 | CV2829628 | single nucleotide variant | NM_001288705.3(CSF1R):c.2839T>C (p.Ser947Pro) | not provided [RCV003443672] | uncertain significance | 5 | 150054149 | 150054149 | Human | | name |
| 401914134 | CV2830569 | single nucleotide variant | NM_001288705.3(CSF1R):c.2379G>C (p.Lys793Asn) | not provided [RCV003442307] | uncertain significance | 5 | 150056282 | 150056282 | Human | | name |
| 401960897 | CV2843203 | single nucleotide variant | NM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003479545] | uncertain significance | 5 | 150054179 | 150054179 | Human | 1 | name |
| 402485220 | CV2855274 | single nucleotide variant | NM_001288705.3(CSF1R):c.1474G>A (p.Gly492Arg) | not provided [RCV003544407] | uncertain significance | 5 | 150069909 | 150069909 | Human | | name |
| 405192829 | CV2872197 | single nucleotide variant | NM_001288705.3(CSF1R):c.1195C>G (p.Arg399Gly) | not provided [RCV003550565] | uncertain significance | 5 | 150070459 | 150070459 | Human | | name |
| 405201000 | CV2873410 | single nucleotide variant | NM_001288705.3(CSF1R):c.2080G>A (p.Glu694Lys) | not provided [RCV003551385] | uncertain significance | 5 | 150059752 | 150059752 | Human | | name |
| 405111043 | CV2902999 | single nucleotide variant | NM_001288705.3(CSF1R):c.2656T>C (p.Tyr886His) | not provided [RCV003557898] | uncertain significance | 5 | 150054429 | 150054429 | Human | | name |
| 405218203 | CV2907483 | single nucleotide variant | NM_001288705.3(CSF1R):c.2828A>G (p.Glu943Gly) | not provided [RCV003568054] | uncertain significance | 5 | 150054160 | 150054160 | Human | | name |
| 402474128 | CV2919646 | single nucleotide variant | NM_001288705.3(CSF1R):c.1478G>A (p.Ser493Asn) | not provided [RCV003571132] | uncertain significance | 5 | 150069905 | 150069905 | Human | | name |
| 405066510 | CV2923743 | single nucleotide variant | NM_001288705.3(CSF1R):c.2038G>A (p.Glu680Lys) | not provided [RCV003580848] | uncertain significance | 5 | 150059794 | 150059794 | Human | | name |
| 405056671 | CV2931951 | single nucleotide variant | NM_001288705.3(CSF1R):c.2338G>C (p.Ala780Pro) | not provided [RCV003580100] | uncertain significance | 5 | 150056323 | 150056323 | Human | | name |
| 405015897 | CV2933994 | single nucleotide variant | NM_001288705.3(CSF1R):c.1678A>C (p.Ser560Arg) | not provided [RCV003577061] | uncertain significance | 5 | 150061798 | 150061798 | Human | | name |
| 405069749 | CV2944782 | single nucleotide variant | NM_001288705.3(CSF1R):c.1736G>A (p.Arg579Gln) | not provided [RCV003663909] | uncertain significance | 5 | 150061740 | 150061740 | Human | | name |
| 402486569 | CV2945179 | single nucleotide variant | NM_001288705.3(CSF1R):c.1475G>C (p.Gly492Ala) | not provided [RCV003660129] | uncertain significance | 5 | 150069908 | 150069908 | Human | | name |
| 405149274 | CV2959570 | single nucleotide variant | NM_001288705.3(CSF1R):c.1249C>A (p.Leu417Ile) | not provided [RCV003673883] | uncertain significance | 5 | 150070252 | 150070252 | Human | | name |
| 405173149 | CV2961498 | single nucleotide variant | NM_001288705.3(CSF1R):c.1040C>T (p.Pro347Leu) | not provided [RCV003675546] | uncertain significance | 5 | 150073343 | 150073343 | Human | | name |
| 11596379 | CV296382 | single nucleotide variant | NM_001288705.3(CSF1R):c.1520C>T (p.Thr507Met) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000381774]|not provided [RCV002520343] | likely benign | 5 | 150068321 | 150068321 | Human | 1 | name |
| 405246860 | CV2965818 | single nucleotide variant | NM_001288705.3(CSF1R):c.2006G>A (p.Gly669Asp) | not provided [RCV003685417] | uncertain significance | 5 | 150059826 | 150059826 | Human | | name |
| 405237224 | CV2973620 | single nucleotide variant | NM_001288705.3(CSF1R):c.2012T>C (p.Leu671Pro) | not provided [RCV003683258] | uncertain significance | 5 | 150059820 | 150059820 | Human | | name |
| 11588449 | CV298217 | single nucleotide variant | NM_001288705.3(CSF1R):c.2217G>T (p.Glu739Asp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000302987] | uncertain significance | 5 | 150057508 | 150057508 | Human | 1 | name |
| 11597573 | CV298221 | single nucleotide variant | NM_001288705.3(CSF1R):c.2165C>A (p.Thr722Asn) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000395556] | likely benign | 5 | 150057560 | 150057560 | Human | 1 | name |
| 11661563 | CV298228 | single nucleotide variant | NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000377854] | uncertain significance | 5 | 150070195 | 150070195 | Human | 1 | name |
| 405013682 | CV2994194 | single nucleotide variant | NM_001288705.3(CSF1R):c.2342C>G (p.Ala781Gly) | not provided [RCV003694203] | uncertain significance | 5 | 150056319 | 150056319 | Human | | name |
| 402505355 | CV3007236 | single nucleotide variant | NM_001288705.3(CSF1R):c.2833G>A (p.Glu945Lys) | not provided [RCV003688777] | uncertain significance | 5 | 150054155 | 150054155 | Human | | name |
| 405094649 | CV3022612 | single nucleotide variant | NM_001288705.3(CSF1R):c.1108C>A (p.Arg370Ser) | not provided [RCV003699896] | uncertain significance | 5 | 150070546 | 150070546 | Human | | name |
| 11591673 | CV302316 | single nucleotide variant | NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000331413]|not provided [RCV000973090] | benign|likely benign|conflicting interpretations of pathogenicity | 5 | 150054325 | 150054325 | Human | 1 | name |
| 11650142 | CV302317 | single nucleotide variant | NM_001288705.3(CSF1R):c.2622A>C (p.Gln874His) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000291372]|not provided [RCV004791425] | uncertain significance | 5 | 150055269 | 150055269 | Human | 1 | name |
| 405055769 | CV3023294 | single nucleotide variant | NM_001288705.3(CSF1R):c.2068G>A (p.Gly690Ser) | not provided [RCV003697327] | likely benign | 5 | 150059764 | 150059764 | Human | | name |
| 11597544 | CV302591 | single nucleotide variant | NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000395559]|not provided [RCV000901143] | benign|likely benign | 5 | 150057367 | 150057367 | Human | 1 | name |
| 11591237 | CV302619 | single nucleotide variant | NM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000327207]|not provided [RCV000942553] | benign|likely benign | 5 | 150068235 | 150068235 | Human | 1 | name |
| 11585866 | CV302620 | single nucleotide variant | NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000283749]|not provided [RCV000951260]|not specified [RCV001795972] | benign|likely benign | 5 | 150070264 | 150070264 | Human | 1 | name |
| 11585319 | CV302622 | single nucleotide variant | NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248] | benign | 5 | 150070569 | 150070569 | Human | 2 | name |
| 11585319 | CV302622 | single nucleotide variant | NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248] | benign | 5 | 150070569 | 150070570 | Human | 2 | name |
| 405221691 | CV3038611 | single nucleotide variant | NM_001288705.3(CSF1R):c.1468A>G (p.Ser490Gly) | not provided [RCV003710069] | uncertain significance | 5 | 150069915 | 150069915 | Human | | name |
| 405234650 | CV3040646 | single nucleotide variant | NM_001288705.3(CSF1R):c.1611G>T (p.Leu537Phe) | not provided [RCV003712113] | uncertain significance | 5 | 150068230 | 150068230 | Human | | name |
| 405199664 | CV3041119 | single nucleotide variant | NM_001288705.3(CSF1R):c.2885C>T (p.Pro962Leu) | not provided [RCV003707320] | uncertain significance | 5 | 150054103 | 150054103 | Human | | name |
| 405031453 | CV3077445 | single nucleotide variant | NM_001288705.3(CSF1R):c.1717G>A (p.Glu573Lys) | not provided [RCV003739122] | uncertain significance | 5 | 150061759 | 150061759 | Human | | name |
| 405213227 | CV3078055 | single nucleotide variant | NM_001288705.3(CSF1R):c.1108C>T (p.Arg370Cys) | not provided [RCV003732210] | uncertain significance | 5 | 150070546 | 150070546 | Human | | name |
| 404985582 | CV3128387 | single nucleotide variant | NM_001288705.3(CSF1R):c.2860T>C (p.Cys954Arg) | not provided [RCV003826660] | uncertain significance | 5 | 150054128 | 150054128 | Human | | name |
| 405232800 | CV3144891 | single nucleotide variant | NM_001288705.3(CSF1R):c.2740G>C (p.Ala914Pro) | not provided [RCV003853148] | uncertain significance | 5 | 150054345 | 150054345 | Human | | name |
| 405223773 | CV3158471 | single nucleotide variant | NM_001288705.3(CSF1R):c.1667A>G (p.Tyr556Cys) | not provided [RCV003863967] | uncertain significance | 5 | 150061809 | 150061809 | Human | | name |
| 405228348 | CV3180356 | single nucleotide variant | NM_001288705.3(CSF1R):c.2782A>G (p.Ser928Gly) | not provided [RCV003864776] | uncertain significance | 5 | 150054206 | 150054206 | Human | | name |
| 405653548 | CV3227882 | single nucleotide variant | NM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003994624] | likely pathogenic | 5 | 150056322 | 150056322 | Human | 1 | name , alternate_id |
| 405654884 | CV3228367 | single nucleotide variant | NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003995102] | pathogenic | 5 | 150056031 | 150056031 | Human | 1 | name |
| 405677134 | CV3235977 | single nucleotide variant | NM_001288705.3(CSF1R):c.2843G>A (p.Ser948Asn) | Inborn genetic diseases [RCV004370318] | uncertain significance | 5 | 150054145 | 150054145 | Human | 1 | name |
| 405855010 | CV3395538 | single nucleotide variant | NM_001288705.3(CSF1R):c.1232T>C (p.Ile411Thr) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555786] | uncertain significance | 5 | 150070269 | 150070269 | Human | 1 | name , alternate_id |
| 407428501 | CV3410248 | single nucleotide variant | NM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004587855] | likely pathogenic | 5 | 150056035 | 150056035 | Human | 1 | name |
| 407464834 | CV3429869 | single nucleotide variant | NM_001288705.3(CSF1R):c.2903A>G (p.Asn968Ser) | Inborn genetic diseases [RCV004613556] | uncertain significance | 5 | 150054085 | 150054085 | Human | 1 | name |
| 407464838 | CV3429870 | single nucleotide variant | NM_001288705.3(CSF1R):c.2687A>T (p.Glu896Val) | Inborn genetic diseases [RCV004613557] | uncertain significance | 5 | 150054398 | 150054398 | Human | 1 | name |
| 407464842 | CV3429871 | single nucleotide variant | NM_001288705.3(CSF1R):c.2371G>A (p.Val791Met) | Inborn genetic diseases [RCV004613558] | uncertain significance | 5 | 150056290 | 150056290 | Human | 1 | name |
| 407464850 | CV3429873 | single nucleotide variant | NM_001288705.3(CSF1R):c.1088C>A (p.Thr363Asn) | Inborn genetic diseases [RCV004613560]|not provided [RCV005102150] | uncertain significance | 5 | 150070566 | 150070566 | Human | 1 | name |
| 407496503 | CV3496632 | single nucleotide variant | NM_001288705.3(CSF1R):c.2380A>T (p.Ile794Phe) | not provided [RCV004696833] | likely pathogenic | 5 | 150056281 | 150056281 | Human | | name |
| 408394463 | CV3518282 | single nucleotide variant | NM_001288705.3(CSF1R):c.2287G>A (p.Ala763Thr) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004759605] | likely pathogenic | 5 | 150057319 | 150057319 | Human | 1 | name , alternate_id |
| 408389270 | CV3522991 | single nucleotide variant | NM_001288705.3(CSF1R):c.2510A>T (p.Asp837Val) | not provided [RCV004769372] | uncertain significance | 5 | 150056070 | 150056070 | Human | | name |
| 408393859 | CV3526250 | single nucleotide variant | NM_001288705.3(CSF1R):c.1510G>A (p.Gly504Arg) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004771682] | uncertain significance | 5 | 150069873 | 150069873 | Human | 1 | name , alternate_id |
| 596931244 | CV3531577 | single nucleotide variant | NM_001288705.3(CSF1R):c.2008G>A (p.Asp670Asn) | not provided [RCV004781139] | uncertain significance | 5 | 150059824 | 150059824 | Human | | name |
| 596927043 | CV3532469 | single nucleotide variant | NM_001288705.3(CSF1R):c.2246C>T (p.Pro749Leu) | not provided [RCV004778567] | uncertain significance | 5 | 150057360 | 150057360 | Human | | name |
| 596922168 | CV3534762 | single nucleotide variant | NM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg) | not provided [RCV004784319] | conflicting interpretations of pathogenicity | 5 | 150057324 | 150057324 | Human | | name |
| 596929098 | CV3540798 | single nucleotide variant | NM_001288705.3(CSF1R):c.2473G>C (p.Glu825Gln) | not provided [RCV004795127] | uncertain significance | 5 | 150056107 | 150056107 | Human | | name |
| 596927883 | CV3541185 | single nucleotide variant | NM_001288705.3(CSF1R):c.2563C>A (p.Pro855Thr) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004797056] | likely pathogenic | 5 | 150055328 | 150055328 | Human | 1 | name , alternate_id |
| 12742959 | CV361456 | single nucleotide variant | NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile) | not provided [RCV000415805] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150069963 | 150069963 | Human | | name |
| 12840577 | CV363045 | single nucleotide variant | NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) | Hematologic neoplasm [RCV000430977]|Myeloproliferative disorder [RCV000440400] | likely pathogenic | 5 | 150061765 | 150061765 | Human | 2 | name |
| 12834382 | CV363147 | single nucleotide variant | NM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter) | Neoplasm [RCV000418290] | likely pathogenic | 5 | 150054081 | 150054081 | Human | 1 | name |
| 12839768 | CV363148 | single nucleotide variant | NM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter) | Neoplasm [RCV000429439] | likely pathogenic | 5 | 150054081 | 150054081 | Human | 1 | name |
| 12834481 | CV363149 | single nucleotide variant | NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe) | Hematologic neoplasm [RCV000439671]|Neoplasm [RCV000419424] | likely pathogenic | 5 | 150054082 | 150054082 | Human | 2 | name |
| 12839910 | CV363150 | single nucleotide variant | NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys) | Hematologic neoplasm [RCV000440792]|Neoplasm [RCV000429697] | likely pathogenic | 5 | 150054082 | 150054082 | Human | 2 | name |
| 12836343 | CV363151 | single nucleotide variant | NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His) | Hematologic neoplasm [RCV000434345]|Neoplasm [RCV000423228] | likely pathogenic | 5 | 150054083 | 150054083 | Human | 2 | name |
| 597665004 | CV3654403 | single nucleotide variant | NM_001288705.3(CSF1R):c.2178G>A (p.Met726Ile) | Inborn genetic diseases [RCV004979241] | uncertain significance | 5 | 150057547 | 150057547 | Human | 1 | name |
| 597665008 | CV3654404 | single nucleotide variant | NM_001288705.3(CSF1R):c.1407G>C (p.Gln469His) | Inborn genetic diseases [RCV004979242] | uncertain significance | 5 | 150069976 | 150069976 | Human | 1 | name |
| 597665015 | CV3654406 | single nucleotide variant | NM_001288705.3(CSF1R):c.1918C>G (p.Leu640Val) | Inborn genetic diseases [RCV004979243] | uncertain significance | 5 | 150060913 | 150060913 | Human | 1 | name |
| 597665035 | CV3654409 | single nucleotide variant | NM_001288705.3(CSF1R):c.1273C>T (p.Pro425Ser) | Inborn genetic diseases [RCV004979246] | uncertain significance | 5 | 150070228 | 150070228 | Human | 1 | name |
| 597665049 | CV3654411 | single nucleotide variant | NM_001288705.3(CSF1R):c.2245C>A (p.Pro749Thr) | Inborn genetic diseases [RCV004979248] | uncertain significance | 5 | 150057361 | 150057361 | Human | 1 | name |
| 597833514 | CV3735008 | single nucleotide variant | NM_001288705.3(CSF1R):c.1846A>C (p.Lys616Gln) | not provided [RCV005054741] | uncertain significance | 5 | 150061503 | 150061503 | Human | | name |
| 597917681 | CV3741193 | single nucleotide variant | NM_001288705.3(CSF1R):c.2243G>A (p.Arg748Gln) | not provided [RCV005074340] | likely benign | 5 | 150057363 | 150057363 | Human | | name |
| 597933722 | CV3742732 | single nucleotide variant | NM_001288705.3(CSF1R):c.1133G>A (p.Arg378His) | not provided [RCV005076171] | uncertain significance | 5 | 150070521 | 150070521 | Human | | name |
| 597934077 | CV3750392 | single nucleotide variant | NM_001288705.3(CSF1R):c.2113G>A (p.Glu705Lys) | not provided [RCV005076317] | likely benign | 5 | 150059719 | 150059719 | Human | | name |
| 597965137 | CV3751097 | single nucleotide variant | NM_001288705.3(CSF1R):c.2108A>G (p.His703Arg) | not provided [RCV005082659] | uncertain significance | 5 | 150059724 | 150059724 | Human | | name |
| 597953143 | CV3756657 | single nucleotide variant | NM_001288705.3(CSF1R):c.1879A>G (p.Lys627Glu) | not provided [RCV005079715] | uncertain significance | 5 | 150060952 | 150060952 | Human | | name |
| 597913533 | CV3771000 | single nucleotide variant | NM_001288705.3(CSF1R):c.2468C>G (p.Ala823Gly) | not provided [RCV005114119] | uncertain significance | 5 | 150056112 | 150056112 | Human | | name |
| 597913543 | CV3771001 | single nucleotide variant | NM_001288705.3(CSF1R):c.2150G>A (p.Ser717Asn) | not provided [RCV005114120] | uncertain significance | 5 | 150057575 | 150057575 | Human | | name |
| 597913555 | CV3771002 | single nucleotide variant | NM_001288705.3(CSF1R):c.1996T>A (p.Cys666Ser) | not provided [RCV005114121] | uncertain significance | 5 | 150059836 | 150059836 | Human | | name |
| 597913575 | CV3771004 | single nucleotide variant | NM_001288705.3(CSF1R):c.1595T>A (p.Leu532Gln) | not provided [RCV005114123] | uncertain significance | 5 | 150068246 | 150068246 | Human | | name |
| 597913585 | CV3771005 | single nucleotide variant | NM_001288705.3(CSF1R):c.1532A>C (p.Asp511Ala) | not provided [RCV005114124] | uncertain significance | 5 | 150068309 | 150068309 | Human | | name |
| 597913593 | CV3771006 | single nucleotide variant | NM_001288705.3(CSF1R):c.1162G>T (p.Gly388Cys) | not provided [RCV005114125] | uncertain significance | 5 | 150070492 | 150070492 | Human | | name |
| 597913604 | CV3771007 | single nucleotide variant | NM_001288705.3(CSF1R):c.1049A>C (p.Lys350Thr) | not provided [RCV005114126] | uncertain significance | 5 | 150073334 | 150073334 | Human | | name |
| 597871898 | CV3805217 | single nucleotide variant | NM_001288705.3(CSF1R):c.1646G>A (p.Arg549His) | not provided [RCV005148495] | likely benign | 5 | 150061830 | 150061830 | Human | | name |
| 597923464 | CV3808516 | single nucleotide variant | NM_001288705.3(CSF1R):c.1517A>G (p.His506Arg) | not provided [RCV005156030] | uncertain significance | 5 | 150068324 | 150068324 | Human | | name |
| 597918578 | CV3811305 | single nucleotide variant | NM_001288705.3(CSF1R):c.2908C>A (p.Gln970Lys) | not provided [RCV005155340] | uncertain significance | 5 | 150054080 | 150054080 | Human | | name |
| 597941173 | CV3819212 | single nucleotide variant | NM_001288705.3(CSF1R):c.1703A>G (p.Gln568Arg) | not provided [RCV005159023] | uncertain significance | 5 | 150061773 | 150061773 | Human | | name |
| 597965992 | CV3823659 | single nucleotide variant | NM_001288705.3(CSF1R):c.1997G>A (p.Cys666Tyr) | not provided [RCV005165079] | uncertain significance | 5 | 150059835 | 150059835 | Human | | name |
| 597838973 | CV3824870 | single nucleotide variant | NM_001288705.3(CSF1R):c.1186C>A (p.Leu396Ile) | not provided [RCV005171734] | uncertain significance | 5 | 150070468 | 150070468 | Human | | name |
| 597833640 | CV3831499 | single nucleotide variant | NM_001288705.3(CSF1R):c.1535A>T (p.Glu512Val) | not provided [RCV005170701] | uncertain significance | 5 | 150068306 | 150068306 | Human | | name |
| 8567936 | CV38765 | single nucleotide variant | NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000022684]|not provided [RCV005089298] | pathogenic | 5 | 150055267 | 150055267 | Human | 1 | name |
| 8567937 | CV38766 | single nucleotide variant | NM_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 pathogenic | 5 | 150060934 | 150060934 | Human | 1 | name , alternate_id |
| 8567940 | CV38769 | single nucleotide variant | NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000022688] | pathogenic | 5 | 150056071 | 150056071 | Human | 1 | name |
| 598126699 | CV3882154 | single nucleotide variant | NM_001288705.3(CSF1R):c.1445C>A (p.Thr482Asn) | not provided [RCV005233705] | uncertain significance | 5 | 150069938 | 150069938 | Human | | name |
| 598217705 | CV3891564 | single nucleotide variant | NM_001288705.3(CSF1R):c.2666T>C (p.Met889Thr) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005252406] | uncertain significance | 5 | 150054419 | 150054419 | Human | 1 | name , alternate_id |
| 598160469 | CV3897282 | single nucleotide variant | NM_001288705.3(CSF1R):c.1991A>T (p.Glu664Val) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005368252] | likely pathogenic | 5 | 150059841 | 150059841 | Human | 1 | name , alternate_id |
| 598260819 | CV3963149 | single nucleotide variant | NM_001288705.3(CSF1R):c.2612A>T (p.Asp871Val) | Inborn genetic diseases [RCV005325049] | uncertain significance | 5 | 150055279 | 150055279 | Human | 1 | name |
| 616940228 | CV4014738 | single nucleotide variant | NM_001288705.3(CSF1R):c.1207G>T (p.Glu403Ter) | not provided [RCV005414232] | likely pathogenic | 5 | 150070294 | 150070294 | Human | | name |
| 617148469 | CV4017003 | single nucleotide variant | NM_001288705.3(CSF1R):c.1897G>C (p.Glu633Gln) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV005416150] | uncertain significance | 5 | 150060934 | 150060934 | Human | 1 | name , alternate_id |
| 12893462 | CV406661 | single nucleotide variant | NM_001288705.3(CSF1R):c.2450T>A (p.Leu817Gln) | not provided [RCV000479111] | likely pathogenic | 5 | 150056130 | 150056130 | Human | | name |
| 12906080 | CV413695 | single nucleotide variant | NM_001288705.3(CSF1R):c.2345G>T (p.Arg782Leu) | not provided [RCV000488391] | likely pathogenic | 5 | 150056316 | 150056316 | Human | | name |
| 13211623 | CV425626 | single nucleotide variant | NM_001288705.3(CSF1R):c.2873A>T (p.Asp958Val) | not provided [RCV000497696] | uncertain significance | 5 | 150054115 | 150054115 | Human | | name |
| 13446174 | CV438307 | single nucleotide variant | NM_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 significance | 5 | 150054339 | 150054339 | Human | 2 | name |
| 13445665 | CV438308 | single nucleotide variant | NM_001288705.3(CSF1R):c.1202C>T (p.Pro401Leu) | not provided [RCV000512701] | uncertain significance | 5 | 150070299 | 150070299 | Human | | name |
| 8570061 | CV46934 | single nucleotide variant | NM_001288705.3(CSF1R):c.1766G>A (p.Gly589Glu) | not provided [RCV001852634] | pathogenic | 5 | 150061583 | 150061583 | Human | | name |
| 8570062 | CV46935 | single nucleotide variant | NM_001288705.3(CSF1R):c.2297T>C (p.Met766Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031928] | pathogenic | 5 | 150057309 | 150057309 | Human | | name , alternate_id |
| 8570063 | CV46936 | single nucleotide variant | NM_001288705.3(CSF1R):c.2308G>C (p.Ala770Pro) | not provided [RCV001268235] | pathogenic | 5 | 150057298 | 150057298 | Human | | name |
| 8570065 | CV46938 | single nucleotide variant | NM_001288705.3(CSF1R):c.2324T>A (p.Ile775Asn) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031931] | pathogenic | 5 | 150056337 | 150056337 | Human | | name , alternate_id |
| 8570066 | CV46939 | single nucleotide variant | NM_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 pathogenic | 5 | 150056316 | 150056316 | Human | 2 | name , alternate_id |
| 8570068 | CV46941 | single nucleotide variant | NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser) | CSF1R-related leukoencephalopathy [RCV005417368] | pathogenic|likely pathogenic | 5 | 150056034 | 150056034 | Human | | name , trait |
| 8570070 | CV46943 | single nucleotide variant | NM_001288705.3(CSF1R):c.2603T>C (p.Leu868Pro) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031936] | pathogenic | 5 | 150055288 | 150055288 | Human | | name , alternate_id |
| 8570071 | CV46944 | single nucleotide variant | NM_001288705.3(CSF1R):c.2632C>A (p.Pro878Thr) | not provided [RCV003555218] | pathogenic|uncertain significance | 5 | 150055259 | 150055259 | Human | | name |
| 13532854 | CV511578 | single nucleotide variant | NM_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 significance | 5 | 150069942 | 150069942 | Human | 3 | name |
| 14350265 | CV590943 | single nucleotide variant | NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) | Alzheimer disease [RCV000736245] | likely pathogenic | 5 | 150054414 | 150054414 | Human | 2 | name |
| 14350268 | CV590944 | single nucleotide variant | NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) | Alzheimer disease [RCV000736246] | likely pathogenic | 5 | 150056335 | 150056335 | Human | 2 | name |
| 14397050 | CV612703 | single nucleotide variant | NM_001288705.3(CSF1R):c.2304C>A (p.Phe768Leu) | not provided [RCV000762177] | likely pathogenic|uncertain significance | 5 | 150057302 | 150057302 | Human | | name |
| 14696643 | CV622960 | single nucleotide variant | NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785990]|not provided [RCV003117575] | pathogenic|uncertain significance | 5 | 150060902 | 150060902 | Human | 1 | name |
| 15107808 | CV721298 | single nucleotide variant | NM_001288705.3(CSF1R):c.2762G>A (p.Arg921Gln) | not provided [RCV000893554] | likely benign | 5 | 150054323 | 150054323 | Human | | name |
| 15107428 | CV749338 | single nucleotide variant | NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) | not provided [RCV000915953] | likely benign|conflicting interpretations of pathogenicity | 5 | 150061550 | 150061550 | Human | | name |
| 15150827 | CV749339 | single nucleotide variant | NM_001288705.3(CSF1R):c.1760C>T (p.Thr587Ile) | not provided [RCV000923549] | likely benign | 5 | 150061589 | 150061589 | Human | | name |
| 8573326 | CV76592 | single nucleotide variant | NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000055910] | pathogenic|not provided | 5 | 150060873 | 150060873 | Human | 1 | name |
| 8573327 | CV76593 | single nucleotide variant | NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000055911]|not provided [RCV001854158] | pathogenic|not provided | 5 | 150056332 | 150056332 | Human | 1 | name |
| 8573328 | CV76594 | single nucleotide variant | NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000055912] | pathogenic | 5 | 150056097 | 150056097 | Human | 1 | name |
| 15138198 | CV782218 | single nucleotide variant | NM_001288705.3(CSF1R):c.2240G>T (p.Gly747Val) | Inborn genetic diseases [RCV004030068]|not provided [RCV000982432] | likely benign|uncertain significance | 5 | 150057366 | 150057366 | Human | 1 | name |
| 21071402 | CV790526 | single nucleotide variant | NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000987617] | uncertain significance | 5 | 150056049 | 150056049 | Human | 1 | name |
| 21069154 | CV795658 | single nucleotide variant | NM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp) | not provided [RCV000998469] | likely pathogenic | 5 | 150056286 | 150056286 | Human | | name |
| 21069155 | CV795659 | single nucleotide variant | NM_001288705.3(CSF1R):c.1796C>T (p.Ala599Val) | not provided [RCV000998470] | uncertain significance | 5 | 150061553 | 150061553 | Human | | name |
| 26920845 | CV830536 | single nucleotide variant | NM_001288705.3(CSF1R):c.2537G>C (p.Trp846Ser) | not provided [RCV001048634] | uncertain significance | 5 | 150056043 | 150056043 | Human | | name |
| 28875894 | CV858702 | single nucleotide variant | NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys) | Frontotemporal dementia [RCV001090101]|not provided [RCV003558660] | likely pathogenic|uncertain significance | 5 | 150054386 | 150054386 | Human | 2 | name |
| 28877106 | CV859402 | single nucleotide variant | NM_001288705.3(CSF1R):c.2210T>C (p.Phe737Ser) | not provided [RCV001090376] | uncertain significance | 5 | 150057515 | 150057515 | Human | | name |
| 28877114 | CV859403 | single nucleotide variant | NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys) | not provided [RCV001090377] | conflicting interpretations of pathogenicity|uncertain significance | 5 | 150070522 | 150070522 | Human | | name |
| 28902589 | CV893590 | single nucleotide variant | NM_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 significance | 5 | 150055288 | 150055288 | Human | 1 | name , alternate_id |
| 28902798 | CV893597 | single nucleotide variant | NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157283]|not provided [RCV002557343] | likely benign|uncertain significance | 5 | 150070281 | 150070281 | Human | 1 | name |
| 28902801 | CV893598 | single nucleotide variant | NM_001288705.3(CSF1R):c.1216G>A (p.Val406Ile) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001157284]|Inborn genetic diseases [RCV004978068]|not provided [RCV003769752] | benign|likely benign | 5 | 150070285 | 150070285 | Human | 2 | name |
| 34891253 | CV904458 | single nucleotide variant | NM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg) | not provided [RCV001171968] | likely pathogenic | 5 | 150056109 | 150056109 | Human | | name |
| 38460976 | CV918930 | single nucleotide variant | NM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp) | See cases [RCV001197110] | uncertain significance | 5 | 150054072 | 150054072 | Human | | name |
| 38459651 | CV918931 | single nucleotide variant | NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196009]|not provided [RCV001876271] | uncertain significance | 5 | 150069981 | 150069981 | Human | 1 | name |
| 38598511 | CV964246 | single nucleotide variant | NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001253704] | uncertain significance | 5 | 150056063 | 150056063 | Human | 1 | name |
| 40814811 | CV970150 | single nucleotide variant | NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001261535]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003393930] | likely pathogenic | 5 | 150061577 | 150061577 | Human | 1 | name , alternate_id |
| 40889860 | CV975155 | single nucleotide variant | NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002293254] | pathogenic|uncertain significance | 5 | 150061827 | 150061827 | Human | 1 | name , alternate_id |
| 156319705 | CV2111908 | deletion | NM_001288705.3(CSF1R):c.242_264del (p.Thr81fs) | not provided [RCV002937669] | pathogenic|uncertain significance | 5 | 150080810 | 150080832 | Human | | name |
| 150531063 | CV1299271 | microsatellite | NM_001288705.3(CSF1R):c.716ACA[2] (p.Asn241del) | not provided [RCV001756964] | uncertain significance | 5 | 150078117 | 150078119 | Human | | name |
| 151844601 | CV1381457 | microsatellite | NM_001288705.3(CSF1R):c.1654ATC[1] (p.Ile553del) | not provided [RCV001881778] | uncertain significance | 5 | 150061817 | 150061819 | Human | | name |
| 151795523 | CV1434479 | microsatellite | NM_001288705.3(CSF1R):c.2827GAG[2] (p.Glu945del) | not provided [RCV001866646] | uncertain significance | 5 | 150054153 | 150054155 | Human | | name |
| 8570069 | CV46942 | microsatellite | NM_001288705.3(CSF1R):c.2543TCT[1] (p.Phe849del) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000031935] | pathogenic | 5 | 150056032 | 150056034 | Human | | name , alternate_id |
| 151816916 | CV1385555 | deletion | NM_001288705.3(CSF1R):c.2370_2377del (p.His790fs) | not provided [RCV002012996] | pathogenic|uncertain significance | 5 | 150056284 | 150056291 | Human | | name |
| 151863325 | CV1498487 | microsatellite | NM_001288705.3(CSF1R):c.1100_1103del (p.Ser367fs) | not provided [RCV001980410] | pathogenic|uncertain significance | 5 | 150070551 | 150070554 | Human | | name |
| 12907430 | CV227280 | duplication | NM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000490465] | likely pathogenic|uncertain significance | 5 | 150054078 | 150054079 | Human | 1 | name |
| 597943488 | CV3812349 | microsatellite | NM_001288705.3(CSF1R):c.2491_2492del (p.Val831fs) | not provided [RCV005159559] | pathogenic | 5 | 150056088 | 150056089 | Human | | name |
| 151353443 | CV1326573 | deletion | NM_001288705.3(CSF1R):c.1939_1941del (p.Val647del) | not provided [RCV001816409] | uncertain significance | 5 | 150060890 | 150060892 | Human | | name |
| 151782150 | CV1360477 | inversion | NM_001288705.3(CSF1R):c.1084_1085inv (p.His362Cys) | not provided [RCV001865065] | uncertain significance | 5 | 150070569 | 150070570 | Human | | name |
| 151891531 | CV1410113 | deletion | NM_001288705.3(CSF1R):c.2210_2212del (p.Phe737del) | not provided [RCV001943406] | uncertain significance | 5 | 150057513 | 150057515 | Human | | name |
| 151853145 | CV1502142 | microsatellite | NM_001288705.3(CSF1R):c.2800GGCAGC[3] (p.934GS[3]) | CSF1R-related leukoencephalopathy [RCV005417361]|not provided [RCV001937620] | uncertain significance | 5 | 150054176 | 150054177 | Human | | name , trait |
| 13483533 | CV443720 | deletion | NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) | Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785987]|not provided [RCV000522082] | pathogenic|uncertain significance | 5 | 150060950 | 150060952 | Human | 1 | name |
| 38597831 | CV964245 | deletion | NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) | Hereditary diffuse leukoencephalopathy with spheroids [RCV001253191]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003992481] | uncertain significance | 5 | 150054363 | 150054365 | Human | 1 | name , alternate_id |
| 405269205 | CV3187244 | insertion | NM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter) | not provided [RCV003887328] | pathogenic | 5 | 150061793 | 150061794 | Human | | name |
| 151885906 | CV1367087 | microsatellite | NM_001288705.3(CSF1R):c.2808CAG[2] (p.Ser939_Ser940del) | not provided [RCV002000578] | uncertain significance | 5 | 150054169 | 150054174 | Human | | name |
| 151709371 | CV1375838 | indel | NM_001288705.3(CSF1R):c.2165_2166delinsAT (p.Thr722Asn) | not provided [RCV001963975] | uncertain significance | 5 | 150057559 | 150057560 | Human | | name |
| 151842681 | CV1514365 | microsatellite | NM_001288705.3(CSF1R):c.2808CAG[6] (p.Ser939_Ser940dup) | not provided [RCV001956944] | uncertain significance | 5 | 150054168 | 150054169 | Human | | name |
| 156013740 | CV1986152 | indel | NM_001288705.3(CSF1R):c.1030_1031delinsTT (p.Asp344Phe) | not provided [RCV002636357] | uncertain significance | 5 | 150073352 | 150073353 | Human | | name |
| 151877138 | CV1390445 | duplication | NM_001288705.3(CSF1R):c.2806_2814dup (p.Gly936_Ser938dup) | not provided [RCV001940538] | uncertain significance | 5 | 150054173 | 150054174 | Human | | name |
| 151728432 | CV1505240 | deletion | NM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del) | not provided [RCV002021046] | uncertain significance | 5 | 150054183 | 150054203 | Human | | name |
| 156279923 | CV2054885 | deletion | NM_001288705.3(CSF1R):c.2797_2817del (p.Gly933_Ser939del) | not provided [RCV002832805] | uncertain significance | 5 | 150054171 | 150054191 | Human | | name |
| 405240166 | CV2990060 | deletion | NM_001288705.3(CSF1R):c.2797_2814del (p.Gly933_Ser938del) | not provided [RCV003683892] | uncertain significance | 5 | 150054174 | 150054191 | Human | | name |
| 405253046 | CV3044197 | deletion | NM_001288705.3(CSF1R):c.2056_2079del (p.Ser686_Pro693del) | not provided [RCV003722389] | likely benign | 5 | 150059753 | 150059776 | Human | | name |
| 405224786 | CV3142247 | deletion | NM_001288705.3(CSF1R):c.2793_2819del (p.Arg931_Ser939del) | Hereditary diffuse leukoencephalopathy with spheroids [RCV005414714]|not provided [RCV003847786] | uncertain significance | 5 | 150054169 | 150054195 | Human | 1 | name |
| 596942635 | CV3544078 | microsatellite | NM_001288705.3(CSF1R):c.1584GCT[6] (p.Leu537_Tyr538insLeu) | not specified [RCV004800068] | uncertain significance | 5 | 150068242 | 150068243 | Human | | name |
| 405068380 | CV2936849 | duplication | NM_001288705.3(CSF1R):c.2806_2808dup (p.Gly936_Ser937insGly) | not provided [RCV003659270] | uncertain significance | 5 | 150054179 | 150054180 | Human | | name |
| 597664997 | CV3654402 | duplication | NM_001288705.3(CSF1R):c.2797_2802dup (p.Gly934_Ser935insGlyGly) | Inborn genetic diseases [RCV004979240]|not provided [RCV005061687] | uncertain significance | 5 | 150054185 | 150054186 | Human | 1 | name |
| 14352122 | CV540579 | indel | NM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) | Hereditary diffuse leukoencephalopathy with spheroids [RCV000754617] | pathogenic | 5 | 150056050 | 150056053 | Human | | name |
| 156444403 | CV1938264 | duplication | NM_001288705.3(CSF1R):c.1404_1421dup (p.Val474_Glu475insGlnSerLeuLeuThrVal) | not provided [RCV003115327] | uncertain significance | 5 | 150069961 | 150069962 | Human | | name |