| NM_001288705.3(CSF1R):c.1766G>A (p.Gly589Glu) |
single nucleotide variant |
not provided [RCV001852634] |
Chr5:150061583 [GRCh38]
Chr5:149441146 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2297T>C (p.Met766Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031928] |
Chr5:150057309 [GRCh38]
Chr5:149436872 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2308G>C (p.Ala770Pro) |
single nucleotide variant |
not provided [RCV001268235] |
Chr5:150057298 [GRCh38]
Chr5:149436861 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2320-2A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031930] |
Chr5:150056343 [GRCh38]
Chr5:149435906 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2324T>A (p.Ile775Asn) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031931] |
Chr5:150056337 [GRCh38]
Chr5:149435900 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002482936]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000031932]|not provided [RCV001561353] |
Chr5:150056316 [GRCh38]
Chr5:149435879 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001288705.3(CSF1R):c.2442+5G>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031933] |
Chr5:150056214 [GRCh38]
Chr5:149435777 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2546T>C (p.Phe849Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031934] |
Chr5:150056034 [GRCh38]
Chr5:149435597 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2543TCT[1] (p.Phe849del) |
microsatellite |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031935] |
Chr5:150056032..150056034 [GRCh38]
Chr5:149435595..149435597 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2603T>C (p.Leu868Pro) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000031936] |
Chr5:150055288 [GRCh38]
Chr5:149434851 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2632C>A (p.Pro878Thr) |
single nucleotide variant |
not provided [RCV003555218] |
Chr5:150055259 [GRCh38]
Chr5:149434822 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000022684]|not provided [RCV005089298] |
Chr5:150055267 [GRCh38]
Chr5:149434830 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000022685]|not provided [RCV001565941] |
Chr5:150060934 [GRCh38]
Chr5:149440497 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001288705.3(CSF1R):c.1754-2A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000022686] |
Chr5:150061597 [GRCh38]
Chr5:149441160 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) |
single nucleotide variant |
CSF1R-related disorder [RCV003944835]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000022687]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004795936]|not provided [RCV001090375] |
Chr5:150056280 [GRCh38]
Chr5:149435843 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000022688] |
Chr5:150056071 [GRCh38]
Chr5:149435634 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.592G>T (p.Val198Phe) |
single nucleotide variant |
not provided [RCV000519164] |
Chr5:150080052 [GRCh38]
Chr5:149459615 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000055910] |
Chr5:150060873 [GRCh38]
Chr5:149440436 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000055911]|not provided [RCV001854158] |
Chr5:150056332 [GRCh38]
Chr5:149435895 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000055912] |
Chr5:150056097 [GRCh38]
Chr5:149435660 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2442+1G>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000106404] |
Chr5:150056218 [GRCh38]
Chr5:149435781 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000106405] |
Chr5:150056319 [GRCh38]
Chr5:149435882 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 |
copy number gain |
See cases [RCV000051863] |
Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2 |
pathogenic |
| NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) |
duplication |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000106403] |
Chr5:150059771..150059772 [GRCh38]
Chr5:149439334..149439335 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2613T>G (p.Asp871Glu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001333368]|not provided [RCV003770849] |
Chr5:150055278 [GRCh38]
Chr5:149434841 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1131C>T (p.Gly377=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001333366]|not provided [RCV002070174] |
Chr5:150070523 [GRCh38]
Chr5:149450086 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2222-18C>T |
single nucleotide variant |
not provided [RCV001579544] |
Chr5:150057402 [GRCh38]
Chr5:149436965 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003333152] |
Chr5:150056077 [GRCh38]
Chr5:149435640 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) |
deletion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149521] |
Chr5:150061777 [GRCh38]
Chr5:149441340 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149522] |
Chr5:150060942 [GRCh38]
Chr5:149440505 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) |
single nucleotide variant |
CSF1R-related disorder [RCV003398795]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000149523]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004760398]|not provided [RCV001850025] |
Chr5:150056331 [GRCh38]
Chr5:149435894 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149524] |
Chr5:150056130 [GRCh38]
Chr5:149435693 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149525] |
Chr5:150056100 [GRCh38]
Chr5:149435663 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149526]|not provided [RCV005089720] |
Chr5:150056039 [GRCh38]
Chr5:149435602 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149527] |
Chr5:150055325 [GRCh38]
Chr5:149434888 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149528] |
Chr5:150054384 [GRCh38]
Chr5:149433947 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2655-2A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149529] |
Chr5:150054432 [GRCh38]
Chr5:149433995 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149530]|not provided [RCV001850026] |
Chr5:150056319 [GRCh38]
Chr5:149435882 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149531] |
Chr5:150056052 [GRCh38]
Chr5:149435615 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149532]|not provided [RCV000585150] |
Chr5:150055262 [GRCh38]
Chr5:149434825 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149533] |
Chr5:150056068 [GRCh38]
Chr5:149435631 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149534] |
Chr5:150056053 [GRCh38]
Chr5:149435616 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149535]|not provided [RCV001753529] |
Chr5:150060874 [GRCh38]
Chr5:149440437 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance|not provided |
| NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149536]|not provided [RCV001850027] |
Chr5:150054368 [GRCh38]
Chr5:149433931 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance|not provided |
| NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149537] |
Chr5:150056283 [GRCh38]
Chr5:149435846 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_005211.3(CSF1R):c.2467C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149538] |
Chr5:150056112 [GRCh38]
Chr5:149435675 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149539]|not provided [RCV003556199] |
Chr5:150061731 [GRCh38]
Chr5:149441294 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance|not provided |
| NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989326]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000149540] |
Chr5:150056311 [GRCh38]
Chr5:149435874 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic|not provided |
| NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149541]|not provided [RCV001171967] |
Chr5:150055329 [GRCh38]
Chr5:149434892 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance|not provided |
| NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000149542] |
Chr5:150057312 [GRCh38]
Chr5:149436875 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001288705.3(CSF1R):c.1929C>T (p.His643=) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002504163]|CSF1R-related disorder [RCV003902363]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000259350]|not provided [RCV000906141] |
Chr5:150060902 [GRCh38]
Chr5:149440465 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) |
single nucleotide variant |
CSF1R-related disorder [RCV003922550]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000262118]|not provided [RCV000881997]|not specified [RCV001579408] |
Chr5:150054189 [GRCh38]
Chr5:149433752 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000265552]|Inborn genetic diseases [RCV002520344]|not provided [RCV000998471] |
Chr5:150080126 [GRCh38]
Chr5:149459689 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*249A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000278261] |
Chr5:150053820 [GRCh38]
Chr5:149433383 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000283749]|not provided [RCV000951260]|not specified [RCV001795972] |
Chr5:150070264 [GRCh38]
Chr5:149449827 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000280124]|not provided [RCV001522248] |
Chr5:150070569 [GRCh38]
Chr5:149450132 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.294C>T (p.His98=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000280856]|not provided [RCV001517535]|not specified [RCV001579463] |
Chr5:150080780 [GRCh38]
Chr5:149460343 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.*500C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000282534] |
Chr5:150053569 [GRCh38]
Chr5:149433132 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) |
single nucleotide variant |
CSF1R-related disorder [RCV003932442]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000265478]|not provided [RCV002058516] |
Chr5:150054102 [GRCh38]
Chr5:149433665 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.*715C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000270938] |
Chr5:150053354 [GRCh38]
Chr5:149432917 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3 |
likely benign |
| NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000275379]|not provided [RCV000921039] |
Chr5:150061775 [GRCh38]
Chr5:149441338 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1626+3G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000272029]|Inborn genetic diseases [RCV002520342]|not provided [RCV000971516] |
Chr5:150068212 [GRCh38]
Chr5:149447775 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2761C>T (p.Arg921Trp) |
single nucleotide variant |
CSF1R-related disorder [RCV003950249]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000276317]|not provided [RCV002061267] |
Chr5:150054324 [GRCh38]
Chr5:149433887 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) |
deletion |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785987]|not provided [RCV000522082] |
Chr5:150060950..150060952 [GRCh38]
Chr5:149440513..149440515 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.*539C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000266964] |
Chr5:150053530 [GRCh38]
Chr5:149433093 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662318]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000268833]|not provided [RCV001521046] |
Chr5:150078115 [GRCh38]
Chr5:149457678 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2132+8del |
deletion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000299252] |
Chr5:150059692 [GRCh38]
Chr5:149439255 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*234del |
deletion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000351959] |
Chr5:150053835 [GRCh38]
Chr5:149433398 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*199A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000396988] |
Chr5:150053870 [GRCh38]
Chr5:149433433 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_005211.4(CSF1R):c.-230GAAGAG[3] |
microsatellite |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000299451] |
Chr5:150113287..150113292 [GRCh38]
Chr5:149492850..149492855 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2132+5C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000354126]|not provided [RCV001521045]|not specified [RCV001795971] |
Chr5:150059695 [GRCh38]
Chr5:149439258 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.*64C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000399133] |
Chr5:150054005 [GRCh38]
Chr5:149433568 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1083-8T>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000335208]|not provided [RCV000971517] |
Chr5:150070579 [GRCh38]
Chr5:149450142 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*512T>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000376771] |
Chr5:150053557 [GRCh38]
Chr5:149433120 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) |
single nucleotide variant |
CSF1R-related disorder [RCV003970025]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000302042]|not provided [RCV001357348] |
Chr5:150054126 [GRCh38]
Chr5:149433689 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) |
single nucleotide variant |
CSF1R-related disorder [RCV003972479]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000317221]|not provided [RCV000887672]|not specified [RCV001579464] |
Chr5:150080792 [GRCh38]
Chr5:149460355 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000317297]|not provided [RCV002061266] |
Chr5:150054192 [GRCh38]
Chr5:149433755 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_005211.4(CSF1R):c.-249G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000356358] |
Chr5:150113329 [GRCh38]
Chr5:149492892 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000356906]|not provided [RCV000894549] |
Chr5:150054183 [GRCh38]
Chr5:149433746 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*774A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000401954] |
Chr5:150053295 [GRCh38]
Chr5:149432858 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) |
single nucleotide variant |
CSF1R-related disorder [RCV003912501]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000401860]|Inborn genetic diseases [RCV002523513]|not provided [RCV000900257] |
Chr5:150077401 [GRCh38]
Chr5:149456964 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2217G>T (p.Glu739Asp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000302987] |
Chr5:150057508 [GRCh38]
Chr5:149437071 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*405G>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000318832] |
Chr5:150053664 [GRCh38]
Chr5:149433227 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_005211.4(CSF1R):c.-187G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000357654] |
Chr5:150113267 [GRCh38]
Chr5:149492830 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=) |
single nucleotide variant |
CSF1R-related disorder [RCV003970026]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000402541]|not provided [RCV000899955] |
Chr5:150070543 [GRCh38]
Chr5:149450106 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1404G>A (p.Val468=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000286861]|not provided [RCV002061268] |
Chr5:150069979 [GRCh38]
Chr5:149449542 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000338738]|not provided [RCV001579847] |
Chr5:150070475 [GRCh38]
Chr5:149450038 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2166C>T (p.Thr722=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000339191]|not provided [RCV002058520] |
Chr5:150057559 [GRCh38]
Chr5:149437122 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1520C>T (p.Thr507Met) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000381774]|not provided [RCV002520343] |
Chr5:150068321 [GRCh38]
Chr5:149447884 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2508C>T (p.Ser836=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000382166]|not provided [RCV002058517] |
Chr5:150056072 [GRCh38]
Chr5:149435635 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002488775]|CSF1R-related disorder [RCV003912502]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000404408]|not provided [RCV000899774] |
Chr5:150080882 [GRCh38]
Chr5:149460445 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2499G>A (p.Thr833=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000287774]|not provided [RCV002058518] |
Chr5:150056081 [GRCh38]
Chr5:149435644 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000320554]|Inborn genetic diseases [RCV002520345]|not provided [RCV000913539] |
Chr5:150080328 [GRCh38]
Chr5:149459891 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.*35C>T |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662317]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000360123]|not provided [RCV001636977] |
Chr5:150054034 [GRCh38]
Chr5:149433597 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.593-9C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000360223]|not provided [RCV000900536] |
Chr5:150078257 [GRCh38]
Chr5:149457820 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*36A>C |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662316]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000305450]|not provided [RCV001618634] |
Chr5:150054033 [GRCh38]
Chr5:149433596 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.*531C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000322128] |
Chr5:150053538 [GRCh38]
Chr5:149433101 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000306661] |
Chr5:150086415 [GRCh38]
Chr5:149465978 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1319+12C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000323194]|not provided [RCV005055921] |
Chr5:150070170 [GRCh38]
Chr5:149449733 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2258G>A (p.Arg753Gln) |
single nucleotide variant |
CSF1R-related disorder [RCV004751491]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000342657]|not provided [RCV002058519] |
Chr5:150057348 [GRCh38]
Chr5:149436911 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000363317]|not provided [RCV001850861] |
Chr5:150077432 [GRCh38]
Chr5:149456995 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.-25T>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000363553] |
Chr5:150086452 [GRCh38]
Chr5:149466015 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) |
single nucleotide variant |
CSF1R-related disorder [RCV003922551]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000385964]|not provided [RCV000974616]|not specified [RCV001795970] |
Chr5:150054376 [GRCh38]
Chr5:149433939 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000323908]|not provided [RCV000966972] |
Chr5:150078120 [GRCh38]
Chr5:149457683 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*231_*232insG |
insertion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000293565] |
Chr5:150053837..150053838 [GRCh38]
Chr5:149433400..149433401 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000308564]|not provided [RCV000946890] |
Chr5:150077432 [GRCh38]
Chr5:149456995 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.*604A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000325526] |
Chr5:150053465 [GRCh38]
Chr5:149433028 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*116C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000344888] |
Chr5:150053953 [GRCh38]
Chr5:149433516 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.*721_*724del |
deletion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000365395] |
Chr5:150053345..150053348 [GRCh38]
Chr5:149432908..149432911 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro) |
single nucleotide variant |
CSF1R-related disorder [RCV004751490]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000389397]|Inborn genetic diseases [RCV002520339]|not provided [RCV002520340] |
Chr5:150054323 [GRCh38]
Chr5:149433886 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001288705.3(CSF1R):c.178C>T (p.Leu60=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000293790]|not provided [RCV000970309] |
Chr5:150080896 [GRCh38]
Chr5:149460459 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000327207]|not provided [RCV000942553] |
Chr5:150068235 [GRCh38]
Chr5:149447798 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000346258]|not provided [RCV001513633] |
Chr5:150056045 [GRCh38]
Chr5:149435608 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) |
single nucleotide variant |
CSF1R-related disorder [RCV003902364]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000346339]|not provided [RCV000966352]|not specified [RCV001579719] |
Chr5:150080979 [GRCh38]
Chr5:150080979..150080980 [GRCh38]
Chr5:149460542 [GRCh37]
Chr5:149460542..149460543 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.1626+7C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000366714]|not provided [RCV001522247] |
Chr5:150068208 [GRCh38]
Chr5:149447771 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile) |
single nucleotide variant |
CSF1R-related disorder [RCV003957819]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000367035]|not provided [RCV000897858] |
Chr5:150077363 [GRCh38]
Chr5:149456926 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*769A>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000310853] |
Chr5:150053300 [GRCh38]
Chr5:149432863 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.225C>T (p.Thr75=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000296207]|not provided [RCV002520346] |
Chr5:150080849 [GRCh38]
Chr5:149460412 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*231C>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000348297] |
Chr5:150053838 [GRCh38]
Chr5:149433401 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000370032]|not provided [RCV002520341] |
Chr5:150061760 [GRCh38]
Chr5:149441323 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) |
single nucleotide variant |
CSF1R-related disorder [RCV003932443]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000312247]|not provided [RCV000888415]|not specified [RCV001796744] |
Chr5:150077330 [GRCh38]
Chr5:149456893 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1626+12C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000330525]|not provided [RCV001516465] |
Chr5:150068203 [GRCh38]
Chr5:149447766 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000371986]|not provided [RCV000889595] |
Chr5:150080806 [GRCh38]
Chr5:149460369 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) |
single nucleotide variant |
CSF1R-related disorder [RCV003957818]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000394491]|not provided [RCV000885737]|not specified [RCV002282125] |
Chr5:150077284 [GRCh38]
Chr5:149456847 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000331413]|not provided [RCV000973090] |
Chr5:150054325 [GRCh38]
Chr5:149433888 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000351143]|not provided [RCV000890096] |
Chr5:150080850 [GRCh38]
Chr5:149460413 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.*310C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000373433] |
Chr5:150053759 [GRCh38]
Chr5:149433322 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000395559]|not provided [RCV000901143] |
Chr5:150057367 [GRCh38]
Chr5:149436930 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2165C>A (p.Thr722Asn) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000395556] |
Chr5:150057560 [GRCh38]
Chr5:149437123 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001662319]|Hereditary diffuse leukoencephalopathy with spheroids [RCV000395882]|not provided [RCV001522249] |
Chr5:150080990 [GRCh38]
Chr5:149460553 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.-101G>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000395888] |
Chr5:150086528 [GRCh38]
Chr5:149466091 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.*232_*233dup |
duplication |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000387788] |
Chr5:150053835..150053836 [GRCh38]
Chr5:149433398..149433399 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_005211.4(CSF1R):c.-199G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000265354] |
Chr5:150113279 [GRCh38]
Chr5:149492842 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs) |
duplication |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000490465] |
Chr5:150054078..150054079 [GRCh38]
Chr5:149433641..149433642 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2345G>T (p.Arg782Leu) |
single nucleotide variant |
not provided [RCV000488391] |
Chr5:150056316 [GRCh38]
Chr5:149435879 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2622A>C (p.Gln874His) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000291372]|not provided [RCV004791425] |
Chr5:150055269 [GRCh38]
Chr5:149434832 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*561C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000361550] |
Chr5:150053508 [GRCh38]
Chr5:149433071 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1753+15C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000315377] |
Chr5:150061708 [GRCh38]
Chr5:149441271 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.-102C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000305256] |
Chr5:150086529 [GRCh38]
Chr5:149466092 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*156G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000308657] |
Chr5:150053913 [GRCh38]
Chr5:149433476 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.307+5G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000375204]|not provided [RCV001310530] |
Chr5:150080762 [GRCh38]
Chr5:149460325 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000377854] |
Chr5:150070195 [GRCh38]
Chr5:149449758 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.449G>A (p.Arg150His) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001153080]|not provided [RCV000584893] |
Chr5:150080195 [GRCh38]
Chr5:149459758 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_005211.4(CSF1R):c.-200C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151924] |
Chr5:150113280 [GRCh38]
Chr5:149492843 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile) |
single nucleotide variant |
not provided [RCV000415805] |
Chr5:150069963 [GRCh38]
Chr5:149449526 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly) |
single nucleotide variant |
CSF1R-related disorder [RCV003957891]|not provided [RCV000416171] |
Chr5:150055285 [GRCh38]
Chr5:149434848 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002521451]|Parkinsonian disorder [RCV000415068]|not provided [RCV005055952] |
Chr5:150078194 [GRCh38]
Chr5:149457757 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) |
single nucleotide variant |
Hematologic neoplasm [RCV000430977]|Myeloproliferative disorder [RCV000440400] |
Chr5:150061765 [GRCh38]
Chr5:149441328 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.902T>A (p.Leu301Ter) |
single nucleotide variant |
Neoplasm [RCV000434527] |
Chr5:150073481 [GRCh38]
Chr5:149453044 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.902T>C (p.Leu301Ser) |
single nucleotide variant |
Hematologic neoplasm [RCV000441113]|Neoplasm [RCV000424293] |
Chr5:150073481 [GRCh38]
Chr5:149453044 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.2907T>A (p.Tyr969Ter) |
single nucleotide variant |
Neoplasm [RCV000429439] |
Chr5:150054081 [GRCh38]
Chr5:149433644 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.903G>T (p.Leu301Phe) |
single nucleotide variant |
Hematologic neoplasm [RCV000432996] |
Chr5:150073480 [GRCh38]
Chr5:149453043 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2906A>G (p.Tyr969Cys) |
single nucleotide variant |
Hematologic neoplasm [RCV000440792]|Neoplasm [RCV000429697] |
Chr5:150054082 [GRCh38]
Chr5:149433645 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2907T>G (p.Tyr969Ter) |
single nucleotide variant |
Neoplasm [RCV000418290] |
Chr5:150054081 [GRCh38]
Chr5:149433644 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2906A>T (p.Tyr969Phe) |
single nucleotide variant |
Hematologic neoplasm [RCV000439671]|Neoplasm [RCV000419424] |
Chr5:150054082 [GRCh38]
Chr5:149433645 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2905T>C (p.Tyr969His) |
single nucleotide variant |
Hematologic neoplasm [RCV000434345]|Neoplasm [RCV000423228] |
Chr5:150054083 [GRCh38]
Chr5:149433646 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.2450T>A (p.Leu817Gln) |
single nucleotide variant |
not provided [RCV000479111] |
Chr5:150056130 [GRCh38]
Chr5:149435693 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2 |
pathogenic |
| NM_001288705.3(CSF1R):c.2873A>T (p.Asp958Val) |
single nucleotide variant |
not provided [RCV000497696] |
Chr5:150054115 [GRCh38]
Chr5:149433678 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| NM_001288705.3(CSF1R):c.1772G>C (p.Gly591Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003282438] |
Chr5:150061577 [GRCh38]
Chr5:149441140 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=) |
single nucleotide variant |
not provided [RCV000585523] |
Chr5:150073327 [GRCh38]
Chr5:149452890 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2460G>A (p.Lys820=) |
single nucleotide variant |
not provided [RCV002064300]|not specified [RCV000613310] |
Chr5:150056120 [GRCh38]
Chr5:149435683 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1672G>A (p.Gly558Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003242605] |
Chr5:150061804 [GRCh38]
Chr5:149441367 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1202C>T (p.Pro401Leu) |
single nucleotide variant |
not provided [RCV000512701] |
Chr5:150070299 [GRCh38]
Chr5:149449862 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157186]|Inborn genetic diseases [RCV002524968]|not provided [RCV000513367] |
Chr5:150054339 [GRCh38]
Chr5:149433902 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785985]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001849409]|Inborn genetic diseases [RCV000624615]|not provided [RCV001860422] |
Chr5:150069942 [GRCh38]
Chr5:149449505 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001808039] |
Chr5:150073314 [GRCh38]
Chr5:149452877 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.2671G>C (p.Ala891Pro) |
single nucleotide variant |
Alzheimer disease [RCV000736245] |
Chr5:150054414 [GRCh38]
Chr5:149433977 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2326C>T (p.His776Tyr) |
single nucleotide variant |
Alzheimer disease [RCV000736246] |
Chr5:150056335 [GRCh38]
Chr5:149435898 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) |
indel |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000754617] |
Chr5:150056050..150056053 [GRCh38]
Chr5:149435613..149435616 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2762G>A (p.Arg921Gln) |
single nucleotide variant |
not provided [RCV000893554] |
Chr5:150054323 [GRCh38]
Chr5:149433886 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) |
single nucleotide variant |
CSF1R-related disorder [RCV003401656]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001724744]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002290740]|not provided [RCV002539735] |
Chr5:150056317 [GRCh38]
Chr5:149435880 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.889+68G>T |
single nucleotide variant |
not provided [RCV001647786] |
Chr5:150077208 [GRCh38]
Chr5:149456771 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1969+182C>T |
single nucleotide variant |
not provided [RCV001611925] |
Chr5:150060680 [GRCh38]
Chr5:149440243 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1858+203A>G |
single nucleotide variant |
not provided [RCV001690706] |
Chr5:150061288 [GRCh38]
Chr5:149440851 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.307+154C>T |
single nucleotide variant |
not provided [RCV001612036] |
Chr5:150080613 [GRCh38]
Chr5:149460176 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1970-69G>T |
single nucleotide variant |
not provided [RCV001690830] |
Chr5:150059931 [GRCh38]
Chr5:149439494 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1754-3C>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001706768] |
Chr5:150061598 [GRCh38]
Chr5:149441161 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.457A>C (p.Asn153His) |
single nucleotide variant |
not provided [RCV000916622] |
Chr5:150080187 [GRCh38]
Chr5:149459750 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2829G>A (p.Glu943=) |
single nucleotide variant |
not provided [RCV000894164] |
Chr5:150054159 [GRCh38]
Chr5:149433722 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2304C>A (p.Phe768Leu) |
single nucleotide variant |
not provided [RCV000762177] |
Chr5:150057302 [GRCh38]
Chr5:149436865 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2165_2166delinsAT (p.Thr722Asn) |
indel |
not provided [RCV001963975] |
Chr5:150057559..150057560 [GRCh38]
Chr5:149437122..149437123 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2240G>T (p.Gly747Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004030068]|not provided [RCV000982432] |
Chr5:150057366 [GRCh38]
Chr5:149436929 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1760C>T (p.Thr587Ile) |
single nucleotide variant |
not provided [RCV000923549] |
Chr5:150061589 [GRCh38]
Chr5:149441152 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) |
single nucleotide variant |
CSF1R-related disorder [RCV003960437]|not provided [RCV000925151] |
Chr5:150080276 [GRCh38]
Chr5:149459839 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2658C>T (p.Tyr886=) |
single nucleotide variant |
not provided [RCV000927033] |
Chr5:150054427 [GRCh38]
Chr5:149433990 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.417G>A (p.Ser139=) |
single nucleotide variant |
not provided [RCV000946891] |
Chr5:150080227 [GRCh38]
Chr5:149459790 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2537G>C (p.Trp846Ser) |
single nucleotide variant |
not provided [RCV001048634] |
Chr5:150056043 [GRCh38]
Chr5:149435606 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.42T>G (p.Ala14=) |
single nucleotide variant |
not provided [RCV000938870] |
Chr5:150086386 [GRCh38]
Chr5:149465949 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.456C>T (p.Thr152=) |
single nucleotide variant |
not provided [RCV000937797] |
Chr5:150080188 [GRCh38]
Chr5:149459751 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.219C>T (p.Asn73=) |
single nucleotide variant |
not provided [RCV000976748] |
Chr5:150080855 [GRCh38]
Chr5:149460418 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) |
single nucleotide variant |
not provided [RCV000915953] |
Chr5:150061550 [GRCh38]
Chr5:149441113 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.483C>G (p.Gly161=) |
single nucleotide variant |
not provided [RCV000979290] |
Chr5:150080161 [GRCh38]
Chr5:149459724 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2349C>T (p.Asn783=) |
single nucleotide variant |
not provided [RCV000943162] |
Chr5:150056312 [GRCh38]
Chr5:149435875 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004333264]|not provided [RCV003313463] |
Chr5:150080157 [GRCh38]
Chr5:149459720 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.1238G>T (p.Gly413Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004333265]|not provided [RCV003313464] |
Chr5:150070263 [GRCh38]
Chr5:149449826 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp) |
single nucleotide variant |
not provided [RCV000998469] |
Chr5:150056286 [GRCh38]
Chr5:149435849 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.1969+115_1969+116del |
deletion |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785988]|not provided [RCV003329339] |
Chr5:150060746..150060747 [GRCh38]
Chr5:149440309..149440310 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001288705.3(CSF1R):c.1754-1G>C |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785989] |
Chr5:150061596 [GRCh38]
Chr5:149441159 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1796C>T (p.Ala599Val) |
single nucleotide variant |
not provided [RCV000998470] |
Chr5:150061553 [GRCh38]
Chr5:149441116 [GRCh37]
Chr5:5q32 |
uncertain significance |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785984]|not provided [RCV003727825] |
Chr5:150080249 [GRCh38]
Chr5:149459812 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785990]|not provided [RCV003117575] |
Chr5:150060902 [GRCh38]
Chr5:149440465 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.*233C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151624] |
Chr5:150053836 [GRCh38]
Chr5:149433399 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*232C>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151625] |
Chr5:150053837 [GRCh38]
Chr5:149433400 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*221C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151627] |
Chr5:150053848 [GRCh38]
Chr5:149433411 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.658G>A (p.Ala220Thr) |
single nucleotide variant |
not provided [RCV001090378] |
Chr5:150078183 [GRCh38]
Chr5:149457746 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1859-119G>A |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV000785986]|not specified [RCV002469289] |
Chr5:150061091 [GRCh38]
Chr5:149440654 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys) |
single nucleotide variant |
not provided [RCV001090377] |
Chr5:150070522 [GRCh38]
Chr5:149450085 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.1402G>T (p.Val468Leu) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196009]|not provided [RCV001876271] |
Chr5:150069981 [GRCh38]
Chr5:149449544 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2916C>G (p.Cys972Trp) |
single nucleotide variant |
See cases [RCV001197110] |
Chr5:150054072 [GRCh38]
Chr5:149433635 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001249778]|not provided [RCV001751515] |
Chr5:150080147 [GRCh38]
Chr5:149459710 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1990G>A (p.Glu664Lys) |
single nucleotide variant |
not provided [RCV003313561] |
Chr5:150059842 [GRCh38]
Chr5:149439405 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys) |
single nucleotide variant |
Frontotemporal dementia [RCV001090101]|not provided [RCV003558660] |
Chr5:150054386 [GRCh38]
Chr5:149433949 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2210T>C (p.Phe737Ser) |
single nucleotide variant |
not provided [RCV001090376] |
Chr5:150057515 [GRCh38]
Chr5:149437078 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*733G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155388] |
Chr5:150053336 [GRCh38]
Chr5:149432899 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*230C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151626] |
Chr5:150053839 [GRCh38]
Chr5:149433402 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.299A>G (p.Tyr100Cys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155700] |
Chr5:150080775 [GRCh38]
Chr5:149460338 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2797G>A (p.Gly933Ser) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005036655]|not provided [RCV003105004] |
Chr5:150054191 [GRCh38]
Chr5:149433754 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2133-35G>C |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001658349]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001658348]|not provided [RCV001639337] |
Chr5:150057627 [GRCh38]
Chr5:149437190 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1970-163A>G |
single nucleotide variant |
not provided [RCV001643246] |
Chr5:150060025 [GRCh38]
Chr5:149439588 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2242C>T (p.Arg748Trp) |
single nucleotide variant |
not provided [RCV003107012] |
Chr5:150057364 [GRCh38]
Chr5:149436927 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2863G>A (p.Glu955Lys) |
single nucleotide variant |
not provided [RCV003107064] |
Chr5:150054125 [GRCh38]
Chr5:149433688 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1969+311G>A |
single nucleotide variant |
not provided [RCV001648443] |
Chr5:150060551 [GRCh38]
Chr5:149440114 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1859-188C>T |
single nucleotide variant |
not provided [RCV001649741] |
Chr5:150061160 [GRCh38]
Chr5:149440723 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1626+150T>C |
single nucleotide variant |
not provided [RCV001676345] |
Chr5:150068065 [GRCh38]
Chr5:149447628 [GRCh37]
Chr5:5q32 |
benign |
| NM_005211.4(CSF1R):c.-180-145G>C |
single nucleotide variant |
not provided [RCV001656938] |
Chr5:150086752 [GRCh38]
Chr5:149466315 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) |
single nucleotide variant |
not provided [RCV000886570] |
Chr5:150054147 [GRCh38]
Chr5:149433710 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1515C>T (p.Ala505=) |
single nucleotide variant |
not provided [RCV000900691] |
Chr5:150068326 [GRCh38]
Chr5:149447889 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met) |
single nucleotide variant |
CSF1R-related disorder [RCV003948340]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001155614]|not provided [RCV000883769] |
Chr5:150068289 [GRCh38]
Chr5:149447852 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.348C>T (p.Val116=) |
single nucleotide variant |
not provided [RCV000982221] |
Chr5:150080296 [GRCh38]
Chr5:149459859 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2136C>T (p.Asp712=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151727] |
Chr5:150057589 [GRCh38]
Chr5:149437152 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1587G>A (p.Leu529=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155612]|not provided [RCV002557329] |
Chr5:150068254 [GRCh38]
Chr5:149447817 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1518C>T (p.His506=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155615] |
Chr5:150068323 [GRCh38]
Chr5:149447886 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157187]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004789408]|not provided [RCV002032454] |
Chr5:150055288 [GRCh38]
Chr5:149434851 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1216G>A (p.Val406Ile) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157284]|Inborn genetic diseases [RCV004978068]|not provided [RCV003769752] |
Chr5:150070285 [GRCh38]
Chr5:149449848 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2082G>A (p.Glu694=) |
single nucleotide variant |
CSF1R-related disorder [RCV003902885]|not provided [RCV000911068] |
Chr5:150059750 [GRCh38]
Chr5:149439313 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1753+7T>C |
single nucleotide variant |
not provided [RCV000934958] |
Chr5:150061716 [GRCh38]
Chr5:149441279 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1199-6C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002544494]|not provided [RCV000935369] |
Chr5:150070308 [GRCh38]
Chr5:149449871 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2664C>A (p.Ile888=) |
single nucleotide variant |
not provided [RCV000935135] |
Chr5:150054421 [GRCh38]
Chr5:149433984 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2222-3T>C |
single nucleotide variant |
not provided [RCV001579509] |
Chr5:150057387 [GRCh38]
Chr5:149436950 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.601G>C (p.Gly201Arg) |
single nucleotide variant |
not provided [RCV001562456] |
Chr5:150078240 [GRCh38]
Chr5:149457803 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV000987617] |
Chr5:150056049 [GRCh38]
Chr5:149435612 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.889+28C>T |
single nucleotide variant |
not provided [RCV001636456] |
Chr5:150077248 [GRCh38]
Chr5:149456811 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1859-204T>C |
single nucleotide variant |
not provided [RCV001687344] |
Chr5:150061176 [GRCh38]
Chr5:149440739 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1969+91C>T |
single nucleotide variant |
not provided [RCV001597607] |
Chr5:150060771 [GRCh38]
Chr5:149440334 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1858+37del |
deletion |
not provided [RCV001696269] |
Chr5:150061454 [GRCh38]
Chr5:149441017 [GRCh37]
Chr5:5q32 |
benign |
| NM_005211.4(CSF1R):c.-180-119A>G |
single nucleotide variant |
not provided [RCV001677456] |
Chr5:150086726 [GRCh38]
Chr5:149466289 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1859-109G>A |
single nucleotide variant |
not provided [RCV001595444] |
Chr5:150061081 [GRCh38]
Chr5:149440644 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.50-214G>A |
single nucleotide variant |
not provided [RCV001653351] |
Chr5:150081238 [GRCh38]
Chr5:149460801 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2133-160G>A |
single nucleotide variant |
not provided [RCV001595738] |
Chr5:150057752 [GRCh38]
Chr5:149437315 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.889+67A>T |
single nucleotide variant |
not provided [RCV001598833] |
Chr5:150077209 [GRCh38]
Chr5:149456772 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1969+264C>T |
single nucleotide variant |
not provided [RCV001678301] |
Chr5:150060598 [GRCh38]
Chr5:149440161 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.592+54C>G |
single nucleotide variant |
not provided [RCV001638456] |
Chr5:150079998 [GRCh38]
Chr5:149459561 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1511-167C>T |
single nucleotide variant |
not provided [RCV001613931] |
Chr5:150068497 [GRCh38]
Chr5:149448060 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.*619G>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155389] |
Chr5:150053450 [GRCh38]
Chr5:149433013 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*263G>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157075] |
Chr5:150053806 [GRCh38]
Chr5:149433369 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.195C>T (p.Ser65=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157390] |
Chr5:150080879 [GRCh38]
Chr5:149460442 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.49+14G>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157391]|not provided [RCV002558374] |
Chr5:150086365 [GRCh38]
Chr5:149465928 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) |
deletion |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001253191]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003992481] |
Chr5:150054363..150054365 [GRCh38]
Chr5:149433926..149433928 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.-115C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151923] |
Chr5:150086542 [GRCh38]
Chr5:149466105 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001153078] |
Chr5:150078121 [GRCh38]
Chr5:149457684 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001153079] |
Chr5:150078200 [GRCh38]
Chr5:149457763 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.*749C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155387] |
Chr5:150053320 [GRCh38]
Chr5:149432883 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg) |
single nucleotide variant |
not provided [RCV001171968] |
Chr5:150056109 [GRCh38]
Chr5:149435672 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.*5T>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001154674] |
Chr5:150054064 [GRCh38]
Chr5:149433627 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*532G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155390] |
Chr5:150053537 [GRCh38]
Chr5:149433100 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
CSF1R-related disorder [RCV003953537]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001151837]|not provided [RCV001858996] |
Chr5:150073488 [GRCh38]
Chr5:149453051 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2442+23C>T |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001661315]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001661314]|not provided [RCV001713673] |
Chr5:150056196 [GRCh38]
Chr5:149435759 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.592+41G>A |
single nucleotide variant |
not provided [RCV001650813] |
Chr5:150080011 [GRCh38]
Chr5:149459574 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1970-33A>C |
single nucleotide variant |
not provided [RCV001645959] |
Chr5:150059895 [GRCh38]
Chr5:149439458 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2654+116A>C |
single nucleotide variant |
not provided [RCV001667118] |
Chr5:150055121 [GRCh38]
Chr5:149434684 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1082+71G>A |
single nucleotide variant |
not provided [RCV001714133] |
Chr5:150073230 [GRCh38]
Chr5:149452793 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1859-242C>T |
single nucleotide variant |
not provided [RCV001690197] |
Chr5:150061214 [GRCh38]
Chr5:149440777 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.49+51A>G |
single nucleotide variant |
not provided [RCV001611388] |
Chr5:150086328 [GRCh38]
Chr5:149465891 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2319+164A>C |
single nucleotide variant |
not provided [RCV001685641] |
Chr5:150057123 [GRCh38]
Chr5:149436686 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His) |
single nucleotide variant |
CSF1R-related disorder [RCV003425953]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001151728]|not provided [RCV002557274] |
Chr5:150059703 [GRCh38]
Chr5:149439266 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.349G>A (p.Val117Met) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001196349]|not provided [RCV003480985] |
Chr5:150080295 [GRCh38]
Chr5:149459858 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.943G>A (p.Val315Met) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001151836]|Inborn genetic diseases [RCV002557278]|not provided [RCV001858995] |
Chr5:150073440 [GRCh38]
Chr5:149453003 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) |
single nucleotide variant |
CSF1R-related disorder [RCV004751942]|Hereditary diffuse leukoencephalopathy with spheroids [RCV001249332]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003152755]|not provided [RCV001577379] |
Chr5:150061584 [GRCh38]
Chr5:149441147 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic|not provided |
| NM_001288705.3(CSF1R):c.*530C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157074] |
Chr5:150053539 [GRCh38]
Chr5:149433102 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157283]|not provided [RCV002557343] |
Chr5:150070281 [GRCh38]
Chr5:149449844 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.*56G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001154673] |
Chr5:150054013 [GRCh38]
Chr5:149433576 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1728G>A (p.Glu576=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001152969]|not provided [RCV003546660] |
Chr5:150061748 [GRCh38]
Chr5:149441311 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.354C>T (p.Phe118=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001153081] |
Chr5:150080290 [GRCh38]
Chr5:149459853 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001153082] |
Chr5:150080307 [GRCh38]
Chr5:149459870 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2763+7G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155504] |
Chr5:150054315 [GRCh38]
Chr5:149433878 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*768T>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001154548] |
Chr5:150053301 [GRCh38]
Chr5:149432864 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155613]|not provided [RCV002070911] |
Chr5:150068281 [GRCh38]
Chr5:149447844 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.-2C>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001157392] |
Chr5:150086429 [GRCh38]
Chr5:149465992 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*101T>C |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001154672]|not provided [RCV004694974] |
Chr5:150053968 [GRCh38]
Chr5:149433531 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.*35_*36delinsTC |
indel |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001253216] |
Chr5:150054033..150054034 [GRCh38]
Chr5:149433596..149433597 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2517G>T (p.Trp839Cys) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001253704] |
Chr5:150056063 [GRCh38]
Chr5:149435626 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) |
copy number gain |
Hunter-McAlpine craniosynostosis [RCV002280612] |
Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.1969+1G>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001257140] |
Chr5:150060861 [GRCh38]
Chr5:149440424 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001261535]|Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003393930] |
Chr5:150061577 [GRCh38]
Chr5:149441140 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001808002] |
Chr5:150060933 [GRCh38]
Chr5:149440496 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1198+19C>A |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001333367] |
Chr5:150070437 [GRCh38]
Chr5:149450000 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2554+3G>A |
single nucleotide variant |
CSF1R-related disorder [RCV003931220]|not provided [RCV001579742] |
Chr5:150056023 [GRCh38]
Chr5:149435586 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002293254] |
Chr5:150061827 [GRCh38]
Chr5:149441390 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1930G>A (p.Glu644Lys) |
single nucleotide variant |
not provided [RCV001372166] |
Chr5:150060901 [GRCh38]
Chr5:149440464 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV001331371] |
Chr5:150068221 [GRCh38]
Chr5:149447784 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1700C>T (p.Thr567Met) |
single nucleotide variant |
not provided [RCV001367470] |
Chr5:150061776 [GRCh38]
Chr5:149441339 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1974T>C (p.Pro658=) |
single nucleotide variant |
not provided [RCV001310529] |
Chr5:150059858 [GRCh38]
Chr5:149439421 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.945G>A (p.Val315=) |
single nucleotide variant |
not provided [RCV001486985] |
Chr5:150073438 [GRCh38]
Chr5:149453001 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.593-13C>T |
single nucleotide variant |
not provided [RCV001442961] |
Chr5:150078261 [GRCh38]
Chr5:149457824 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1083-124C>T |
single nucleotide variant |
not provided [RCV001685872] |
Chr5:150070695 [GRCh38]
Chr5:149450258 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.93C>T (p.Val31=) |
single nucleotide variant |
not provided [RCV001515107] |
Chr5:150080981 [GRCh38]
Chr5:149460544 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.729+182T>C |
single nucleotide variant |
not provided [RCV001696350] |
Chr5:150077930 [GRCh38]
Chr5:149457493 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) |
single nucleotide variant |
CSF1R-related disorder [RCV003966225]|not provided [RCV001579959] |
Chr5:150060918 [GRCh38]
Chr5:149440481 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2763+28G>C |
single nucleotide variant |
not provided [RCV001674983] |
Chr5:150054294 [GRCh38]
Chr5:149433857 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.593-19G>A |
single nucleotide variant |
not provided [RCV001519581] |
Chr5:150078267 [GRCh38]
Chr5:149457830 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1872T>G (p.Ala624=) |
single nucleotide variant |
not provided [RCV001521499] |
Chr5:150060959 [GRCh38]
Chr5:149440522 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV002247770] |
Chr5:150077276 [GRCh38]
Chr5:149456839 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001728045]|not provided [RCV002539778] |
Chr5:150055328 [GRCh38]
Chr5:149434891 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2343G>A (p.Ala781=) |
single nucleotide variant |
CSF1R-related disorder [RCV003900939]|not provided [RCV003105097] |
Chr5:150056318 [GRCh38]
Chr5:149435881 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.2026C>T (p.Arg676Ter) |
single nucleotide variant |
not provided [RCV001780583] |
Chr5:150059806 [GRCh38]
Chr5:149439369 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.840del (p.Ser281fs) |
deletion |
not provided [RCV001780884] |
Chr5:150077325 [GRCh38]
Chr5:149456888 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2485G>C (p.Asp829His) |
single nucleotide variant |
not provided [RCV001767365] |
Chr5:150056095 [GRCh38]
Chr5:149435658 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.92T>A (p.Val31Asp) |
single nucleotide variant |
not provided [RCV001767213] |
Chr5:150080982 [GRCh38]
Chr5:149460545 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2567A>C (p.Tyr856Ser) |
single nucleotide variant |
not provided [RCV001772800] |
Chr5:150055324 [GRCh38]
Chr5:149434887 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2912T>A (p.Phe971Tyr) |
single nucleotide variant |
not provided [RCV001772999] |
Chr5:150054076 [GRCh38]
Chr5:149433639 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003989027] |
Chr5:150077337 [GRCh38]
Chr5:149456900 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.631G>A (p.Glu211Lys) |
single nucleotide variant |
not provided [RCV001765651] |
Chr5:150078210 [GRCh38]
Chr5:149457773 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.716ACA[2] (p.Asn241del) |
microsatellite |
not provided [RCV001756964] |
Chr5:150078117..150078119 [GRCh38]
Chr5:149457680..149457682 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1939_1941del (p.Val647del) |
deletion |
not provided [RCV001816409] |
Chr5:150060890..150060892 [GRCh38]
Chr5:149440453..149440455 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2654+12G>T |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001795607]|not provided [RCV001885225] |
Chr5:150055225 [GRCh38]
Chr5:149434788 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.819C>T (p.Ala273=) |
single nucleotide variant |
CSF1R-related disorder [RCV003913379]|not provided [RCV001795672] |
Chr5:150077346 [GRCh38]
Chr5:149456909 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1626+13G>A |
single nucleotide variant |
not provided [RCV001795677] |
Chr5:150068202 [GRCh38]
Chr5:149447765 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1510+16C>T |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002478026]|not provided [RCV001795679] |
Chr5:150069857 [GRCh38]
Chr5:149449420 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004040850]|not provided [RCV001795700] |
Chr5:150078137 [GRCh38]
Chr5:149457700 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2677T>C (p.Trp893Arg) |
single nucleotide variant |
not provided [RCV001758206] |
Chr5:150054408 [GRCh38]
Chr5:149433971 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2442+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004611880]|not provided [RCV001804187] |
Chr5:150056214 [GRCh38]
Chr5:149435777 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1584GCT[6] (p.Leu537_Tyr538insLeu) |
microsatellite |
not specified [RCV004800068] |
Chr5:150068242..150068243 [GRCh38]
Chr5:149447805..149447806 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1865C>T (p.Ala622Val) |
single nucleotide variant |
not provided [RCV001929716] |
Chr5:150060966 [GRCh38]
Chr5:149440529 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2539G>C (p.Glu847Gln) |
single nucleotide variant |
not provided [RCV002025919] |
Chr5:150056041 [GRCh38]
Chr5:149435604 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001837352] |
Chr5:150080234 [GRCh38]
Chr5:149459797 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1795G>C (p.Ala599Pro) |
single nucleotide variant |
not provided [RCV002040583] |
Chr5:150061554 [GRCh38]
Chr5:149441117 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002484551]|not provided [RCV001914442] |
Chr5:150059759 [GRCh38]
Chr5:149439322 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.592+3G>A |
single nucleotide variant |
not provided [RCV002008598] |
Chr5:150080049 [GRCh38]
Chr5:149459612 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1510+5G>C |
single nucleotide variant |
not provided [RCV002008954] |
Chr5:150069868 [GRCh38]
Chr5:149449431 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.946G>C (p.Gly316Arg) |
single nucleotide variant |
not provided [RCV001987257] |
Chr5:150073437 [GRCh38]
Chr5:149453000 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1083-18C>G |
single nucleotide variant |
not provided [RCV001929802] |
Chr5:150070589 [GRCh38]
Chr5:149450152 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.49+16G>T |
single nucleotide variant |
not provided [RCV001970720] |
Chr5:150086363 [GRCh38]
Chr5:149465926 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2539G>A (p.Glu847Lys) |
single nucleotide variant |
not provided [RCV001949461] |
Chr5:150056041 [GRCh38]
Chr5:149435604 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.344T>C (p.Val115Ala) |
single nucleotide variant |
not provided [RCV002044660] |
Chr5:150080300 [GRCh38]
Chr5:149459863 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.200G>A (p.Ser67Asn) |
single nucleotide variant |
CSF1R-related disorder [RCV004752122]|not provided [RCV002003354] |
Chr5:150080874 [GRCh38]
Chr5:149460437 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2007C>T (p.Gly669=) |
single nucleotide variant |
CSF1R-related disorder [RCV003893031]|not provided [RCV001969189] |
Chr5:150059825 [GRCh38]
Chr5:149439388 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) |
single nucleotide variant |
CSF1R-related disorder [RCV003416498]|not provided [RCV002039941] |
Chr5:150056269 [GRCh38]
Chr5:149435832 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1729T>A (p.Phe577Ile) |
single nucleotide variant |
not provided [RCV001910670] |
Chr5:150061747 [GRCh38]
Chr5:149441310 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1859C>T (p.Ser620Phe) |
single nucleotide variant |
not provided [RCV001890181] |
Chr5:150060972 [GRCh38]
Chr5:149440535 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1561G>A (p.Ala521Thr) |
single nucleotide variant |
not provided [RCV001871364] |
Chr5:150068280 [GRCh38]
Chr5:149447843 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.356A>G (p.Glu119Gly) |
single nucleotide variant |
not provided [RCV001984187] |
Chr5:150080288 [GRCh38]
Chr5:149459851 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1541T>A (p.Leu514His) |
single nucleotide variant |
not provided [RCV001893936] |
Chr5:150068300 [GRCh38]
Chr5:149447863 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.448C>T (p.Arg150Cys) |
single nucleotide variant |
not provided [RCV002043555] |
Chr5:150080196 [GRCh38]
Chr5:149459759 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.807T>A (p.Asp269Glu) |
single nucleotide variant |
not provided [RCV001945342] |
Chr5:150077358 [GRCh38]
Chr5:149456921 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002468654]|not provided [RCV002040804] |
Chr5:150060870 [GRCh38]
Chr5:149440433 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.431G>A (p.Arg144His) |
single nucleotide variant |
not provided [RCV001872238] |
Chr5:150080213 [GRCh38]
Chr5:149459776 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.248G>A (p.Arg83His) |
single nucleotide variant |
not provided [RCV001912221] |
Chr5:150080826 [GRCh38]
Chr5:149460389 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del) |
deletion |
not provided [RCV002021046] |
Chr5:150054183..150054203 [GRCh38]
Chr5:149433746..149433766 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1488G>T (p.Trp496Cys) |
single nucleotide variant |
not provided [RCV001965920] |
Chr5:150069895 [GRCh38]
Chr5:149449458 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001823037] |
Chr5:150056113 [GRCh38]
Chr5:149435676 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001823563] |
Chr5:150055321 [GRCh38]
Chr5:149434884 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1749G>T (p.Gln583His) |
single nucleotide variant |
not provided [RCV001916420] |
Chr5:150061727 [GRCh38]
Chr5:149441290 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.238G>T (p.Gly80Trp) |
single nucleotide variant |
not provided [RCV002038874] |
Chr5:150080836 [GRCh38]
Chr5:149460399 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1330G>A (p.Ala444Thr) |
single nucleotide variant |
not provided [RCV001993867] |
Chr5:150070053 [GRCh38]
Chr5:149449616 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2627C>A (p.Ala876Asp) |
single nucleotide variant |
not provided [RCV001980860] |
Chr5:150055264 [GRCh38]
Chr5:149434827 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1084C>T (p.His362Tyr) |
single nucleotide variant |
not provided [RCV002038107] |
Chr5:150070570 [GRCh38]
Chr5:149450133 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2808CAG[2] (p.Ser939_Ser940del) |
microsatellite |
not provided [RCV002000578] |
Chr5:150054169..150054174 [GRCh38]
Chr5:149433732..149433737 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.871A>G (p.Met291Val) |
single nucleotide variant |
not provided [RCV001888247] |
Chr5:150077294 [GRCh38]
Chr5:149456857 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2210_2212del (p.Phe737del) |
deletion |
not provided [RCV001943406] |
Chr5:150057513..150057515 [GRCh38]
Chr5:149437076..149437078 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1399A>G (p.Thr467Ala) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555627]|not provided [RCV001898608] |
Chr5:150069984 [GRCh38]
Chr5:149449547 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1084_1085inv (p.His362Cys) |
inversion |
not provided [RCV001865065] |
Chr5:150070569..150070570 [GRCh38]
Chr5:149450132..149450133 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.629C>A (p.Ala210Glu) |
single nucleotide variant |
not provided [RCV001937909] |
Chr5:150078212 [GRCh38]
Chr5:149457775 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1555G>C (p.Val519Leu) |
single nucleotide variant |
not provided [RCV001943545] |
Chr5:150068286 [GRCh38]
Chr5:149447849 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001288705.3(CSF1R):c.730-5T>G |
single nucleotide variant |
not provided [RCV001998390] |
Chr5:150077440 [GRCh38]
Chr5:149457003 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.880C>T (p.Arg294Trp) |
single nucleotide variant |
not provided [RCV002035805] |
Chr5:150077285 [GRCh38]
Chr5:149456848 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.643A>G (p.Ile215Val) |
single nucleotide variant |
not provided [RCV001925947] |
Chr5:150078198 [GRCh38]
Chr5:149457761 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2806_2814dup (p.Gly936_Ser938dup) |
duplication |
not provided [RCV001940538] |
Chr5:150054173..150054174 [GRCh38]
Chr5:149433736..149433737 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.158C>T (p.Pro53Leu) |
single nucleotide variant |
not provided [RCV001899056] |
Chr5:150080916 [GRCh38]
Chr5:149460479 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2615G>T (p.Gly872Val) |
single nucleotide variant |
not provided [RCV001975485] |
Chr5:150055276 [GRCh38]
Chr5:149434839 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2800GGCAGC[3] (p.934GS[3]) |
microsatellite |
not provided [RCV001937620] |
Chr5:150054176..150054177 [GRCh38]
Chr5:149433739..149433740 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.592+4C>T |
single nucleotide variant |
not provided [RCV001996323] |
Chr5:150080048 [GRCh38]
Chr5:149459611 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2180G>A (p.Arg727Lys) |
single nucleotide variant |
not provided [RCV002049458] |
Chr5:150057545 [GRCh38]
Chr5:149437108 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1662G>T (p.Glu554Asp) |
single nucleotide variant |
not provided [RCV002013109] |
Chr5:150061814 [GRCh38]
Chr5:149441377 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.253A>T (p.Thr85Ser) |
single nucleotide variant |
not provided [RCV001952165] |
Chr5:150080821 [GRCh38]
Chr5:149460384 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2137A>G (p.Ser713Gly) |
single nucleotide variant |
not provided [RCV001901122] |
Chr5:150057588 [GRCh38]
Chr5:149437151 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1126G>A (p.Ala376Thr) |
single nucleotide variant |
not provided [RCV001917064] |
Chr5:150070528 [GRCh38]
Chr5:149450091 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2843G>C (p.Ser948Thr) |
single nucleotide variant |
not provided [RCV001973328] |
Chr5:150054145 [GRCh38]
Chr5:149433708 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.550A>G (p.Arg184Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004039576]|not provided [RCV001870039] |
Chr5:150080094 [GRCh38]
Chr5:149459657 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.412G>A (p.Val138Ile) |
single nucleotide variant |
not provided [RCV001973684] |
Chr5:150080232 [GRCh38]
Chr5:149459795 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1645C>T (p.Arg549Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002579587]|not provided [RCV001996016] |
Chr5:150061831 [GRCh38]
Chr5:149441394 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys) |
single nucleotide variant |
CSF1R-related disorder [RCV003395282]|not provided [RCV001933289] |
Chr5:150073459 [GRCh38]
Chr5:149453022 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.196A>G (p.Ser66Gly) |
single nucleotide variant |
not provided [RCV002030265] |
Chr5:150080878 [GRCh38]
Chr5:149460441 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1284C>A (p.Asn428Lys) |
single nucleotide variant |
not provided [RCV002050206] |
Chr5:150070217 [GRCh38]
Chr5:149449780 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2392G>C (p.Gly798Arg) |
single nucleotide variant |
not provided [RCV001877122] |
Chr5:150056269 [GRCh38]
Chr5:149435832 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2092G>A (p.Asp698Asn) |
single nucleotide variant |
not provided [RCV001981710] |
Chr5:150059740 [GRCh38]
Chr5:149439303 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1876G>T (p.Glu626Ter) |
single nucleotide variant |
not provided [RCV001999002] |
Chr5:150060955 [GRCh38]
Chr5:149440518 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.161dup (p.Ser55fs) |
duplication |
not provided [RCV001876787] |
Chr5:150080912..150080913 [GRCh38]
Chr5:149460475..149460476 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.331C>A (p.Leu111Ile) |
single nucleotide variant |
not provided [RCV002036395] |
Chr5:150080313 [GRCh38]
Chr5:149459876 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2827GAG[2] (p.Glu945del) |
microsatellite |
not provided [RCV001866646] |
Chr5:150054153..150054155 [GRCh38]
Chr5:149433716..149433718 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.575G>A (p.Arg192Gln) |
single nucleotide variant |
not provided [RCV001955191] |
Chr5:150080069 [GRCh38]
Chr5:149459632 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1100_1103del (p.Ser367fs) |
microsatellite |
not provided [RCV001980410] |
Chr5:150070551..150070554 [GRCh38]
Chr5:149450114..149450117 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1276del (p.Gln426fs) |
deletion |
not provided [RCV001981628] |
Chr5:150070225 [GRCh38]
Chr5:149449788 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2442+2dup |
duplication |
CSF1R-Related Adult-Onset Leukoencephalopathy [RCV003492704]|not provided [RCV001974459] |
Chr5:150056216..150056217 [GRCh38]
Chr5:149435779..149435780 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2370_2377del (p.His790fs) |
deletion |
not provided [RCV002012996] |
Chr5:150056284..150056291 [GRCh38]
Chr5:149435847..149435854 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.1484C>T (p.Ser495Phe) |
single nucleotide variant |
not provided [RCV002015870] |
Chr5:150069899 [GRCh38]
Chr5:149449462 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.307+3G>T |
single nucleotide variant |
not provided [RCV002017511] |
Chr5:150080764 [GRCh38]
Chr5:149460327 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2174A>G (p.Glu725Gly) |
single nucleotide variant |
not provided [RCV001883700] |
Chr5:150057551 [GRCh38]
Chr5:149437114 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.158C>A (p.Pro53His) |
single nucleotide variant |
not provided [RCV001902413] |
Chr5:150080916 [GRCh38]
Chr5:149460479 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002497904]|not provided [RCV001959331] |
Chr5:150078185 [GRCh38]
Chr5:149457748 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.948G>T (p.Gly316=) |
single nucleotide variant |
not provided [RCV001981778] |
Chr5:150073435 [GRCh38]
Chr5:149452998 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.358G>A (p.Asp120Asn) |
single nucleotide variant |
not provided [RCV001924290] |
Chr5:150080286 [GRCh38]
Chr5:149459849 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2363A>G (p.Asn788Ser) |
single nucleotide variant |
not provided [RCV001907030] |
Chr5:150056298 [GRCh38]
Chr5:149435861 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1480G>A (p.Gly494Ser) |
single nucleotide variant |
not provided [RCV001886280] |
Chr5:150069903 [GRCh38]
Chr5:149449466 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.533G>A (p.Ser178Asn) |
single nucleotide variant |
not provided [RCV002028845] |
Chr5:150080111 [GRCh38]
Chr5:149459674 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1283A>G (p.Asn428Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002642187]|not provided [RCV002029046] |
Chr5:150070218 [GRCh38]
Chr5:149449781 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2188T>C (p.Ser730Pro) |
single nucleotide variant |
not provided [RCV001878263] |
Chr5:150057537 [GRCh38]
Chr5:149437100 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.187G>C (p.Asp63His) |
single nucleotide variant |
Inborn genetic diseases [RCV003355678]|not provided [RCV001934043] |
Chr5:150080887 [GRCh38]
Chr5:149460450 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2866C>T (p.Gln956Ter) |
single nucleotide variant |
not provided [RCV001916107] |
Chr5:150054122 [GRCh38]
Chr5:149433685 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2533C>T (p.Leu845Phe) |
single nucleotide variant |
not provided [RCV002029295] |
Chr5:150056047 [GRCh38]
Chr5:149435610 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2808CAG[6] (p.Ser939_Ser940dup) |
microsatellite |
not provided [RCV001956944] |
Chr5:150054168..150054169 [GRCh38]
Chr5:149433731..149433732 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002272513]|not provided [RCV001867588] |
Chr5:150057546 [GRCh38]
Chr5:149437109 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.61C>T (p.Pro21Ser) |
single nucleotide variant |
not provided [RCV001919088] |
Chr5:150081013 [GRCh38]
Chr5:149460576 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1654ATC[1] (p.Ile553del) |
microsatellite |
not provided [RCV001881778] |
Chr5:150061817..150061819 [GRCh38]
Chr5:149441380..149441382 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.267C>T (p.Asp89=) |
single nucleotide variant |
not provided [RCV002108279] |
Chr5:150080807 [GRCh38]
Chr5:149460370 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2529C>T (p.Ile843=) |
single nucleotide variant |
not provided [RCV002188837] |
Chr5:150056051 [GRCh38]
Chr5:149435614 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2555-9C>T |
single nucleotide variant |
not provided [RCV002110183] |
Chr5:150055345 [GRCh38]
Chr5:149434908 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.796G>A (p.Asp266Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003007041]|not provided [RCV002090497] |
Chr5:150077369 [GRCh38]
Chr5:149456932 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2316G>A (p.Lys772=) |
single nucleotide variant |
not provided [RCV002170062] |
Chr5:150057290 [GRCh38]
Chr5:149436853 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1983C>T (p.Val661=) |
single nucleotide variant |
not provided [RCV002166907] |
Chr5:150059849 [GRCh38]
Chr5:149439412 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1082+20G>A |
single nucleotide variant |
not provided [RCV002125118] |
Chr5:150073281 [GRCh38]
Chr5:149452844 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1754G>T (p.Gly585Val) |
single nucleotide variant |
not provided [RCV002224673] |
Chr5:150061595 [GRCh38]
Chr5:149441158 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2067C>T (p.Pro689=) |
single nucleotide variant |
not provided [RCV002208967] |
Chr5:150059765 [GRCh38]
Chr5:149439328 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1564T>G (p.Cys522Gly) |
single nucleotide variant |
not provided [RCV002224928] |
Chr5:150068277 [GRCh38]
Chr5:149447840 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1144C>T (p.Leu382=) |
single nucleotide variant |
not provided [RCV002090632] |
Chr5:150070510 [GRCh38]
Chr5:149450073 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+16G>T |
single nucleotide variant |
not provided [RCV002144862] |
Chr5:150070440 [GRCh38]
Chr5:149450003 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1859-18T>C |
single nucleotide variant |
not provided [RCV002090027] |
Chr5:150060990 [GRCh38]
Chr5:149440553 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.544G>T (p.Gly182Cys) |
single nucleotide variant |
not provided [RCV002088675] |
Chr5:150080100 [GRCh38]
Chr5:149459663 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1653G>A (p.Lys551=) |
single nucleotide variant |
not provided [RCV002129543] |
Chr5:150061823 [GRCh38]
Chr5:149441386 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.237G>A (p.Thr79=) |
single nucleotide variant |
CSF1R-related disorder [RCV003408113]|not provided [RCV002080902] |
Chr5:150080837 [GRCh38]
Chr5:149460400 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.327C>T (p.Asn109=) |
single nucleotide variant |
not provided [RCV002094913] |
Chr5:150080317 [GRCh38]
Chr5:149459880 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2806G>A (p.Gly936Ser) |
single nucleotide variant |
not provided [RCV002195077] |
Chr5:150054182 [GRCh38]
Chr5:149433745 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003339913]|not provided [RCV002214913] |
Chr5:150080964 [GRCh38]
Chr5:149460527 [GRCh37]
Chr5:5q32 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.2133-20dup |
duplication |
not provided [RCV002116028] |
Chr5:150057611..150057612 [GRCh38]
Chr5:149437174..149437175 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1083-12TC[2] |
microsatellite |
not provided [RCV002080255] |
Chr5:150070578..150070579 [GRCh38]
Chr5:149450141..149450142 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1082+19C>T |
single nucleotide variant |
not provided [RCV002189265] |
Chr5:150073282 [GRCh38]
Chr5:149452845 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2132+2T>C |
single nucleotide variant |
not provided [RCV002224863] |
Chr5:150059698 [GRCh38]
Chr5:149439261 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.1965T>C (p.His655=) |
single nucleotide variant |
not provided [RCV002216209] |
Chr5:150060866 [GRCh38]
Chr5:149440429 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.685G>A (p.Val229Ile) |
single nucleotide variant |
not provided [RCV002080636] |
Chr5:150078156 [GRCh38]
Chr5:149457719 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1722G>A (p.Lys574=) |
single nucleotide variant |
not provided [RCV002117292] |
Chr5:150061754 [GRCh38]
Chr5:149441317 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1754-13G>A |
single nucleotide variant |
not provided [RCV002115656] |
Chr5:150061608 [GRCh38]
Chr5:149441171 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.730-16T>C |
single nucleotide variant |
not provided [RCV002071734] |
Chr5:150077451 [GRCh38]
Chr5:149457014 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.846C>T (p.Asn282=) |
single nucleotide variant |
not provided [RCV002112057] |
Chr5:150077319 [GRCh38]
Chr5:149456882 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2253G>A (p.Glu751=) |
single nucleotide variant |
CSF1R-related disorder [RCV004752157]|not provided [RCV002096551] |
Chr5:150057353 [GRCh38]
Chr5:149436916 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1317T>C (p.Asp439=) |
single nucleotide variant |
not provided [RCV002211955] |
Chr5:150070184 [GRCh38]
Chr5:149449747 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.375G>A (p.Leu125=) |
single nucleotide variant |
not provided [RCV002093442] |
Chr5:150080269 [GRCh38]
Chr5:149459832 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2654+20G>A |
single nucleotide variant |
not provided [RCV002194329] |
Chr5:150055217 [GRCh38]
Chr5:149434780 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1617G>A (p.Lys539=) |
single nucleotide variant |
not provided [RCV002197364] |
Chr5:150068224 [GRCh38]
Chr5:149447787 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1199-10_1199-7dup |
duplication |
not provided [RCV002077761] |
Chr5:150070308..150070309 [GRCh38]
Chr5:149449871..149449872 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu) |
single nucleotide variant |
CSF1R-related disorder [RCV003950955]|not provided [RCV002212830] |
Chr5:150080174 [GRCh38]
Chr5:149459737 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1400C>T (p.Thr467Met) |
single nucleotide variant |
not provided [RCV002105424] |
Chr5:150069983 [GRCh38]
Chr5:149449546 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.93C>A (p.Val31=) |
single nucleotide variant |
CSF1R-related disorder [RCV003941262]|not provided [RCV002080015] |
Chr5:150080981 [GRCh38]
Chr5:149460544 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1698C>T (p.Pro566=) |
single nucleotide variant |
not provided [RCV002085776] |
Chr5:150061778 [GRCh38]
Chr5:149441341 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1692C>T (p.Ile564=) |
single nucleotide variant |
CSF1R-related disorder [RCV004750712]|not provided [RCV002186274] |
Chr5:150061784 [GRCh38]
Chr5:149441347 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2874T>C (p.Asp958=) |
single nucleotide variant |
not provided [RCV002190894] |
Chr5:150054114 [GRCh38]
Chr5:149433677 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1517A>C (p.His506Pro) |
single nucleotide variant |
CSF1R-related disorder [RCV003958513]|Inborn genetic diseases [RCV004045042]|not provided [RCV002170735] |
Chr5:150068324 [GRCh38]
Chr5:149447887 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1236C>T (p.Asn412=) |
single nucleotide variant |
not provided [RCV002189741] |
Chr5:150070265 [GRCh38]
Chr5:149449828 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2706C>G (p.Thr902=) |
single nucleotide variant |
not provided [RCV002133661] |
Chr5:150054379 [GRCh38]
Chr5:149433942 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) |
single nucleotide variant |
not provided [RCV002214022] |
Chr5:150060946 [GRCh38]
Chr5:149440509 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.2784C>T (p.Ser928=) |
single nucleotide variant |
not provided [RCV002209720] |
Chr5:150054204 [GRCh38]
Chr5:149433767 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2221+13C>T |
single nucleotide variant |
not provided [RCV002193550] |
Chr5:150057491 [GRCh38]
Chr5:149437054 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1800G>A (p.Thr600=) |
single nucleotide variant |
not provided [RCV002077626] |
Chr5:150061549 [GRCh38]
Chr5:149441112 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+16G>A |
single nucleotide variant |
not provided [RCV002131987] |
Chr5:150070440 [GRCh38]
Chr5:149450003 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1659C>T (p.Ile553=) |
single nucleotide variant |
not provided [RCV002095803] |
Chr5:150061817 [GRCh38]
Chr5:149441380 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.307+12G>A |
single nucleotide variant |
not provided [RCV002146559] |
Chr5:150080755 [GRCh38]
Chr5:149460318 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.94G>A (p.Val32Met) |
single nucleotide variant |
not provided [RCV002133914] |
Chr5:150080980 [GRCh38]
Chr5:149460543 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV002498094]|not provided [RCV002092059] |
Chr5:150060893 [GRCh38]
Chr5:149440456 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.87G>A (p.Glu29=) |
single nucleotide variant |
not provided [RCV002076903] |
Chr5:150080987 [GRCh38]
Chr5:149460550 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.592+20C>T |
single nucleotide variant |
not provided [RCV002077426] |
Chr5:150080032 [GRCh38]
Chr5:149459595 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2436G>A (p.Lys812=) |
single nucleotide variant |
not provided [RCV002151499] |
Chr5:150056225 [GRCh38]
Chr5:149435788 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2307C>T (p.Leu769=) |
single nucleotide variant |
not provided [RCV002199503] |
Chr5:150057299 [GRCh38]
Chr5:149436862 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.21G>T (p.Leu7=) |
single nucleotide variant |
not provided [RCV002154134] |
Chr5:150086407 [GRCh38]
Chr5:149465970 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.729+13A>G |
single nucleotide variant |
not provided [RCV002154353] |
Chr5:150078099 [GRCh38]
Chr5:149457662 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2654+7G>A |
single nucleotide variant |
not provided [RCV002139262] |
Chr5:150055230 [GRCh38]
Chr5:149434793 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.489C>A (p.Thr163=) |
single nucleotide variant |
not provided [RCV002160221] |
Chr5:150080155 [GRCh38]
Chr5:149459718 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1284C>T (p.Asn428=) |
single nucleotide variant |
not provided [RCV002163476] |
Chr5:150070217 [GRCh38]
Chr5:149449780 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.759T>C (p.His253=) |
single nucleotide variant |
not provided [RCV002120038] |
Chr5:150077406 [GRCh38]
Chr5:149456969 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2320-20C>T |
single nucleotide variant |
not provided [RCV002163837] |
Chr5:150056361 [GRCh38]
Chr5:149435924 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.317G>A (p.Arg106Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002552987]|not provided [RCV002156908] |
Chr5:150080327 [GRCh38]
Chr5:149459890 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1119C>T (p.Pro373=) |
single nucleotide variant |
not provided [RCV002201107] |
Chr5:150070535 [GRCh38]
Chr5:149450098 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.49+13C>T |
single nucleotide variant |
not provided [RCV002164551] |
Chr5:150086366 [GRCh38]
Chr5:149465929 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2132+9T>C |
single nucleotide variant |
not provided [RCV002099597] |
Chr5:150059691 [GRCh38]
Chr5:149439254 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1869T>C (p.His623=) |
single nucleotide variant |
not provided [RCV002201693] |
Chr5:150060962 [GRCh38]
Chr5:149440525 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2742C>T (p.Ala914=) |
single nucleotide variant |
not provided [RCV002102217] |
Chr5:150054343 [GRCh38]
Chr5:149433906 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1449C>T (p.Tyr483=) |
single nucleotide variant |
not provided [RCV002135962] |
Chr5:150069934 [GRCh38]
Chr5:149449497 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2855C>T (p.Thr952Ile) |
single nucleotide variant |
not provided [RCV002219085] |
Chr5:150054133 [GRCh38]
Chr5:149433696 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+12G>A |
single nucleotide variant |
not provided [RCV002102264] |
Chr5:150070444 [GRCh38]
Chr5:149450007 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.942C>T (p.Thr314=) |
single nucleotide variant |
not provided [RCV002158234] |
Chr5:150073441 [GRCh38]
Chr5:149453004 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.314C>T (p.Ala105Val) |
single nucleotide variant |
not provided [RCV002103955] |
Chr5:150080330 [GRCh38]
Chr5:149459893 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1083-7C>T |
single nucleotide variant |
not provided [RCV002143088] |
Chr5:150070578 [GRCh38]
Chr5:149450141 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+19C>T |
single nucleotide variant |
not provided [RCV002139829] |
Chr5:150070437 [GRCh38]
Chr5:149450000 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.666C>T (p.Ile222=) |
single nucleotide variant |
not provided [RCV002217606] |
Chr5:150078175 [GRCh38]
Chr5:149457738 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1858+20G>A |
single nucleotide variant |
not provided [RCV002202494] |
Chr5:150061471 [GRCh38]
Chr5:149441034 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1563C>T (p.Ala521=) |
single nucleotide variant |
not provided [RCV002178518] |
Chr5:150068278 [GRCh38]
Chr5:149447841 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.366C>T (p.Asp122=) |
single nucleotide variant |
not provided [RCV002200956] |
Chr5:150080278 [GRCh38]
Chr5:149459841 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.993G>A (p.Leu331=) |
single nucleotide variant |
CSF1R-related disorder [RCV003895877]|not provided [RCV002099309] |
Chr5:150073390 [GRCh38]
Chr5:149452953 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.49+18G>C |
single nucleotide variant |
not provided [RCV002162191] |
Chr5:150086361 [GRCh38]
Chr5:149465924 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.592+20C>A |
single nucleotide variant |
not provided [RCV002154920] |
Chr5:150080032 [GRCh38]
Chr5:149459595 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1428C>T (p.Thr476=) |
single nucleotide variant |
not provided [RCV002141980] |
Chr5:150069955 [GRCh38]
Chr5:149449518 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.50-20C>T |
single nucleotide variant |
not provided [RCV002176604] |
Chr5:150081044 [GRCh38]
Chr5:149460607 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2442+15G>A |
single nucleotide variant |
not provided [RCV002140279] |
Chr5:150056204 [GRCh38]
Chr5:149435767 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1149C>T (p.Ala383=) |
single nucleotide variant |
not provided [RCV002119058] |
Chr5:150070505 [GRCh38]
Chr5:149450068 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2579T>C (p.Leu860Pro) |
single nucleotide variant |
not provided [RCV003109946] |
Chr5:150055312 [GRCh38]
Chr5:149434875 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg) |
single nucleotide variant |
not provided [RCV004784319] |
Chr5:150057324 [GRCh38]
Chr5:149436887 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity |
| NM_001288705.3(CSF1R):c.2858G>A (p.Cys953Tyr) |
single nucleotide variant |
not provided [RCV003118224] |
Chr5:150054130 [GRCh38]
Chr5:149433693 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1404_1421dup (p.Val474_Glu475insGlnSerLeuLeuThrVal) |
duplication |
not provided [RCV003115327] |
Chr5:150069961..150069962 [GRCh38]
Chr5:149449524..149449525 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1754-7G>A |
single nucleotide variant |
not provided [RCV003114793] |
Chr5:150061602 [GRCh38]
Chr5:149441165 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity |
| NC_000005.9:g.(?_147774340)_(149681936_?)del |
deletion |
not provided [RCV003116332] |
Chr5:147774340..149681936 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2522A>G (p.Tyr841Cys) |
single nucleotide variant |
not provided [RCV003112183] |
Chr5:150056058 [GRCh38]
Chr5:149435621 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2563C>A (p.Pro855Thr) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004797056] |
Chr5:150055328 [GRCh38]
Chr5:149434891 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV002249843] |
Chr5:150056082 [GRCh38]
Chr5:149435645 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV002288456] |
Chr5:150057504 [GRCh38]
Chr5:149437067 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2545T>G (p.Phe849Val) |
single nucleotide variant |
not provided [RCV002297533] |
Chr5:150056035 [GRCh38]
Chr5:149435598 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.69dup (p.Glu24fs) |
duplication |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003150922] |
Chr5:150081004..150081005 [GRCh38]
Chr5:149460567..149460568 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.473C>T (p.Pro158Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003299437] |
Chr5:150080171 [GRCh38]
Chr5:149459734 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1033C>T (p.His345Tyr) |
single nucleotide variant |
not provided [RCV002303421] |
Chr5:150073350 [GRCh38]
Chr5:149452913 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1520C>A (p.Thr507Lys) |
single nucleotide variant |
not provided [RCV002297854] |
Chr5:150068321 [GRCh38]
Chr5:149447884 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.997G>C (p.Gly333Arg) |
single nucleotide variant |
not provided [RCV002303856] |
Chr5:150073386 [GRCh38]
Chr5:149452949 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.668T>G (p.Val223Gly) |
single nucleotide variant |
not provided [RCV002304048] |
Chr5:150078173 [GRCh38]
Chr5:149457736 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2809A>G (p.Ser937Gly) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003479545] |
Chr5:150054179 [GRCh38]
Chr5:149433742 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1970G>A (p.Gly657Asp) |
single nucleotide variant |
not provided [RCV002301846] |
Chr5:150059862 [GRCh38]
Chr5:149439425 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1037A>G (p.Gln346Arg) |
single nucleotide variant |
not provided [RCV002299983] |
Chr5:150073346 [GRCh38]
Chr5:149452909 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.592+5G>A |
single nucleotide variant |
not provided [RCV002306085] |
Chr5:150080047 [GRCh38]
Chr5:149459610 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001288705.3(CSF1R):c.919C>G (p.Gln307Glu) |
single nucleotide variant |
not provided [RCV002295732] |
Chr5:150073464 [GRCh38]
Chr5:149453027 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2614G>A (p.Gly872Arg) |
single nucleotide variant |
not provided [RCV002994032] |
Chr5:150055277 [GRCh38]
Chr5:149434840 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1970-20del |
deletion |
not provided [RCV003015019] |
Chr5:150059882 [GRCh38]
Chr5:149439445 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2780C>T (p.Pro927Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002775223]|not provided [RCV002742015] |
Chr5:150054208 [GRCh38]
Chr5:149433771 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1981G>A (p.Val661Ile) |
single nucleotide variant |
not provided [RCV002727353] |
Chr5:150059851 [GRCh38]
Chr5:149439414 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1883A>C (p.Glu628Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004973648]|not provided [RCV002771597] |
Chr5:150060948 [GRCh38]
Chr5:149440511 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1511-8C>A |
single nucleotide variant |
not provided [RCV002613880] |
Chr5:150068338 [GRCh38]
Chr5:149447901 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1470C>T (p.Ser490=) |
single nucleotide variant |
not provided [RCV002795081] |
Chr5:150069913 [GRCh38]
Chr5:149449476 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1511-6T>C |
single nucleotide variant |
not provided [RCV002730313] |
Chr5:150068336 [GRCh38]
Chr5:149447899 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.458A>G (p.Asn153Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002997167]|not provided [RCV003778530] |
Chr5:150080186 [GRCh38]
Chr5:149459749 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.307+8G>A |
single nucleotide variant |
not provided [RCV002617285] |
Chr5:150080759 [GRCh38]
Chr5:149460322 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.542T>G (p.Met181Arg) |
single nucleotide variant |
not provided [RCV003032907] |
Chr5:150080102 [GRCh38]
Chr5:149459665 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.834C>A (p.Cys278Ter) |
single nucleotide variant |
not provided [RCV002880295] |
Chr5:150077331 [GRCh38]
Chr5:149456894 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1693G>A (p.Asp565Asn) |
single nucleotide variant |
not provided [RCV003074931] |
Chr5:150061783 [GRCh38]
Chr5:149441346 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2169T>C (p.Tyr723=) |
single nucleotide variant |
not provided [RCV002774967] |
Chr5:150057556 [GRCh38]
Chr5:149437119 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.308-12C>T |
single nucleotide variant |
not provided [RCV002996349] |
Chr5:150080348 [GRCh38]
Chr5:149459911 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter) |
single nucleotide variant |
not provided [RCV002637360] |
Chr5:150060907 [GRCh38]
Chr5:149440470 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.462C>T (p.Tyr154=) |
single nucleotide variant |
not provided [RCV002927733] |
Chr5:150080182 [GRCh38]
Chr5:149459745 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.698T>A (p.Phe233Tyr) |
single nucleotide variant |
not provided [RCV003039587] |
Chr5:150078143 [GRCh38]
Chr5:149457706 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.222T>C (p.Ala74=) |
single nucleotide variant |
not provided [RCV002871372] |
Chr5:150080852 [GRCh38]
Chr5:149460415 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2778G>A (p.Leu926=) |
single nucleotide variant |
not provided [RCV003003308] |
Chr5:150054210 [GRCh38]
Chr5:149433773 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.455C>T (p.Thr152Ile) |
single nucleotide variant |
not provided [RCV003038470] |
Chr5:150080189 [GRCh38]
Chr5:149459752 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1975G>A (p.Val659Ile) |
single nucleotide variant |
not provided [RCV003003114] |
Chr5:150059857 [GRCh38]
Chr5:149439420 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2244G>C (p.Arg748=) |
single nucleotide variant |
not provided [RCV002636364] |
Chr5:150057362 [GRCh38]
Chr5:149436925 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2446C>T (p.Arg816Cys) |
single nucleotide variant |
not provided [RCV002663028] |
Chr5:150056134 [GRCh38]
Chr5:149435697 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.471G>A (p.Ser157=) |
single nucleotide variant |
not provided [RCV002590444] |
Chr5:150080173 [GRCh38]
Chr5:149459736 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2208C>T (p.Ser736=) |
single nucleotide variant |
CSF1R-related disorder [RCV004750830]|not provided [RCV002619195] |
Chr5:150057517 [GRCh38]
Chr5:149437080 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1190C>T (p.Thr397Ile) |
single nucleotide variant |
not provided [RCV002706201] |
Chr5:150070464 [GRCh38]
Chr5:149450027 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1199-20CCT[2] |
microsatellite |
not provided [RCV002691156] |
Chr5:150070314..150070316 [GRCh38]
Chr5:149449877..149449879 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.72G>A (p.Glu24=) |
single nucleotide variant |
not provided [RCV002591126] |
Chr5:150081002 [GRCh38]
Chr5:149460565 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2555-20C>T |
single nucleotide variant |
not provided [RCV002636353] |
Chr5:150055356 [GRCh38]
Chr5:149434919 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.945G>C (p.Val315=) |
single nucleotide variant |
not provided [RCV002736370] |
Chr5:150073438 [GRCh38]
Chr5:149453001 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1030_1031delinsTT (p.Asp344Phe) |
indel |
not provided [RCV002636357] |
Chr5:150073352..150073353 [GRCh38]
Chr5:149452915..149452916 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2222-12T>C |
single nucleotide variant |
not provided [RCV002622482] |
Chr5:150057396 [GRCh38]
Chr5:149436959 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2692A>G (p.Thr898Ala) |
single nucleotide variant |
not provided [RCV002735051] |
Chr5:150054393 [GRCh38]
Chr5:149433956 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1178C>T (p.Thr393Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002980218] |
Chr5:150070476 [GRCh38]
Chr5:149450039 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1528C>G (p.Pro510Ala) |
single nucleotide variant |
not provided [RCV002591868] |
Chr5:150068313 [GRCh38]
Chr5:149447876 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1319+20C>T |
single nucleotide variant |
not provided [RCV002621999] |
Chr5:150070162 [GRCh38]
Chr5:149449725 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.24C>T (p.Leu8=) |
single nucleotide variant |
not provided [RCV002867405] |
Chr5:150086404 [GRCh38]
Chr5:149465967 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1479T>G (p.Ser493Arg) |
single nucleotide variant |
not provided [RCV002571044] |
Chr5:150069904 [GRCh38]
Chr5:149449467 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2512G>A (p.Val838Ile) |
single nucleotide variant |
not provided [RCV002705686] |
Chr5:150056068 [GRCh38]
Chr5:149435631 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.111G>A (p.Thr37=) |
single nucleotide variant |
not provided [RCV003080637] |
Chr5:150080963 [GRCh38]
Chr5:149460526 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1435C>A (p.His479Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002911184] |
Chr5:150069948 [GRCh38]
Chr5:149449511 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.132C>T (p.Gly44=) |
single nucleotide variant |
not provided [RCV003081140] |
Chr5:150080942 [GRCh38]
Chr5:149460505 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.974T>G (p.Val325Gly) |
single nucleotide variant |
not provided [RCV002639354] |
Chr5:150073409 [GRCh38]
Chr5:149452972 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2119A>G (p.Lys707Glu) |
single nucleotide variant |
not provided [RCV002797093] |
Chr5:150059713 [GRCh38]
Chr5:149439276 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1701G>T (p.Thr567=) |
single nucleotide variant |
not provided [RCV002639462] |
Chr5:150061775 [GRCh38]
Chr5:149441338 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.847G>A (p.Val283Met) |
single nucleotide variant |
not provided [RCV002643429] |
Chr5:150077318 [GRCh38]
Chr5:149456881 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1512A>G (p.Gly504=) |
single nucleotide variant |
not provided [RCV002876811] |
Chr5:150068329 [GRCh38]
Chr5:149447892 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1510+17G>A |
single nucleotide variant |
not provided [RCV002805888] |
Chr5:150069856 [GRCh38]
Chr5:149449419 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1082+1G>A |
single nucleotide variant |
not provided [RCV002745776] |
Chr5:150073300 [GRCh38]
Chr5:149452863 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2195C>T (p.Ser732Phe) |
single nucleotide variant |
not provided [RCV002645770] |
Chr5:150057530 [GRCh38]
Chr5:149437093 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2865G>A (p.Glu955=) |
single nucleotide variant |
not provided [RCV002712077] |
Chr5:150054123 [GRCh38]
Chr5:149433686 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2443-19C>A |
single nucleotide variant |
not provided [RCV003056360] |
Chr5:150056156 [GRCh38]
Chr5:149435719 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1764C>T (p.Leu588=) |
single nucleotide variant |
not provided [RCV002574955] |
Chr5:150061585 [GRCh38]
Chr5:149441148 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.234C>T (p.Asn78=) |
single nucleotide variant |
not provided [RCV002595993] |
Chr5:150080840 [GRCh38]
Chr5:149460403 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1529C>T (p.Pro510Leu) |
single nucleotide variant |
not provided [RCV002919176] |
Chr5:150068312 [GRCh38]
Chr5:149447875 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2475G>A (p.Glu825=) |
single nucleotide variant |
not provided [RCV002595453] |
Chr5:150056105 [GRCh38]
Chr5:149435668 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2222-17G>A |
single nucleotide variant |
not provided [RCV002575174] |
Chr5:150057401 [GRCh38]
Chr5:149436964 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.272T>G (p.Leu91Arg) |
single nucleotide variant |
not provided [RCV003024281] |
Chr5:150080802 [GRCh38]
Chr5:149460365 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2319+3G>A |
single nucleotide variant |
not provided [RCV002871698] |
Chr5:150057284 [GRCh38]
Chr5:149436847 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.142G>A (p.Val48Met) |
single nucleotide variant |
not provided [RCV003083606] |
Chr5:150080932 [GRCh38]
Chr5:149460495 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.223A>G (p.Thr75Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002893544] |
Chr5:150080851 [GRCh38]
Chr5:149460414 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.958A>G (p.Asn320Asp) |
single nucleotide variant |
not provided [RCV003024094] |
Chr5:150073425 [GRCh38]
Chr5:149452988 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1466A>G (p.Asn489Ser) |
single nucleotide variant |
not provided [RCV002914870] |
Chr5:150069917 [GRCh38]
Chr5:149449480 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.730-18C>T |
single nucleotide variant |
not provided [RCV003040049] |
Chr5:150077453 [GRCh38]
Chr5:149457016 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.308-14C>T |
single nucleotide variant |
not provided [RCV002594570] |
Chr5:150080350 [GRCh38]
Chr5:149459913 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1753+9G>A |
single nucleotide variant |
not provided [RCV002918697] |
Chr5:150061714 [GRCh38]
Chr5:149441277 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.941C>T (p.Thr314Ile) |
single nucleotide variant |
not provided [RCV003056234] |
Chr5:150073442 [GRCh38]
Chr5:149453005 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1196G>A (p.Arg399Gln) |
single nucleotide variant |
not provided [RCV003085623] |
Chr5:150070458 [GRCh38]
Chr5:149450021 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1314T>G (p.Thr438=) |
single nucleotide variant |
not provided [RCV002667893] |
Chr5:150070187 [GRCh38]
Chr5:149449750 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.593-5C>T |
single nucleotide variant |
not provided [RCV003042049] |
Chr5:150078253 [GRCh38]
Chr5:149457816 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1714A>G (p.Asn572Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002915089] |
Chr5:150061762 [GRCh38]
Chr5:149441325 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2128C>T (p.Arg710Cys) |
single nucleotide variant |
CSF1R-related disorder [RCV004750751]|Inborn genetic diseases [RCV002594717]|not provided [RCV002603824] |
Chr5:150059704 [GRCh38]
Chr5:149439267 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.730-10C>T |
single nucleotide variant |
not provided [RCV002875887] |
Chr5:150077445 [GRCh38]
Chr5:149457008 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1594C>T (p.Leu532=) |
single nucleotide variant |
not provided [RCV002595545] |
Chr5:150068247 [GRCh38]
Chr5:149447810 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.368C>T (p.Ala123Val) |
single nucleotide variant |
not provided [RCV002871898] |
Chr5:150080276 [GRCh38]
Chr5:149459839 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys) |
single nucleotide variant |
CSF1R-related disorder [RCV003916708]|not provided [RCV003004945] |
Chr5:150069887 [GRCh38]
Chr5:149449450 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.1241C>T (p.Ser414Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002955961]|not provided [RCV003730322] |
Chr5:150070260 [GRCh38]
Chr5:149449823 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2215G>A (p.Glu739Lys) |
single nucleotide variant |
not provided [RCV002642846] |
Chr5:150057510 [GRCh38]
Chr5:149437073 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2557C>T (p.Leu853=) |
single nucleotide variant |
not provided [RCV002596800] |
Chr5:150055334 [GRCh38]
Chr5:149434897 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+20G>A |
single nucleotide variant |
not provided [RCV002594896] |
Chr5:150070436 [GRCh38]
Chr5:149449999 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.668T>C (p.Val223Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002702709]|not provided [RCV005059227] |
Chr5:150078173 [GRCh38]
Chr5:149457736 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2203G>A (p.Asp735Asn) |
single nucleotide variant |
not provided [RCV002715451] |
Chr5:150057522 [GRCh38]
Chr5:149437085 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.785C>A (p.Thr262Asn) |
single nucleotide variant |
not provided [RCV002721089] |
Chr5:150077380 [GRCh38]
Chr5:149456943 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.700G>A (p.Asp234Asn) |
single nucleotide variant |
not provided [RCV003049079] |
Chr5:150078141 [GRCh38]
Chr5:149457704 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.705C>A (p.Val235=) |
single nucleotide variant |
not provided [RCV002720220] |
Chr5:150078136 [GRCh38]
Chr5:149457699 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2112C>T (p.Leu704=) |
single nucleotide variant |
not provided [RCV002580154] |
Chr5:150059720 [GRCh38]
Chr5:149439283 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.242_264del (p.Thr81fs) |
deletion |
not provided [RCV002937669] |
Chr5:150080810..150080832 [GRCh38]
Chr5:149460373..149460395 [GRCh37]
Chr5:5q32 |
pathogenic|uncertain significance |
| NM_001288705.3(CSF1R):c.2508C>A (p.Ser836Arg) |
single nucleotide variant |
not provided [RCV003048800] |
Chr5:150056072 [GRCh38]
Chr5:149435635 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2079C>T (p.Pro693=) |
single nucleotide variant |
not provided [RCV002630310] |
Chr5:150059753 [GRCh38]
Chr5:149439316 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2472A>C (p.Pro824=) |
single nucleotide variant |
not provided [RCV003030931] |
Chr5:150056108 [GRCh38]
Chr5:149435671 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.141C>A (p.Ser47Arg) |
single nucleotide variant |
not provided [RCV002631442] |
Chr5:150080933 [GRCh38]
Chr5:149460496 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp) |
single nucleotide variant |
CSF1R-related disorder [RCV003418646]|not provided [RCV002922297] |
Chr5:150057349 [GRCh38]
Chr5:149436912 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1862C>T (p.Thr621Met) |
single nucleotide variant |
not provided [RCV002597443] |
Chr5:150060969 [GRCh38]
Chr5:149440532 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.104G>A (p.Gly35Glu) |
single nucleotide variant |
not provided [RCV002581646] |
Chr5:150080970 [GRCh38]
Chr5:149460533 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1792G>A (p.Glu598Lys) |
single nucleotide variant |
not provided [RCV003047124] |
Chr5:150061557 [GRCh38]
Chr5:149441120 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2133-9C>T |
single nucleotide variant |
not provided [RCV003028208] |
Chr5:150057601 [GRCh38]
Chr5:149437164 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1109G>A (p.Arg370His) |
single nucleotide variant |
not provided [RCV002649450] |
Chr5:150070545 [GRCh38]
Chr5:149450108 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.436C>T (p.Arg146Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002717465] |
Chr5:150080208 [GRCh38]
Chr5:149459771 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.927C>A (p.Leu309=) |
single nucleotide variant |
not provided [RCV002649312] |
Chr5:150073456 [GRCh38]
Chr5:149453019 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2308G>A (p.Ala770Thr) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004820935]|Inborn genetic diseases [RCV002809718] |
Chr5:150057298 [GRCh38]
Chr5:149436861 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2797_2817del (p.Gly933_Ser939del) |
deletion |
not provided [RCV002832805] |
Chr5:150054171..150054191 [GRCh38]
Chr5:149433734..149433754 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002831198]|not provided [RCV003777828] |
Chr5:150080952 [GRCh38]
Chr5:149460515 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.141C>T (p.Ser47=) |
single nucleotide variant |
not provided [RCV002577000]|not specified [RCV004587360] |
Chr5:150080933 [GRCh38]
Chr5:149460496 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.25CTG[1] (p.Leu10del) |
microsatellite |
not provided [RCV003030923] |
Chr5:150086398..150086400 [GRCh38]
Chr5:149465961..149465963 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1567A>C (p.Met523Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002702935] |
Chr5:150068274 [GRCh38]
Chr5:149447837 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.465C>T (p.Ser155=) |
single nucleotide variant |
not provided [RCV003028624] |
Chr5:150080179 [GRCh38]
Chr5:149459742 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.722A>C (p.Asn241Thr) |
single nucleotide variant |
not provided [RCV003062133] |
Chr5:150078119 [GRCh38]
Chr5:149457682 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1970-12T>C |
single nucleotide variant |
not provided [RCV002834183] |
Chr5:150059874 [GRCh38]
Chr5:149439437 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2734G>A (p.Glu912Lys) |
single nucleotide variant |
not provided [RCV003031079] |
Chr5:150054351 [GRCh38]
Chr5:149433914 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2376C>G (p.Ala792=) |
single nucleotide variant |
not provided [RCV002900602] |
Chr5:150056285 [GRCh38]
Chr5:149435848 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1222T>C (p.Trp408Arg) |
single nucleotide variant |
not provided [RCV003011285] |
Chr5:150070279 [GRCh38]
Chr5:149449842 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2788A>T (p.Ser930Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003010845] |
Chr5:150054200 [GRCh38]
Chr5:149433763 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2763+17T>C |
single nucleotide variant |
not provided [RCV002630452] |
Chr5:150054305 [GRCh38]
Chr5:149433868 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.592+17G>A |
single nucleotide variant |
not provided [RCV002877140] |
Chr5:150080035 [GRCh38]
Chr5:149459598 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1858+16G>A |
single nucleotide variant |
not provided [RCV002597902] |
Chr5:150061475 [GRCh38]
Chr5:149441038 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.554del (p.Lys185fs) |
deletion |
Inborn genetic diseases [RCV002702625] |
Chr5:150080090 [GRCh38]
Chr5:149459653 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1896C>T (p.Ser632=) |
single nucleotide variant |
not provided [RCV002581004] |
Chr5:150060935 [GRCh38]
Chr5:149440498 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1326T>A (p.Asp442Glu) |
single nucleotide variant |
not provided [RCV002631935] |
Chr5:150070057 [GRCh38]
Chr5:149449620 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2245C>T (p.Pro749Ser) |
single nucleotide variant |
not provided [RCV003046599] |
Chr5:150057361 [GRCh38]
Chr5:149436924 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.328G>A (p.Val110Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002896071] |
Chr5:150080316 [GRCh38]
Chr5:149459879 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.289A>G (p.Ile97Val) |
single nucleotide variant |
not provided [RCV003030479] |
Chr5:150080785 [GRCh38]
Chr5:149460348 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2239G>C (p.Gly747Arg) |
single nucleotide variant |
not provided [RCV002933889] |
Chr5:150057367 [GRCh38]
Chr5:149436930 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2758G>A (p.Glu920Lys) |
single nucleotide variant |
not provided [RCV002770817] |
Chr5:150054327 [GRCh38]
Chr5:149433890 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.2221+7A>T |
single nucleotide variant |
not provided [RCV002601543] |
Chr5:150057497 [GRCh38]
Chr5:149437060 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1320-16A>G |
single nucleotide variant |
not provided [RCV002653472] |
Chr5:150070079 [GRCh38]
Chr5:149449642 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2655-4C>G |
single nucleotide variant |
not provided [RCV002943353] |
Chr5:150054434 [GRCh38]
Chr5:149433997 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1198+15C>T |
single nucleotide variant |
not provided [RCV002604059] |
Chr5:150070441 [GRCh38]
Chr5:149450004 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1948C>T (p.Leu650=) |
single nucleotide variant |
not provided [RCV002943415] |
Chr5:150060883 [GRCh38]
Chr5:149440446 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.890-4C>T |
single nucleotide variant |
not provided [RCV002603163] |
Chr5:150073497 [GRCh38]
Chr5:149453060 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2756G>C (p.Arg919Thr) |
single nucleotide variant |
not provided [RCV002676932] |
Chr5:150054329 [GRCh38]
Chr5:149433892 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2654+6C>T |
single nucleotide variant |
not provided [RCV003070491] |
Chr5:150055231 [GRCh38]
Chr5:149434794 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1749G>A (p.Gln583=) |
single nucleotide variant |
not provided [RCV002657736] |
Chr5:150061727 [GRCh38]
Chr5:149441290 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
not provided [RCV002605797] |
Chr5:150078242 [GRCh38]
Chr5:149457805 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.864C>T (p.Ser288=) |
single nucleotide variant |
not provided [RCV002607666] |
Chr5:150077301 [GRCh38]
Chr5:149456864 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1043A>G (p.Glu348Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002724386] |
Chr5:150073340 [GRCh38]
Chr5:149452903 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1316A>C (p.Asp439Ala) |
single nucleotide variant |
CSF1R-related disorder [RCV004750837]|not provided [RCV002606958] |
Chr5:150070185 [GRCh38]
Chr5:149449748 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2655-18_2655-16del |
deletion |
not provided [RCV002586295] |
Chr5:150054446..150054448 [GRCh38]
Chr5:149434009..149434011 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2792G>A (p.Arg931Lys) |
single nucleotide variant |
not provided [RCV002587163] |
Chr5:150054196 [GRCh38]
Chr5:149433759 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.740C>T (p.Pro247Leu) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148292] |
Chr5:150077425 [GRCh38]
Chr5:149456988 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.604C>T (p.Pro202Ser) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003148316] |
Chr5:150078237 [GRCh38]
Chr5:149457800 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2803A>G (p.Ser935Gly) |
single nucleotide variant |
not provided [RCV002612912] |
Chr5:150054185 [GRCh38]
Chr5:149433748 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2500G>A (p.Val834Ile) |
single nucleotide variant |
not provided [RCV002605794] |
Chr5:150056080 [GRCh38]
Chr5:149435643 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2781G>A (p.Pro927=) |
single nucleotide variant |
not provided [RCV002585271] |
Chr5:150054207 [GRCh38]
Chr5:149433770 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.297C>G (p.Leu99=) |
single nucleotide variant |
not provided [RCV002815025] |
Chr5:150080777 [GRCh38]
Chr5:149460340 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1962C>A (p.Thr654=) |
single nucleotide variant |
not provided [RCV002610267] |
Chr5:150060869 [GRCh38]
Chr5:149440432 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1308C>A (p.Gly436=) |
single nucleotide variant |
not provided [RCV002586179] |
Chr5:150070193 [GRCh38]
Chr5:149449756 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_005211.4(CSF1R):c.-181+13283G>T |
single nucleotide variant |
not provided [RCV003143369] |
Chr5:150099978 [GRCh38]
Chr5:149479541 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2008G>A (p.Asp670Asn) |
single nucleotide variant |
not provided [RCV004781139] |
Chr5:150059824 [GRCh38]
Chr5:149439387 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2473G>C (p.Glu825Gln) |
single nucleotide variant |
not provided [RCV004795127] |
Chr5:150056107 [GRCh38]
Chr5:149435670 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2442+2T>C |
single nucleotide variant |
not provided [RCV003323069] |
Chr5:150056217 [GRCh38]
Chr5:149435780 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003321454] |
Chr5:150056109 [GRCh38]
Chr5:149435672 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1583T>C (p.Leu528Ser) |
single nucleotide variant |
not provided [RCV003325168] |
Chr5:150068258 [GRCh38]
Chr5:149447821 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2377A>G (p.Lys793Glu) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003326726] |
Chr5:150056284 [GRCh38]
Chr5:149435847 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2801G>T (p.Gly934Val) |
single nucleotide variant |
not provided [RCV003327159] |
Chr5:150054187 [GRCh38]
Chr5:149433750 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.258G>T (p.Glu86Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003353912]|not provided [RCV003575080] |
Chr5:150080816 [GRCh38]
Chr5:149460379 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.2887T>C (p.Leu963=) |
single nucleotide variant |
not provided [RCV003881049] |
Chr5:150054101 [GRCh38]
Chr5:149433664 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1478G>A (p.Ser493Asn) |
single nucleotide variant |
not provided [RCV003571132] |
Chr5:150069905 [GRCh38]
Chr5:149449468 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1319+8G>T |
single nucleotide variant |
not provided [RCV003826120] |
Chr5:150070174 [GRCh38]
Chr5:149449737 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2379G>C (p.Lys793Asn) |
single nucleotide variant |
not provided [RCV003442307] |
Chr5:150056282 [GRCh38]
Chr5:149435845 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.521A>T (p.Asp174Val) |
single nucleotide variant |
not provided [RCV003429884] |
Chr5:150080123 [GRCh38]
Chr5:149459686 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala) |
single nucleotide variant |
not specified [RCV003388543] |
Chr5:150054326 [GRCh38]
Chr5:149433889 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2319T>C (p.Asn773=) |
single nucleotide variant |
not provided [RCV003429882] |
Chr5:150057287 [GRCh38]
Chr5:149436850 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2058C>T (p.Ser686=) |
single nucleotide variant |
not provided [RCV003429883] |
Chr5:150059774 [GRCh38]
Chr5:149439337 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1492T>C (p.Phe498Leu) |
single nucleotide variant |
CSF1R-related disorder [RCV003405787] |
Chr5:150069891 [GRCh38]
Chr5:149449454 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1717G>A (p.Glu573Lys) |
single nucleotide variant |
not provided [RCV003739122] |
Chr5:150061759 [GRCh38]
Chr5:149441322 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.173G>A (p.Trp58Ter) |
single nucleotide variant |
not provided [RCV003579401] |
Chr5:150080901 [GRCh38]
Chr5:149460464 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1754-20G>C |
single nucleotide variant |
not provided [RCV003661691] |
Chr5:150061615 [GRCh38]
Chr5:149441178 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.732C>T (p.Leu244=) |
single nucleotide variant |
not provided [RCV003827503] |
Chr5:150077433 [GRCh38]
Chr5:149456996 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1754-8C>T |
single nucleotide variant |
not provided [RCV003829946] |
Chr5:150061603 [GRCh38]
Chr5:149441166 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.666C>G (p.Ile222Met) |
single nucleotide variant |
not provided [RCV003686780] |
Chr5:150078175 [GRCh38]
Chr5:149457738 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2833G>A (p.Glu945Lys) |
single nucleotide variant |
not provided [RCV003688777] |
Chr5:150054155 [GRCh38]
Chr5:149433718 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1678A>C (p.Ser560Arg) |
single nucleotide variant |
not provided [RCV003577061] |
Chr5:150061798 [GRCh38]
Chr5:149441361 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1474G>A (p.Gly492Arg) |
single nucleotide variant |
not provided [RCV003544407] |
Chr5:150069909 [GRCh38]
Chr5:149449472 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.318G>A (p.Arg106=) |
single nucleotide variant |
not provided [RCV003830322] |
Chr5:150080326 [GRCh38]
Chr5:149459889 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2199A>G (p.Ser733=) |
single nucleotide variant |
not provided [RCV003714734] |
Chr5:150057526 [GRCh38]
Chr5:149437089 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1077A>G (p.Thr359=) |
single nucleotide variant |
not provided [RCV003829780] |
Chr5:150073306 [GRCh38]
Chr5:149452869 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1475G>C (p.Gly492Ala) |
single nucleotide variant |
not provided [RCV003660129] |
Chr5:150069908 [GRCh38]
Chr5:149449471 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2823G>A (p.Glu941=) |
single nucleotide variant |
not provided [RCV003688008] |
Chr5:150054165 [GRCh38]
Chr5:149433728 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2860T>C (p.Cys954Arg) |
single nucleotide variant |
not provided [RCV003826660] |
Chr5:150054128 [GRCh38]
Chr5:149433691 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2342C>G (p.Ala781Gly) |
single nucleotide variant |
not provided [RCV003694203] |
Chr5:150056319 [GRCh38]
Chr5:149435882 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.411C>T (p.Gly137=) |
single nucleotide variant |
not provided [RCV003876425] |
Chr5:150080233 [GRCh38]
Chr5:149459796 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1754-4_1754-3delinsAG |
indel |
not provided [RCV003574176] |
Chr5:150061598..150061599 [GRCh38]
Chr5:149441161..149441162 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1422T>C (p.Val474=) |
single nucleotide variant |
not provided [RCV003574583] |
Chr5:150069961 [GRCh38]
Chr5:149449524 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1560C>A (p.Val520=) |
single nucleotide variant |
not provided [RCV003690136] |
Chr5:150068281 [GRCh38]
Chr5:149447844 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.310C>T (p.Pro104Ser) |
single nucleotide variant |
not provided [RCV003828289] |
Chr5:150080334 [GRCh38]
Chr5:149459897 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1969+5G>C |
single nucleotide variant |
not provided [RCV003714214] |
Chr5:150060857 [GRCh38]
Chr5:149440420 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1970-20C>T |
single nucleotide variant |
not provided [RCV003882374] |
Chr5:150059882 [GRCh38]
Chr5:149439445 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.929T>A (p.Ile310Asn) |
single nucleotide variant |
not provided [RCV003697714] |
Chr5:150073454 [GRCh38]
Chr5:149453017 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.394C>G (p.Pro132Ala) |
single nucleotide variant |
not provided [RCV003698660] |
Chr5:150080250 [GRCh38]
Chr5:149459813 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1108C>A (p.Arg370Ser) |
single nucleotide variant |
not provided [RCV003699896] |
Chr5:150070546 [GRCh38]
Chr5:149450109 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.933G>A (p.Gln311=) |
single nucleotide variant |
not provided [RCV003852514] |
Chr5:150073450 [GRCh38]
Chr5:149453013 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2806_2808dup (p.Gly936_Ser937insGly) |
duplication |
not provided [RCV003659270] |
Chr5:150054179..150054180 [GRCh38]
Chr5:149433742..149433743 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2847G>A (p.Glu949=) |
single nucleotide variant |
not provided [RCV003832399] |
Chr5:150054141 [GRCh38]
Chr5:149433704 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1736G>A (p.Arg579Gln) |
single nucleotide variant |
not provided [RCV003663909] |
Chr5:150061740 [GRCh38]
Chr5:149441303 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.453C>T (p.His151=) |
single nucleotide variant |
not provided [RCV005062543] |
Chr5:150080191 [GRCh38]
Chr5:149459754 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2338G>C (p.Ala780Pro) |
single nucleotide variant |
not provided [RCV003580100] |
Chr5:150056323 [GRCh38]
Chr5:149435886 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2656T>C (p.Tyr886His) |
single nucleotide variant |
not provided [RCV003557898] |
Chr5:150054429 [GRCh38]
Chr5:149433992 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2655-18del |
deletion |
not provided [RCV003849373] |
Chr5:150054448 [GRCh38]
Chr5:149434011 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1047del (p.Lys350fs) |
deletion |
not provided [RCV003669641] |
Chr5:150073336 [GRCh38]
Chr5:149452899 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2643C>T (p.Ala881=) |
single nucleotide variant |
not provided [RCV003673711] |
Chr5:150055248 [GRCh38]
Chr5:149434811 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV003995102] |
Chr5:150056031 [GRCh38]
Chr5:149435594 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.890-18G>T |
single nucleotide variant |
not provided [RCV003816977] |
Chr5:150073511 [GRCh38]
Chr5:149453074 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1195C>A (p.Arg399=) |
single nucleotide variant |
not provided [RCV003674084] |
Chr5:150070459 [GRCh38]
Chr5:149450022 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1249C>A (p.Leu417Ile) |
single nucleotide variant |
not provided [RCV003673883] |
Chr5:150070252 [GRCh38]
Chr5:149449815 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1572C>T (p.Ser524=) |
single nucleotide variant |
not provided [RCV003816872] |
Chr5:150068269 [GRCh38]
Chr5:149447832 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1704G>A (p.Gln568=) |
single nucleotide variant |
CSF1R-related disorder [RCV003966548]|not provided [RCV003671752] |
Chr5:150061772 [GRCh38]
Chr5:149441335 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.934G>A (p.Glu312Lys) |
single nucleotide variant |
not provided [RCV003815100] |
Chr5:150073449 [GRCh38]
Chr5:149453012 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.980C>T (p.Ala327Val) |
single nucleotide variant |
not provided [RCV003579905] |
Chr5:150073403 [GRCh38]
Chr5:149452966 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2038G>A (p.Glu680Lys) |
single nucleotide variant |
not provided [RCV003580848] |
Chr5:150059794 [GRCh38]
Chr5:149439357 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003994624] |
Chr5:150056322 [GRCh38]
Chr5:149435885 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.735A>G (p.Ala245=) |
single nucleotide variant |
not provided [RCV003854496] |
Chr5:150077430 [GRCh38]
Chr5:149456993 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.70G>C (p.Glu24Gln) |
single nucleotide variant |
not provided [RCV003665458] |
Chr5:150081004 [GRCh38]
Chr5:149460567 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2654+14T>C |
single nucleotide variant |
not provided [RCV003668948] |
Chr5:150055223 [GRCh38]
Chr5:149434786 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1371C>G (p.Val457=) |
single nucleotide variant |
not provided [RCV003702344] |
Chr5:150070012 [GRCh38]
Chr5:149449575 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2172G>A (p.Val724=) |
single nucleotide variant |
not provided [RCV003837929] |
Chr5:150057553 [GRCh38]
Chr5:149437116 [GRCh37]
Chr5:5q32 |
benign |
| NM_001288705.3(CSF1R):c.1510+12C>T |
single nucleotide variant |
not provided [RCV003702420] |
Chr5:150069861 [GRCh38]
Chr5:149449424 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1816A>G (p.Lys606Glu) |
single nucleotide variant |
CSF1R-related disorder [RCV003984442]|not provided [RCV003849846] |
Chr5:150061533 [GRCh38]
Chr5:149441096 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2320-12G>A |
single nucleotide variant |
not provided [RCV003839005] |
Chr5:150056353 [GRCh38]
Chr5:149435916 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1935C>T (p.Asn645=) |
single nucleotide variant |
not provided [RCV003671774] |
Chr5:150060896 [GRCh38]
Chr5:149440459 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2068G>A (p.Gly690Ser) |
single nucleotide variant |
not provided [RCV003697327] |
Chr5:150059764 [GRCh38]
Chr5:149439327 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.593-12C>A |
single nucleotide variant |
not provided [RCV003835913] |
Chr5:150078260 [GRCh38]
Chr5:149457823 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.186T>C (p.Ser62=) |
single nucleotide variant |
not provided [RCV003816478] |
Chr5:150080888 [GRCh38]
Chr5:149460451 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2782A>G (p.Ser928Gly) |
single nucleotide variant |
not provided [RCV003864776] |
Chr5:150054206 [GRCh38]
Chr5:149433769 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2885C>T (p.Pro962Leu) |
single nucleotide variant |
not provided [RCV003707320] |
Chr5:150054103 [GRCh38]
Chr5:149433666 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2828A>G (p.Glu943Gly) |
single nucleotide variant |
not provided [RCV003568054] |
Chr5:150054160 [GRCh38]
Chr5:149433723 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2793_2819del (p.Arg931_Ser939del) |
deletion |
not provided [RCV003847786] |
Chr5:150054169..150054195 [GRCh38]
Chr5:149433732..149433758 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2117del (p.Lys706fs) |
deletion |
not provided [RCV003861371] |
Chr5:150059715 [GRCh38]
Chr5:149439278 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1440C>T (p.Asn480=) |
single nucleotide variant |
not provided [RCV003819647] |
Chr5:150069943 [GRCh38]
Chr5:149449506 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.236C>T (p.Thr79Met) |
single nucleotide variant |
not provided [RCV003681464] |
Chr5:150080838 [GRCh38]
Chr5:149460401 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2376C>T (p.Ala792=) |
single nucleotide variant |
not provided [RCV003709938] |
Chr5:150056285 [GRCh38]
Chr5:149435848 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.890-3C>T |
single nucleotide variant |
not provided [RCV003859443] |
Chr5:150073496 [GRCh38]
Chr5:149453059 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.41C>T (p.Ala14Val) |
single nucleotide variant |
not provided [RCV003678296] |
Chr5:150086387 [GRCh38]
Chr5:149465950 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1185G>A (p.Glu395=) |
single nucleotide variant |
not provided [RCV003542009] |
Chr5:150070469 [GRCh38]
Chr5:149450032 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1509A>C (p.Ala503=) |
single nucleotide variant |
not provided [RCV003865147] |
Chr5:150069874 [GRCh38]
Chr5:149449437 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.49+18G>T |
single nucleotide variant |
not provided [RCV003867419] |
Chr5:150086361 [GRCh38]
Chr5:149465924 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.963C>A (p.Leu321=) |
single nucleotide variant |
not provided [RCV003846927] |
Chr5:150073420 [GRCh38]
Chr5:149452983 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1626+8G>A |
single nucleotide variant |
not provided [RCV003843391] |
Chr5:150068207 [GRCh38]
Chr5:149447770 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2132+5C>A |
single nucleotide variant |
not provided [RCV003866864] |
Chr5:150059695 [GRCh38]
Chr5:149439258 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.285C>T (p.Ala95=) |
single nucleotide variant |
not provided [RCV003871062] |
Chr5:150080789 [GRCh38]
Chr5:149460352 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2797_2814del (p.Gly933_Ser938del) |
deletion |
not provided [RCV003683892] |
Chr5:150054174..150054191 [GRCh38]
Chr5:149433737..149433754 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1195C>G (p.Arg399Gly) |
single nucleotide variant |
not provided [RCV003550565] |
Chr5:150070459 [GRCh38]
Chr5:149450022 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2263C>T (p.Leu755=) |
single nucleotide variant |
not provided [RCV003731967] |
Chr5:150057343 [GRCh38]
Chr5:149436906 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.308-11_308-9del |
microsatellite |
not provided [RCV003720108] |
Chr5:150080345..150080347 [GRCh38]
Chr5:149459908..149459910 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2764-16T>A |
single nucleotide variant |
not provided [RCV003868048] |
Chr5:150054240 [GRCh38]
Chr5:149433803 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.957C>T (p.Leu319=) |
single nucleotide variant |
not provided [RCV003844453] |
Chr5:150073426 [GRCh38]
Chr5:149452989 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2006G>A (p.Gly669Asp) |
single nucleotide variant |
not provided [RCV003685417] |
Chr5:150059826 [GRCh38]
Chr5:149439389 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.369A>C (p.Ala123=) |
single nucleotide variant |
not provided [RCV003870598] |
Chr5:150080275 [GRCh38]
Chr5:149459838 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2080G>A (p.Glu694Lys) |
single nucleotide variant |
not provided [RCV003551385] |
Chr5:150059752 [GRCh38]
Chr5:149439315 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2056_2079del (p.Ser686_Pro693del) |
deletion |
not provided [RCV003722389] |
Chr5:150059753..150059776 [GRCh38]
Chr5:149439316..149439339 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.896C>T (p.Ala299Val) |
single nucleotide variant |
not provided [RCV003868203] |
Chr5:150073487 [GRCh38]
Chr5:149453050 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.362A>G (p.Gln121Arg) |
single nucleotide variant |
not provided [RCV003863624] |
Chr5:150080282 [GRCh38]
Chr5:149459845 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.670T>A (p.Cys224Ser) |
single nucleotide variant |
not provided [RCV003864017] |
Chr5:150078171 [GRCh38]
Chr5:149457734 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
not provided [RCV003867749] |
Chr5:150080109 [GRCh38]
Chr5:149459672 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2012T>C (p.Leu671Pro) |
single nucleotide variant |
not provided [RCV003683258] |
Chr5:150059820 [GRCh38]
Chr5:149439383 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.149G>T (p.Trp50Leu) |
single nucleotide variant |
not provided [RCV003556976] |
Chr5:150080925 [GRCh38]
Chr5:149460488 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2511C>T (p.Asp837=) |
single nucleotide variant |
not provided [RCV003729346] |
Chr5:150056069 [GRCh38]
Chr5:149435632 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1627-3C>T |
single nucleotide variant |
not provided [RCV003865719] |
Chr5:150061852 [GRCh38]
Chr5:149441415 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1468A>G (p.Ser490Gly) |
single nucleotide variant |
not provided [RCV003710069] |
Chr5:150069915 [GRCh38]
Chr5:149449478 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1667A>G (p.Tyr556Cys) |
single nucleotide variant |
not provided [RCV003863967] |
Chr5:150061809 [GRCh38]
Chr5:149441372 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1510+14T>C |
single nucleotide variant |
not provided [RCV003710366] |
Chr5:150069859 [GRCh38]
Chr5:149449422 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2736G>A (p.Glu912=) |
single nucleotide variant |
not provided [RCV003554243] |
Chr5:150054349 [GRCh38]
Chr5:149433912 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2740G>C (p.Ala914Pro) |
single nucleotide variant |
not provided [RCV003853148] |
Chr5:150054345 [GRCh38]
Chr5:149433908 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.286G>A (p.Ala96Thr) |
single nucleotide variant |
not provided [RCV003818187] |
Chr5:150080788 [GRCh38]
Chr5:149460351 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1040C>T (p.Pro347Leu) |
single nucleotide variant |
not provided [RCV003675546] |
Chr5:150073343 [GRCh38]
Chr5:149452906 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1611G>T (p.Leu537Phe) |
single nucleotide variant |
not provided [RCV003712113] |
Chr5:150068230 [GRCh38]
Chr5:149447793 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1108C>T (p.Arg370Cys) |
single nucleotide variant |
not provided [RCV003732210] |
Chr5:150070546 [GRCh38]
Chr5:149450109 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1680T>C (p.Ser560=) |
single nucleotide variant |
not provided [RCV003847847] |
Chr5:150061796 [GRCh38]
Chr5:149441359 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1233C>T (p.Ile411=) |
single nucleotide variant |
not provided [RCV003707850] |
Chr5:150070268 [GRCh38]
Chr5:149449831 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1199-17C>T |
single nucleotide variant |
not provided [RCV003820897] |
Chr5:150070319 [GRCh38]
Chr5:149449882 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.396G>A (p.Pro132=) |
single nucleotide variant |
not provided [RCV003730714] |
Chr5:150080248 [GRCh38]
Chr5:149459811 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1074C>T (p.Asp358=) |
single nucleotide variant |
not provided [RCV003563620] |
Chr5:150073309 [GRCh38]
Chr5:149452872 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2056dup (p.Ser686fs) |
duplication |
not provided [RCV003564993] |
Chr5:150059775..150059776 [GRCh38]
Chr5:149439338..149439339 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.1125G>A (p.Glu375=) |
single nucleotide variant |
CSF1R-related disorder [RCV003921376]|not provided [RCV003848357] |
Chr5:150070529 [GRCh38]
Chr5:149450092 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001288705.3(CSF1R):c.326A>G (p.Asn109Ser) |
single nucleotide variant |
not provided [RCV003568633] |
Chr5:150080318 [GRCh38]
Chr5:149459881 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1302C>T (p.Cys434=) |
single nucleotide variant |
not provided [RCV003728894] |
Chr5:150070199 [GRCh38]
Chr5:149449762 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
not provided [RCV003844047] |
Chr5:150078215 [GRCh38]
Chr5:149457778 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.767G>A (p.Arg256His) |
single nucleotide variant |
not provided [RCV003863392] |
Chr5:150077398 [GRCh38]
Chr5:149456961 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2262C>T (p.Asp754=) |
single nucleotide variant |
not provided [RCV003819007] |
Chr5:150057344 [GRCh38]
Chr5:149436907 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.145G>A (p.Glu49Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004370317] |
Chr5:150080929 [GRCh38]
Chr5:149460492 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2843G>A (p.Ser948Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004370318] |
Chr5:150054145 [GRCh38]
Chr5:149433708 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1647C>T (p.Arg549=) |
single nucleotide variant |
CSF1R-related disorder [RCV003966966] |
Chr5:150061829 [GRCh38]
Chr5:149441392 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.306dup (p.Asp103fs) |
duplication |
CSF1R-related disorder [RCV003899230] |
Chr5:150080767..150080768 [GRCh38]
Chr5:149460330..149460331 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.528A>G (p.Gln176=) |
single nucleotide variant |
CSF1R-related disorder [RCV003956736] |
Chr5:150080116 [GRCh38]
Chr5:149459679 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1685C>G (p.Thr562Ser) |
single nucleotide variant |
CSF1R-related disorder [RCV003934498] |
Chr5:150061791 [GRCh38]
Chr5:149441354 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2763+9G>A |
single nucleotide variant |
CSF1R-related disorder [RCV003954721]|not specified [RCV004701871] |
Chr5:150054313 [GRCh38]
Chr5:149433876 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1969+125C>T |
single nucleotide variant |
CSF1R-related disorder [RCV003976934] |
Chr5:150060737 [GRCh38]
Chr5:149440300 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.684C>T (p.Ser228=) |
single nucleotide variant |
CSF1R-related disorder [RCV003911665] |
Chr5:150078157 [GRCh38]
Chr5:149457720 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.797A>G (p.Asp266Gly) |
single nucleotide variant |
not provided [RCV003886936] |
Chr5:150077368 [GRCh38]
Chr5:149456931 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter) |
insertion |
not provided [RCV003887328] |
Chr5:150061793..150061794 [GRCh38]
Chr5:149441356..149441357 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.966A>G (p.Lys322=) |
single nucleotide variant |
CSF1R-related disorder [RCV003901908] |
Chr5:150073417 [GRCh38]
Chr5:149452980 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1232T>C (p.Ile411Thr) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004555786] |
Chr5:150070269 [GRCh38]
Chr5:149449832 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV004587855] |
Chr5:150056035 [GRCh38]
Chr5:149435598 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.254C>T (p.Thr85Ile) |
single nucleotide variant |
not provided [RCV004576057] |
Chr5:150080820 [GRCh38]
Chr5:149460383 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.979G>T (p.Ala327Ser) |
single nucleotide variant |
not provided [RCV004696834] |
Chr5:150073404 [GRCh38]
Chr5:149452967 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2687A>T (p.Glu896Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004613557] |
Chr5:150054398 [GRCh38]
Chr5:149433961 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2903A>G (p.Asn968Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004613556] |
Chr5:150054085 [GRCh38]
Chr5:149433648 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2380A>T (p.Ile794Phe) |
single nucleotide variant |
not provided [RCV004696833] |
Chr5:150056281 [GRCh38]
Chr5:149435844 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2371G>A (p.Val791Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004613558] |
Chr5:150056290 [GRCh38]
Chr5:149435853 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1088C>A (p.Thr363Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004613560]|not provided [RCV005102150] |
Chr5:150070566 [GRCh38]
Chr5:149450129 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2246C>T (p.Pro749Leu) |
single nucleotide variant |
not provided [RCV004778567] |
Chr5:150057360 [GRCh38]
Chr5:149436923 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.846C>A (p.Asn282Lys) |
single nucleotide variant |
not provided [RCV004780025] |
Chr5:150077319 [GRCh38]
Chr5:149456882 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1530G>A (p.Pro510=) |
single nucleotide variant |
CSF1R-related disorder [RCV004752535] |
Chr5:150068311 [GRCh38]
Chr5:149447874 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1510G>A (p.Gly504Arg) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004771682] |
Chr5:150069873 [GRCh38]
Chr5:149449436 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2287G>A (p.Ala763Thr) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV004759605] |
|
likely pathogenic |
| NM_001288705.3(CSF1R):c.2510A>T (p.Asp837Val) |
single nucleotide variant |
not provided [RCV004769372] |
Chr5:150056070 [GRCh38]
Chr5:149435633 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.689A>G (p.Asp230Gly) |
single nucleotide variant |
not provided [RCV004772648] |
Chr5:150078152 [GRCh38]
Chr5:149457715 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1078T>C (p.Tyr360His) |
single nucleotide variant |
CSF1R-related disorder [RCV004751112] |
Chr5:150073305 [GRCh38]
Chr5:149452868 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1969+110G>A |
single nucleotide variant |
CSF1R-related disorder [RCV004751009] |
Chr5:150060752 [GRCh38]
Chr5:149440315 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.719A>G (p.Asn240Ser) |
single nucleotide variant |
Brain abnormalities, neurodegeneration, and dysosteosclerosis [RCV005035391] |
Chr5:150078122 [GRCh38]
Chr5:149457685 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_005211.4(CSF1R):c.-181+2T>G |
single nucleotide variant |
not provided [RCV005052517] |
Chr5:150113259 [GRCh38]
Chr5:149492822 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1918C>G (p.Leu640Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004979243] |
Chr5:150060913 [GRCh38]
Chr5:149440476 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.659C>T (p.Ala220Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004979244]|not provided [RCV005061688] |
Chr5:150078182 [GRCh38]
Chr5:149457745 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001288705.3(CSF1R):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004979246] |
Chr5:150070228 [GRCh38]
Chr5:149449791 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2797_2802dup (p.Gly934_Ser935insGlyGly) |
duplication |
Inborn genetic diseases [RCV004979240]|not provided [RCV005061687] |
Chr5:150054185..150054186 [GRCh38]
Chr5:149433748..149433749 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.357G>C (p.Glu119Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004979245] |
Chr5:150080287 [GRCh38]
Chr5:149459850 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.229C>G (p.Gln77Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004979247] |
Chr5:150080845 [GRCh38]
Chr5:149460408 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2178G>A (p.Met726Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004979241] |
Chr5:150057547 [GRCh38]
Chr5:149437110 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1407G>C (p.Gln469His) |
single nucleotide variant |
Inborn genetic diseases [RCV004979242] |
Chr5:150069976 [GRCh38]
Chr5:149449539 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.649G>A (p.Gly217Arg) |
single nucleotide variant |
not provided [RCV005087984] |
Chr5:150078192 [GRCh38]
Chr5:149457755 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2478C>T (p.Ser826=) |
single nucleotide variant |
not provided [RCV005085078] |
Chr5:150056102 [GRCh38]
Chr5:149435665 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1535A>T (p.Glu512Val) |
single nucleotide variant |
not provided [RCV005170701] |
Chr5:150068306 [GRCh38]
Chr5:149447869 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1846A>C (p.Lys616Gln) |
single nucleotide variant |
not provided [RCV005054741] |
Chr5:150061503 [GRCh38]
Chr5:149441066 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1932G>A (p.Glu644=) |
single nucleotide variant |
not provided [RCV005172052] |
Chr5:150060899 [GRCh38]
Chr5:149440462 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1186C>A (p.Leu396Ile) |
single nucleotide variant |
not provided [RCV005171734] |
Chr5:150070468 [GRCh38]
Chr5:149450031 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2763+9G>C |
single nucleotide variant |
not provided [RCV005060004] |
Chr5:150054313 [GRCh38]
Chr5:149433876 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2766C>T (p.Asp922=) |
single nucleotide variant |
not provided [RCV005069866] |
Chr5:150054222 [GRCh38]
Chr5:149433785 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2190C>T (p.Ser730=) |
single nucleotide variant |
not provided [RCV005076062] |
Chr5:150057535 [GRCh38]
Chr5:149437098 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.49+17G>C |
single nucleotide variant |
not provided [RCV005180685] |
Chr5:150086362 [GRCh38]
Chr5:149465925 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.384G>A (p.Leu128=) |
single nucleotide variant |
not provided [RCV005206851] |
Chr5:150080260 [GRCh38]
Chr5:149459823 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1532A>C (p.Asp511Ala) |
single nucleotide variant |
not provided [RCV005114124] |
Chr5:150068309 [GRCh38]
Chr5:149447872 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2764-6C>T |
single nucleotide variant |
not provided [RCV005126806] |
Chr5:150054230 [GRCh38]
Chr5:149433793 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.172T>C (p.Trp58Arg) |
single nucleotide variant |
not provided [RCV005082570] |
Chr5:150080902 [GRCh38]
Chr5:149460465 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2133-10T>C |
single nucleotide variant |
not provided [RCV005079541] |
Chr5:150057602 [GRCh38]
Chr5:149437165 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1797C>T (p.Ala599=) |
single nucleotide variant |
not provided [RCV005076199] |
Chr5:150061552 [GRCh38]
Chr5:149441115 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2442+17C>T |
single nucleotide variant |
not provided [RCV005161517] |
Chr5:150056202 [GRCh38]
Chr5:149435765 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1133G>A (p.Arg378His) |
single nucleotide variant |
not provided [RCV005076171] |
Chr5:150070521 [GRCh38]
Chr5:149450084 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2133-15C>T |
single nucleotide variant |
not provided [RCV005077445] |
Chr5:150057607 [GRCh38]
Chr5:149437170 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.425G>A (p.Arg142His) |
single nucleotide variant |
not provided [RCV005081512] |
Chr5:150080219 [GRCh38]
Chr5:149459782 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1703A>G (p.Gln568Arg) |
single nucleotide variant |
not provided [RCV005159023] |
Chr5:150061773 [GRCh38]
Chr5:149441336 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1101T>C (p.Ser367=) |
single nucleotide variant |
not provided [RCV005203122] |
Chr5:150070553 [GRCh38]
Chr5:149450116 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2016C>T (p.Leu672=) |
single nucleotide variant |
not provided [RCV005138717] |
Chr5:150059816 [GRCh38]
Chr5:149439379 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2468C>G (p.Ala823Gly) |
single nucleotide variant |
not provided [RCV005114119] |
Chr5:150056112 [GRCh38]
Chr5:149435675 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.805G>T (p.Asp269Tyr) |
single nucleotide variant |
not provided [RCV005114128] |
Chr5:150077360 [GRCh38]
Chr5:149456923 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1989G>A (p.Thr663=) |
single nucleotide variant |
not provided [RCV005189812] |
Chr5:150059843 [GRCh38]
Chr5:149439406 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1401G>A (p.Thr467=) |
single nucleotide variant |
not provided [RCV005185786] |
Chr5:150069982 [GRCh38]
Chr5:149449545 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2442+7G>T |
single nucleotide variant |
not provided [RCV005074676] |
Chr5:150056212 [GRCh38]
Chr5:149435775 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1879A>G (p.Lys627Glu) |
single nucleotide variant |
not provided [RCV005079715] |
Chr5:150060952 [GRCh38]
Chr5:149440515 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1445C>A (p.Thr482Asn) |
single nucleotide variant |
not provided [RCV005233705] |
Chr5:150069938 [GRCh38]
Chr5:149449501 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1320-13C>T |
single nucleotide variant |
not provided [RCV005140121] |
Chr5:150070076 [GRCh38]
Chr5:149449639 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.967G>A (p.Val323Ile) |
single nucleotide variant |
not provided [RCV005167331] |
Chr5:150073416 [GRCh38]
Chr5:149452979 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1595T>A (p.Leu532Gln) |
single nucleotide variant |
not provided [RCV005114123] |
Chr5:150068246 [GRCh38]
Chr5:149447809 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2133-5T>C |
single nucleotide variant |
not provided [RCV005117774] |
Chr5:150057597 [GRCh38]
Chr5:149437160 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1248C>T (p.Thr416=) |
single nucleotide variant |
not provided [RCV005165781] |
Chr5:150070253 [GRCh38]
Chr5:149449816 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2222-18C>G |
single nucleotide variant |
not provided [RCV005119557] |
Chr5:150057402 [GRCh38]
Chr5:149436965 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2491_2492del (p.Val831fs) |
microsatellite |
not provided [RCV005159559] |
Chr5:150056088..150056089 [GRCh38]
Chr5:149435651..149435652 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001288705.3(CSF1R):c.2661C>T (p.Ser887=) |
single nucleotide variant |
not provided [RCV005166945] |
Chr5:150054424 [GRCh38]
Chr5:149433987 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.795C>G (p.Leu265=) |
single nucleotide variant |
not provided [RCV005069151] |
Chr5:150077370 [GRCh38]
Chr5:149456933 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2113G>A (p.Glu705Lys) |
single nucleotide variant |
not provided [RCV005076317] |
Chr5:150059719 [GRCh38]
Chr5:149439282 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1215C>T (p.Ser405=) |
single nucleotide variant |
not provided [RCV005139778] |
Chr5:150070286 [GRCh38]
Chr5:149449849 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2108A>G (p.His703Arg) |
single nucleotide variant |
not provided [RCV005082659] |
Chr5:150059724 [GRCh38]
Chr5:149439287 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1997G>A (p.Cys666Tyr) |
single nucleotide variant |
not provided [RCV005165079] |
Chr5:150059835 [GRCh38]
Chr5:149439398 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2133-15C>G |
single nucleotide variant |
not provided [RCV005080531] |
Chr5:150057607 [GRCh38]
Chr5:149437170 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1969+11T>C |
single nucleotide variant |
not provided [RCV005131575] |
Chr5:150060851 [GRCh38]
Chr5:149440414 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1517A>G (p.His506Arg) |
single nucleotide variant |
not provided [RCV005156030] |
Chr5:150068324 [GRCh38]
Chr5:149447887 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1646G>A (p.Arg549His) |
single nucleotide variant |
not provided [RCV005148495] |
Chr5:150061830 [GRCh38]
Chr5:149441393 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2243G>A (p.Arg748Gln) |
single nucleotide variant |
not provided [RCV005074340] |
Chr5:150057363 [GRCh38]
Chr5:149436926 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.285C>G (p.Ala95=) |
single nucleotide variant |
not provided [RCV005070656] |
Chr5:150080789 [GRCh38]
Chr5:149460352 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2908C>A (p.Gln970Lys) |
single nucleotide variant |
not provided [RCV005155340] |
Chr5:150054080 [GRCh38]
Chr5:149433643 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1969+16T>G |
single nucleotide variant |
not provided [RCV005201322] |
Chr5:150060846 [GRCh38]
Chr5:149440409 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1020A>T (p.Gly340=) |
single nucleotide variant |
not provided [RCV005072748] |
Chr5:150073363 [GRCh38]
Chr5:149452926 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.1996T>A (p.Cys666Ser) |
single nucleotide variant |
not provided [RCV005114121] |
Chr5:150059836 [GRCh38]
Chr5:149439399 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1162G>T (p.Gly388Cys) |
single nucleotide variant |
not provided [RCV005114125] |
Chr5:150070492 [GRCh38]
Chr5:149450055 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.829T>G (p.Ser277Ala) |
single nucleotide variant |
not provided [RCV005114127] |
Chr5:150077336 [GRCh38]
Chr5:149456899 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.792C>A (p.Asn264Lys) |
single nucleotide variant |
not provided [RCV005114129] |
Chr5:150077373 [GRCh38]
Chr5:149456936 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.2150G>A (p.Ser717Asn) |
single nucleotide variant |
not provided [RCV005114120] |
Chr5:150057575 [GRCh38]
Chr5:149437138 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1049A>C (p.Lys350Thr) |
single nucleotide variant |
not provided [RCV005114126] |
Chr5:150073334 [GRCh38]
Chr5:149452897 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001288705.3(CSF1R):c.1753+19A>T |
single nucleotide variant |
not provided [RCV005199630] |
Chr5:150061704 [GRCh38]
Chr5:149441267 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.945G>T (p.Val315=) |
single nucleotide variant |
not provided [RCV005110904] |
Chr5:150073438 [GRCh38]
Chr5:149453001 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2245C>A (p.Pro749Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004979248] |
Chr5:150057361 [GRCh38]
Chr5:149436924 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001288705.3(CSF1R):c.1510+13C>G |
single nucleotide variant |
Hereditary diffuse leukoencephalopathy with spheroids [RCV001155616]|not provided [RCV002070912] |
Chr5:150069860 [GRCh38]
Chr5:149449423 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys) |
single nucleotide variant |
Leukoencephalopathy, diffuse hereditary, with spheroids 1 [RCV003334444] |
Chr5:150054220 [GRCh38]
Chr5:149433783 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001288705.3(CSF1R):c.2839T>C (p.Ser947Pro) |
single nucleotide variant |
not provided [RCV003443672] |
Chr5:150054149 [GRCh38]
Chr5:149433712 [GRCh37]
Chr5:5q32 |
uncertain significance |
