Total 50 pathogenic variants reported for Hereditary diffuse leukoencephalopathy with spheroids 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) SNV
Germline		 Chr5:150055267 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Single Submitter
 CA342704 rs_281860279

2 SubmittersRCV000022684RCV005089298
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) SNV
Germline		 Chr5:150060934 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342706 rs_281860269

4 SubmittersRCV000022685RCV001565941RCV005252696
NM_001288705.3(CSF1R):c.1754-2A>G SNV
Germline		 Chr5:150061597 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA342708 rs_281860267

1 SubmittersRCV000022686
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) SNV
Germline		 Chr5:150056280 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342709 rs_281860274

10 SubmittersRCV000022687RCV001090375RCV003944835RCV004795936
NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) SNV
Germline		 Chr5:150056071 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA259666 rs_387906662

1 SubmittersRCV000022688
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) SNV
Germline		 Chr5:150056316 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343014 rs_281860281

5 SubmittersRCV000031932RCV001561353RCV002482936
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) SNV
Germline		 Chr5:150056332 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Single Submitter
 CA345024 rs_397515556

2 SubmittersRCV000055911RCV001854158
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) SNV
Unknown		 Chr5:150056097 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA345026 rs_397515557

1 SubmittersRCV000055912
NM_001288705.3(CSF1R):c.2442+1G>T SNV
Germline		 Chr5:150056218 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA345465 rs_587777246

2 SubmittersRCV000106404
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) SNV
Germline		 Chr5:150056319 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA345466 rs_587777247

2 SubmittersRCV000106405
NM_001288705.3(CSF1R):c.2655-2A>G SNV
Germline		 Chr5:150054432 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA346081 rs_690016554

1 SubmittersRCV000149529
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) SNV
Germline		 Chr5:150055262 Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346086 rs_690016556

3 SubmittersRCV000149532RCV000585150
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) SNV
Germline		 Chr5:150056039 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA346075 rs_690016551

3 SubmittersRCV000149526RCV005089720
NM_005211.3(CSF1R):c.2467C>T SNV
Germline		 Chr5:150056112 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids No Assertion Criteria Provided
 CA346098 rs_690016562

1 SubmittersRCV000149538
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) SNV
Germline		 Chr5:150056311 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA346102 rs_690016564

3 SubmittersRCV000149540RCV003989326RCV006461628
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) SNV
Germline		 Chr5:150056319 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346082 rs_587777247

4 SubmittersRCV000149530RCV001850026
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) SNV
Germline		 Chr5:150056331 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346069 rs_690016548

6 SubmittersRCV000149523RCV001850025RCV003398795RCV004760398
NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) SNV
Germline		 Chr5:150061760 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506731 rs_772750557

2 SubmittersRCV000370032RCV002520341
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) SNV
Germline		 Chr5:150077284 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
not specified
CSF1R-related disorder
Acute myeloid leukemia
Colon adenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA3507044 rs_149168939

7 SubmittersRCV000394491RCV000885737RCV002282125RCV003957818RCV005898950RCV005898949
NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=) SNV
Germline		 Chr5:150054192 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506333 rs_778420941

2 SubmittersRCV000317297RCV002061266
NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro) SNV
Germline		 Chr5:150054323 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Inborn genetic diseases
Condition: not provided
CSF1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA3506363 rs_56059682

4 SubmittersRCV000389397RCV002520339RCV002520340RCV004751490
NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) SNV
Germline		 Chr5:150070475 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506934 rs_767546915

5 SubmittersRCV000338738RCV001579847
NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=) SNV
Germline		 Chr5:150070543 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA3506942 rs_556530627

3 SubmittersRCV000402541RCV000899955RCV003970026
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) SNV
Germline		 Chr5:150077401 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Inborn genetic diseases
CSF1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA3507069 rs_146406037

8 SubmittersRCV000401860RCV000900257RCV002523513RCV003912501
NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) SNV
Germline		 Chr5:150054102 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA3506288 rs_370648666

4 SubmittersRCV000265478RCV002058516RCV003932442
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) SNV
Germline		 Chr5:150080328 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3507205 rs_143025739

8 SubmittersRCV000320554RCV000913539RCV002520345
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) SNV
Germline		 Chr5:150054339 Conflicting classifications of pathogenicity Condition: not provided
Hereditary diffuse leukoencephalopathy with spheroids
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3506368 rs_142435467

8 SubmittersRCV000513367RCV001157186RCV002524968
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) SNV
Germline		 Chr5:150069942 Pathogenic Inborn genetic diseases
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Condition: not provided
Hereditary diffuse leukoencephalopathy with spheroids		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129068991 rs_917027829

5 SubmittersRCV000624615RCV000785985RCV001860422RCV001849409
NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg) SNV
Germline		 Chr5:150055288 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Conflicting Classifications
 CA3506401 rs_281860278

4 SubmittersRCV001157187RCV002032454RCV004789408
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His) SNV
Germline		 Chr5:150059703 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3506570 rs_201569135

4 SubmittersRCV001151728RCV002557274RCV003425953RCV005540286
NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) SNV
Germline		 Chr5:150068281 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506781 rs_767351282

2 SubmittersRCV001155613RCV002070911
NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr) SNV
Germline		 Chr5:150070281 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506901 rs_372924085

2 SubmittersRCV001157283RCV002557343
NM_001288705.3(CSF1R):c.943G>A (p.Val315Met) SNV
Germline		 Chr5:150073440 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3506984 rs_756763314

3 SubmittersRCV001151836RCV001858995RCV002557278
NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr) SNV
Germline		 Chr5:150073488 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
CSF1R-related disorder		 Criteria Provided
Conflicting Classifications
 CA3506992 rs_370361925

4 SubmittersRCV001151837RCV001858996RCV003953537
NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) SNV
Germline		 Chr5:150078121 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3507103 rs_754023795

2 SubmittersRCV001153078RCV006465488
NM_001288705.3(CSF1R):c.195C>T (p.Ser65=) SNV
Germline		 Chr5:150080879 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA447146438 rs_1758508357

2 SubmittersRCV001157390RCV006557063
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) SNV
Germline		 Chr5:150061584 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided
Leukoencephalopathy, diffuse hereditary, with spheroids 1
CSF1R-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361714182 rs_1757529135

5 SubmittersRCV001249332RCV001577379RCV003152755RCV004751942
NM_001288705.3(CSF1R):c.1969+1G>A SNV
Unknown		 Chr5:150060861 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids Criteria Provided
Single Submitter
 CA361713725 rs_1757478199

1 SubmittersRCV001257140
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) SNV
Germline		 Chr5:150061577 Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Leukoencephalopathy, diffuse hereditary, with spheroids 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361714168 rs_1757528753

2 SubmittersRCV001261535RCV003393930
NM_001288705.3(CSF1R):c.1131C>T (p.Gly377=) SNV
Germline		 Chr5:150070523 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3506938 rs_369678672

2 SubmittersRCV001333366RCV002070174
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) SNV
Germline		 Chr5:150056317 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Condition: not provided
CSF1R-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361759008 rs_2113779576

5 SubmittersRCV001724744RCV002290740RCV002539735RCV003401656
NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) SNV
Germline		 Chr5:150055328 Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA361758160 rs_2113776541

2 SubmittersRCV001728045RCV002539778
NM_001605.3(AARS1):c.455G>T (p.Cys152Phe) SNV
Germline		 Chr16:70276510 Pathogenic/Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids
Leukoencephalopathy, hereditary diffuse, with spheroids 2		 No Assertion Criteria Provided
 CA396568600 rs_2152166694

2 SubmittersRCV001728170RCV001806251
NM_001288705.3(CSF1R):c.1069A>T (p.Lys357Ter) SNV
Germline		 Chr5:150073314 Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids Criteria Provided
Single Submitter
 CA129070479 rs_767475362

1 SubmittersRCV001808039
NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) SNV
Unknown		 Chr5:150056113 Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids Criteria Provided
Single Submitter
 CA361758573 rs_2113778666

1 SubmittersRCV001823037
NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His) SNV
Germline		 Chr5:150059759 Conflicting classifications of pathogenicity Condition: not provided
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Hereditary diffuse leukoencephalopathy with spheroids		 Criteria Provided
Conflicting Classifications
 CA3506589 rs_748641028

3 SubmittersRCV001914442RCV002484551RCV005414622
NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) SNV
Germline		 Chr5:150056082 Pathogenic Hereditary diffuse leukoencephalopathy with spheroids Criteria Provided
Single Submitter
 CA361758444 rs_780804532

1 SubmittersRCV002249843