CSF1R — 990 ClinVar variants
All ClinVar germline CSF1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 400 flagged for review →
42 Pathogenic · 5 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 62 Conflicting · 105 Benign · 19 Benign/Likely benign · 310 Likely benign · 412 Uncertain significance
Full CSF1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 400
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CSF1R p.Tyr923Cys
Likely pathogenic
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
Predictors agree, ClinVar conflicts 26
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CSF1R p.Ala220Val
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Ala299Thr
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Ala629Ser Conflicting Single submitter
-
CSF1R p.Arg106Gln
Conflicting
Single submitter
Inborn genetic diseases
- CSF1R p.Arg144His Conflicting Single submitter
-
CSF1R p.Arg294Gln
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Arg710His
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Arg753Gln
Conflicting
Single submitter
CSF1R-related disorder
-
CSF1R p.Arg753Trp
Conflicting
Single submitter
CSF1R-related disorder
-
CSF1R p.Arg900Lys
Conflicting
Single submitter
frontotemporal dementia
-
CSF1R p.Arg921Pro
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Asn428Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Asp266Asn
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Gln691His
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Gln761Arg Conflicting Single submitter
-
CSF1R p.Glu847Asp
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Gly747Val
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Gly798Arg
Conflicting
Single submitter
CSF1R-related disorder
-
CSF1R p.Gly933Ser
Conflicting
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.His506Pro
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Ile407Thr
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Leu845Phe
Conflicting
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Pro855Ser
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Thr654Asn
Conflicting
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Val315Met
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Val784Met
Conflicting
Single submitter
brain abnormalities, neurodegeneration, and dysosteosclerosis
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
CSF1R c.2442+2dup
Conflicting
Single submitter
CSF1R-Related Adult-Onset Leukoencephalopathy
Predictors lean, ClinVar uncertain 183
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 183
-
CSF1R p.Arg150His
Uncertain significance
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Arg166Lys
Uncertain significance
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Arg579Gln Uncertain significance Multiple submitters
-
CSF1R p.Arg710Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Asn153Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Asn854Lys
Uncertain significance
Multiple submitters
brain abnormalities, neurodegeneration, and dysosteosclerosis
- CSF1R p.Asp174Val Uncertain significance Multiple submitters
-
CSF1R p.Asp871Glu
Uncertain significance
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Gln173Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Glu628Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CSF1R p.Glu825Gln Uncertain significance Multiple submitters
- CSF1R p.Gly585Val Uncertain significance Multiple submitters
- CSF1R p.Gly872Arg Uncertain significance Multiple submitters
-
CSF1R p.Ile215Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Met523Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Ser638Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Thr85Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Tyr424His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CSF1R p.Ala14Val Uncertain significance Single submitter
- CSF1R p.Ala327Ser Uncertain significance Single submitter
- CSF1R p.Ala444Thr Uncertain significance Single submitter
- CSF1R p.Ala521Thr Uncertain significance Single submitter
- CSF1R p.Ala527Val Uncertain significance Single submitter
- CSF1R p.Ala599Pro Uncertain significance Single submitter
- CSF1R p.Ala599Val Uncertain significance Single submitter
- CSF1R p.Ala622Val Uncertain significance Single submitter
- CSF1R p.Ala780Pro Uncertain significance Single submitter
-
CSF1R p.Ala780Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Ala781Gly Uncertain significance Single submitter
- CSF1R p.Ala823Gly Uncertain significance Single submitter
- CSF1R p.Ala876Asp Uncertain significance Single submitter
- CSF1R p.Ala96Thr Uncertain significance Single submitter
- CSF1R p.Arg370His Uncertain significance Single submitter
- CSF1R p.Arg370Ser Uncertain significance Single submitter
-
CSF1R p.Arg390Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Arg399Gln Uncertain significance Single submitter
- CSF1R p.Arg727Lys Uncertain significance Single submitter
- CSF1R p.Arg816Cys Uncertain significance Single submitter
- CSF1R p.Arg931Lys Uncertain significance Single submitter
- CSF1R p.Asn109Ser Uncertain significance Single submitter
- CSF1R p.Asn264Lys Uncertain significance Single submitter
-
CSF1R p.Asn308Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asn320Asp Uncertain significance Single submitter
-
CSF1R p.Asn572Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Asn734His
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asn788Ser Uncertain significance Single submitter
-
CSF1R p.Asn968Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asp120Asn Uncertain significance Single submitter
- CSF1R p.Asp234Asn Uncertain significance Single submitter
- CSF1R p.Asp266Gly Uncertain significance Single submitter
-
CSF1R p.Asp439Ala
Uncertain significance
Single submitter
CSF1R-related disorder
- CSF1R p.Asp511Ala Uncertain significance Single submitter
- CSF1R p.Asp670Asn Uncertain significance Single submitter
- CSF1R p.Asp735Asn Uncertain significance Single submitter
- CSF1R p.Asp735Tyr Uncertain significance Single submitter
-
CSF1R p.Asp837Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asp837Val Uncertain significance Single submitter
-
CSF1R p.Asp917Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Cys224Ser Uncertain significance Single submitter
-
CSF1R p.Cys653Arg
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Cys666Ser Uncertain significance Single submitter
- CSF1R p.Cys666Tyr Uncertain significance Single submitter
- CSF1R p.Cys954Arg Uncertain significance Single submitter
- CSF1R p.Cys972Trp Uncertain significance Single submitter
-
CSF1R p.Gln113Glu
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Gln18Glu Uncertain significance Single submitter
- CSF1R p.Gln249Lys Uncertain significance Single submitter
- CSF1R p.Gln307Glu Uncertain significance Single submitter
- CSF1R p.Gln346Arg Uncertain significance Single submitter
- CSF1R p.Gln426Arg Uncertain significance Single submitter
- CSF1R p.Gln583His Uncertain significance Single submitter
-
CSF1R p.Gln77Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Gln965Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Gln970Lys Uncertain significance Single submitter
- CSF1R p.Glu24Gln Uncertain significance Single submitter
-
CSF1R p.Glu297Gln
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Glu348Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Glu443Lys Uncertain significance Single submitter
- CSF1R p.Glu475Asp Uncertain significance Single submitter
-
CSF1R p.Glu49Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Glu512Val Uncertain significance Single submitter
- CSF1R p.Glu598Lys Uncertain significance Single submitter
-
CSF1R p.Glu633Gln
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Glu633Gly
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Glu680Lys Uncertain significance Single submitter
- CSF1R p.Glu694Lys Uncertain significance Single submitter
- CSF1R p.Glu725Gly Uncertain significance Single submitter
-
CSF1R p.Glu739Asp
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Glu86Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Glu912Lys Uncertain significance Single submitter
- CSF1R p.Glu916Gln Uncertain significance Single submitter
- CSF1R p.Glu920Ala Uncertain significance Single submitter
- CSF1R p.Glu943Gly Uncertain significance Single submitter
-
CSF1R p.Gly137Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Gly217Arg Uncertain significance Single submitter
- CSF1R p.Gly333Arg Uncertain significance Single submitter
- CSF1R p.Gly492Arg Uncertain significance Single submitter
-
CSF1R p.Gly504Arg
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Gly591Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Gly657Asp Uncertain significance Single submitter
- CSF1R p.Gly669Asp Uncertain significance Single submitter
- CSF1R p.Gly80Trp Uncertain significance Single submitter
- CSF1R p.Gly872Val Uncertain significance Single submitter
- CSF1R p.Gly934Val Uncertain significance Single submitter
- CSF1R p.His345Tyr Uncertain significance Single submitter
- CSF1R p.His362Tyr Uncertain significance Single submitter
-
CSF1R p.His479Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.His506Arg Uncertain significance Single submitter
-
CSF1R p.His643Gln
Uncertain significance
Single submitter
brain abnormalities, neurodegeneration, and dysosteosclerosis
- CSF1R p.His703Arg Uncertain significance Single submitter
- CSF1R p.Ile189Asn Uncertain significance Single submitter
-
CSF1R p.Ile189Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Ile199Val Uncertain significance Single submitter
- CSF1R p.Ile310Asn Uncertain significance Single submitter
-
CSF1R p.Ile310Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Ile564Val Uncertain significance Single submitter
-
CSF1R p.Ile906Thr
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Ile97Val Uncertain significance Single submitter
- CSF1R p.Leu396Ile Uncertain significance Single submitter
-
CSF1R p.Leu514Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Leu537Phe Uncertain significance Single submitter
-
CSF1R p.Leu582Pro
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Leu671Pro Uncertain significance Single submitter
- CSF1R p.Leu786Phe Uncertain significance Single submitter
-
CSF1R p.Leu844Pro
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Leu860Pro Uncertain significance Single submitter
- CSF1R p.Lys350Thr Uncertain significance Single submitter
- CSF1R p.Lys616Gln Uncertain significance Single submitter
- CSF1R p.Lys707Asn Uncertain significance Single submitter
- CSF1R p.Lys707Glu Uncertain significance Single submitter
- CSF1R p.Lys744Glu Uncertain significance Single submitter
- CSF1R p.Lys793Asn Uncertain significance Single submitter
- CSF1R p.Met181Thr Uncertain significance Single submitter
- CSF1R p.Met291Val Uncertain significance Single submitter
-
CSF1R p.Met726Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Met766Val
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Met889Thr
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
- CSF1R p.Phe577Ile Uncertain significance Single submitter
- CSF1R p.Phe593Cys Uncertain significance Single submitter
- CSF1R p.Phe737Ser Uncertain significance Single submitter
- CSF1R p.Phe768Leu Uncertain significance Single submitter
- CSF1R p.Phe849Val Uncertain significance Single submitter
- CSF1R p.Phe971Tyr Uncertain significance Single submitter
- CSF1R p.Pro104Ser Uncertain significance Single submitter
- CSF1R p.Pro347Leu Uncertain significance Single submitter
-
CSF1R p.Pro425Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Pro54Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Pro857Arg
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Pro878Thr Uncertain significance Single submitter
- CSF1R p.Ser493Asn Uncertain significance Single submitter
Predictors split 189
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 189
-
CSF1R p.Ala123Gly
Benign/Likely benign
Multiple submitters
CSF1R-related disorder
-
CSF1R p.Ala299Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Ala770Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Arg41Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Arg549Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Arg727Gly
Uncertain significance
Multiple submitters
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Arg921Trp
Benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Asp565Asn Uncertain significance Multiple submitters
- CSF1R p.Asp958Val Uncertain significance Multiple submitters
-
CSF1R p.Gln874His
Uncertain significance
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Leu60Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Lys627Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CSF1R p.Pro209Leu Uncertain significance Multiple submitters
-
CSF1R p.Ser47Arg
Uncertain significance
Multiple submitters
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Ser730Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Thr363Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Thr467Ala
Uncertain significance
Multiple submitters
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Thr507Met
Likely benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Thr567Met Uncertain significance Multiple submitters
-
CSF1R p.Thr75Ile
Benign/Likely benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Thr85Ile Uncertain significance Multiple submitters
-
CSF1R p.Val117Met
Uncertain significance
Multiple submitters
brain abnormalities, neurodegeneration, and dysosteosclerosis
-
CSF1R p.Val223Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Val268Ile
Benign/Likely benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Val325Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Val32Gly
Benign/Likely benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Val406Ile
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
CSF1R p.Val468Leu
Uncertain significance
Multiple submitters
brain abnormalities, neurodegeneration, and dysosteosclerosis
-
CSF1R p.Val518Met
Benign
Multiple submitters
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Ala123Val Uncertain significance Single submitter
- CSF1R p.Ala179Thr Uncertain significance Single submitter
- CSF1R p.Ala220Thr Uncertain significance Single submitter
- CSF1R p.Ala327Val Uncertain significance Single submitter
- CSF1R p.Ala376Thr Uncertain significance Single submitter
-
CSF1R p.Ala770Val
Uncertain significance
Single submitter
cerebral arterial disease
- CSF1R p.Ala914Pro Uncertain significance Single submitter
-
CSF1R p.Arg106Trp
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Arg142His Uncertain significance Single submitter
-
CSF1R p.Arg146Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Arg150Cys Likely benign Single submitter
-
CSF1R p.Arg184Gly
Conflicting
Single submitter
Inborn genetic diseases
- CSF1R p.Arg184Thr Uncertain significance Single submitter
- CSF1R p.Arg192Trp Uncertain significance Single submitter
-
CSF1R p.Arg214Gln
Likely benign
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Arg216Gln
Conflicting
Single submitter
parkinsonian disorder
- CSF1R p.Arg256His Conflicting Single submitter
- CSF1R p.Arg294Trp Likely benign Single submitter
- CSF1R p.Arg370Cys Uncertain significance Single submitter
-
CSF1R p.Arg378Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Arg378Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Arg378His Uncertain significance Single submitter
- CSF1R p.Arg399Gly Uncertain significance Single submitter
- CSF1R p.Arg486Gly Uncertain significance Single submitter
- CSF1R p.Arg549His Likely benign Single submitter
- CSF1R p.Arg748Trp Likely benign Single submitter
- CSF1R p.Arg83His Uncertain significance Single submitter
- CSF1R p.Asn153His Benign Single submitter
-
CSF1R p.Asn240Lys
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
-
CSF1R p.Asn240Ser
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Asn255Ile
Conflicting
Single submitter
Inborn genetic diseases
- CSF1R p.Asn282Lys Uncertain significance Single submitter
- CSF1R p.Asn412Asp Uncertain significance Single submitter
- CSF1R p.Asn428Lys Uncertain significance Single submitter
- CSF1R p.Asn489Ser Uncertain significance Single submitter
-
CSF1R p.Asn925Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asp230Gly Uncertain significance Single submitter
- CSF1R p.Asp269Tyr Uncertain significance Single submitter
-
CSF1R p.Asp63His
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Asp63Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Asp712Gly Uncertain significance Single submitter
- CSF1R p.Asp829His Uncertain significance Single submitter
-
CSF1R p.Asp871Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Cys522Gly Uncertain significance Single submitter
-
CSF1R p.Gln469His
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Gln568Arg Uncertain significance Single submitter
- CSF1R p.Gln761Glu Uncertain significance Single submitter
-
CSF1R p.Glu119Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Glu119Gly Uncertain significance Single submitter
- CSF1R p.Glu211Lys Uncertain significance Single submitter
- CSF1R p.Glu312Lys Uncertain significance Single submitter
- CSF1R p.Glu554Asp Uncertain significance Single submitter
- CSF1R p.Glu573Lys Uncertain significance Single submitter
- CSF1R p.Glu705Lys Likely benign Single submitter
- CSF1R p.Glu739Lys Uncertain significance Single submitter
-
CSF1R p.Glu86Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Glu896Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Glu916Lys
Conflicting
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Glu920Lys Benign Single submitter
- CSF1R p.Glu945Lys Uncertain significance Single submitter
-
CSF1R p.Glu949Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Gly137Val
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Gly182Cys Likely benign Single submitter
- CSF1R p.Gly201Arg Conflicting Single submitter
-
CSF1R p.Gly274Ser
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
- CSF1R p.Gly316Arg Uncertain significance Single submitter
- CSF1R p.Gly35Glu Uncertain significance Single submitter
- CSF1R p.Gly388Cys Uncertain significance Single submitter
-
CSF1R p.Gly413Val
Conflicting
Single submitter
Inborn genetic diseases
-
CSF1R p.Gly436Ser
Uncertain significance
Single submitter
leukoencephalopathy, hereditary diffuse, with spheroids
- CSF1R p.Gly492Ala Uncertain significance Single submitter
-
CSF1R p.Gly558Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Gly88Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.His239Asn Uncertain significance Single submitter
- CSF1R p.Ile222Met Likely benign Single submitter
-
CSF1R p.Ile411Thr
Uncertain significance
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
-
CSF1R p.Leu366Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Leu366Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Leu417Ile Uncertain significance Single submitter
- CSF1R p.Leu514His Uncertain significance Single submitter
- CSF1R p.Leu528Ser Uncertain significance Single submitter
- CSF1R p.Leu532Gln Uncertain significance Single submitter
- CSF1R p.Leu537Ser Uncertain significance Single submitter
-
CSF1R p.Leu640Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Leu868Arg
Conflicting
Single submitter
leukoencephalopathy, diffuse hereditary, with spheroids 1
- CSF1R p.Lys606Gln Likely benign Single submitter
-
CSF1R p.Lys606Glu
Uncertain significance
Single submitter
CSF1R-related disorder
- CSF1R p.Lys772Arg Uncertain significance Single submitter
- CSF1R p.Met181Arg Uncertain significance Single submitter
- CSF1R p.Met804Val Uncertain significance Single submitter
- CSF1R p.Phe233Tyr Uncertain significance Single submitter
-
CSF1R p.Phe381Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Phe498Leu
Uncertain significance
Single submitter
CSF1R-related disorder
- CSF1R p.Pro132Ala Likely benign Single submitter
-
CSF1R p.Pro132Leu
Uncertain significance
Single submitter
brain abnormalities, neurodegeneration, and dysosteosclerosis
-
CSF1R p.Pro158Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Pro200Leu Uncertain significance Single submitter
-
CSF1R p.Pro202Ser
Uncertain significance
Single submitter
brain abnormalities, neurodegeneration, and dysosteosclerosis
- CSF1R p.Pro21Ser Uncertain significance Single submitter
-
CSF1R p.Pro247Leu
Uncertain significance
Single submitter
brain abnormalities, neurodegeneration, and dysosteosclerosis
- CSF1R p.Pro401Leu Uncertain significance Single submitter
- CSF1R p.Pro53His Uncertain significance Single submitter
- CSF1R p.Pro53Leu Uncertain significance Single submitter
- CSF1R p.Pro749Leu Uncertain significance Single submitter
- CSF1R p.Pro749Ser Uncertain significance Single submitter
-
CSF1R p.Pro749Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CSF1R p.Pro927Leu
Conflicting
Single submitter
Inborn genetic diseases
- CSF1R p.Pro962Leu Uncertain significance Single submitter
-
CSF1R p.Ser157Leu
Likely benign
Single submitter
CSF1R-related disorder
- CSF1R p.Ser178Asn Uncertain significance Single submitter
- CSF1R p.Ser277Ala Uncertain significance Single submitter
-
CSF1R p.Ser414Phe
Conflicting
Single submitter
Inborn genetic diseases
- CSF1R p.Ser490Gly Uncertain significance Single submitter
- CSF1R p.Ser495Phe Uncertain significance Single submitter
- CSF1R p.Ser560Arg Uncertain significance Single submitter
- CSF1R p.Ser66Gly Conflicting Single submitter
-
CSF1R p.Ser67Asn
Uncertain significance
Single submitter
CSF1R-related disorder
- CSF1R p.Ser713Gly Uncertain significance Single submitter
-
CSF1R p.Ser713Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CSF1R p.Ser717Asn Uncertain significance Single submitter
- CSF1R p.Ser732Phe Uncertain significance Single submitter
All CSF1R variants
Pathogenic 42
- p.Ala781Val Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Arg676Ter Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Arg777Gln Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Gln481Ter Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Tyr540Ter Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- c.1969+115_1969+116del Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- c.1969+1G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala770Pro Single submitter
- p.Arg777Trp Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Cys278Ter Single submitter
- p.Gln426fs Single submitter
- p.Gln642Ter Single submitter
- p.Glu626Ter Single submitter
- p.Glu739fs Single submitter
- p.Glu847Lys Single submitter
- p.Gly589Glu Single submitter
- p.His790fs Single submitter
- p.Lys185fs Single submitter Inborn genetic diseases
- p.Lys350fs Single submitter
- p.Lys706fs Single submitter
- p.Met875Thr Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Pro824Leu Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ser367fs Single submitter
- p.Ser55fs Single submitter
- p.Ser686fs Single submitter
- p.Ser850Ter Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Thr567fs Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr81fs Single submitter
- p.Thr833Lys Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Trp58Ter Single submitter
- p.Tyr561Ter Single submitter
- p.Val831fs Single submitter
- c.1754-1G>C No assertion criteria brain abnormalities, neurodegeneration, and dysosteosclerosis
- c.1754-2A>G No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- c.2442+1G>T No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- c.2467C>T No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- c.2655-2A>G No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala781Glu No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- p.Asp837Tyr No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ile843_Leu844delinsGlyIle No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- p.Phe828Ser No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser688fs No assertion criteria leukoencephalopathy, hereditary diffuse, with spheroids
Pathogenic/Likely pathogenic 5
- p.Arg782Cys Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Arg782His Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Glu633Lys Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Gly589Arg Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ile794Thr Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
Likely pathogenic 35
- p.Ala780Val Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Gln877Ter Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Gly591Glu Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- c.1082+1G>A Single submitter
- c.2132+2T>C Single submitter
- c.2442+2T>C Single submitter
- p.Ala681fs Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ala763Thr Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ala792Asp Single submitter
- p.Ala823Thr Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala891Pro Single submitter Alzheimer disease
- p.Arg782Leu Single submitter
- p.Asp802Gly Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Gln311Ter Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Gln835Ter Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Glu24fs Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Glu403Ter Single submitter
- p.Glu664Lys Single submitter
- p.Glu664Val Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Glu847Gln Single submitter
- p.His776Tyr Single submitter Alzheimer disease
- p.Ile646Asn Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ile794Phe Single submitter
- p.Leu817Gln Single submitter
- p.Lys357Ter Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Phe849Ile Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Pro818His Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Pro824Arg Single submitter
- p.Pro855Thr Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Ser281fs Single submitter
- p.Tyr276Ter Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Tyr923Cys Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Val613Met Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Lys793Glu No assertion criteria leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Phe849Ser No assertion criteria CSF1R-related leukoencephalopathy
Conflicting classifications of pathogenicity 62
- c.1199-6C>T Single submitter Inborn genetic diseases
- c.1754-7G>A Single submitter
- c.2442+2dup Single submitter CSF1R-Related Adult-Onset Leukoencephalopathy ⚠
- c.2442+5G>A Single submitter Inborn genetic diseases
- c.592+5G>A Single submitter
- p.Ala220Val Single submitter Inborn genetic diseases ⚠
- p.Ala299Thr Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Ala352= Single submitter
- p.Ala629Ser Single submitter ⚠
- p.Arg106Gln Single submitter Inborn genetic diseases ⚠
- p.Arg106Trp Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Arg144His Single submitter ⚠
- p.Arg184Gly Single submitter Inborn genetic diseases ⚠
- p.Arg216Gln Single submitter parkinsonian disorder ⚠
- p.Arg256His Single submitter ⚠
- p.Arg294Gln Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Arg378Cys Single submitter Inborn genetic diseases ⚠
- p.Arg710His Single submitter Inborn genetic diseases ⚠
- p.Arg753Gln Single submitter CSF1R-related disorder ⚠
- p.Arg753Trp Single submitter CSF1R-related disorder ⚠
- p.Arg900Lys Single submitter frontotemporal dementia ⚠
- p.Arg921Pro Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Asn240Lys Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Asn255Ile Single submitter Inborn genetic diseases ⚠
- p.Asn428Ser Single submitter Inborn genetic diseases ⚠
- p.Asn572= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Asp266Asn Single submitter Inborn genetic diseases ⚠
- p.Asp63His Single submitter Inborn genetic diseases ⚠
- p.Gln691His Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Gln761Arg Single submitter ⚠
- p.Glu847Asp Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Glu86Asp Single submitter Inborn genetic diseases ⚠
- p.Glu916Lys Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly377= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Gly413Val Single submitter Inborn genetic diseases ⚠
- p.Gly747Val Single submitter Inborn genetic diseases ⚠
- p.Gly798Arg Single submitter CSF1R-related disorder ⚠
- p.Gly933Ser Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.His506Pro Single submitter Inborn genetic diseases ⚠
- p.Ile407Thr Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Leu371= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Leu845Phe Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Leu868Arg Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Pro855Ser Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Pro927Leu Single submitter Inborn genetic diseases ⚠
- p.Pro962= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser414Phe Single submitter Inborn genetic diseases ⚠
- p.Ser65= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser66Gly Single submitter ⚠
- p.Ser932= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr163Ala Single submitter Inborn genetic diseases ⚠
- p.Thr37Met Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
- p.Thr393= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr600Met Single submitter ⚠
- p.Thr654Asn Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Thr79= Single submitter CSF1R-related disorder
- p.Val315Met Single submitter Inborn genetic diseases ⚠
- p.Val32Met Single submitter Inborn genetic diseases ⚠
- p.Val474Ile Single submitter ⚠
- p.Val48Met Single submitter ⚠
- p.Val784Met Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
Benign 105
- c.1083-8T>C Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.1510+16C>T Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- c.1626+12C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.1626+7C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.2132+5C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.2133-35G>C Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- c.2442+23C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.*35C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.*36A>C Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Ala245Ser Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Arg921Trp Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Asn241Asp Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Glu576= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Gly413Ser Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Gly64= Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Gly933= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.His362Arg Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.His98= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Leu845= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Phe903= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Pro28= Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Pro90Thr Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser139= Multiple submitters
- p.Thr242= Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Thr75= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr833= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Val279Met Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Val518Met Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- c.1082+20G>A Single submitter
- c.1082+71G>A Single submitter
- c.1083-124C>T Single submitter
- c.1198+16G>A Single submitter
- c.1198+16G>T Single submitter
- c.1510+17G>A Single submitter
- c.1511-167C>T Single submitter
- c.1626+13G>A Single submitter
- c.1626+150T>C Single submitter
- c.1754-13G>A Single submitter
- c.1858+203A>G Single submitter
- c.1858+37del Single submitter
- c.1859-109G>A Single submitter
- c.1859-188C>T Single submitter
- c.1859-204T>C Single submitter
- c.1859-242C>T Single submitter
- c.1969+182C>T Single submitter
- c.1969+264C>T Single submitter
- c.1969+311G>A Single submitter
- c.1969+91C>T Single submitter
- c.1970-163A>G Single submitter
- c.1970-20del Single submitter
- c.1970-33A>C Single submitter
- c.1970-69G>T Single submitter
- c.2133-160G>A Single submitter
- c.2133-20dup Single submitter
- c.2222-18C>T Single submitter
- c.2319+164A>C Single submitter
- c.2654+116A>C Single submitter
- c.2654+14T>C Single submitter
- c.2763+28G>C Single submitter
- c.307+154C>T Single submitter
- c.49+51A>G Single submitter
- c.50-214G>A Single submitter
- c.592+41G>A Single submitter
- c.592+54C>G Single submitter
- c.593-19G>A Single submitter
- c.729+182T>C Single submitter
- c.889+28C>T Single submitter
- c.889+67A>T Single submitter
- c.889+68G>T Single submitter
- c.-180-119A>G Single submitter
- c.-180-145G>C Single submitter
- c.-187G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-249G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-25T>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*199A>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*221C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*231C>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*310C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*405G>C Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*500C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*512T>C Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*532G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*604A>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*64C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*769A>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*774A>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala245Thr Single submitter
- p.Ala624= Single submitter
- p.Ala781= Single submitter CSF1R-related disorder
- p.Asn153His Single submitter ⚠
- p.Asn241Thr Single submitter
- p.Glu375= Single submitter CSF1R-related disorder
- p.Glu920Lys Single submitter ⚠
- p.Gly747Arg Single submitter
- p.Gly936Ser Single submitter
- p.Ile499Lys Single submitter CSF1R-related disorder
- p.Leu125= Single submitter
- p.Lys812= Single submitter
- p.Pro510Ala Single submitter
- p.Ser288= Single submitter
- p.Ser947= Single submitter
- p.Thr621Met Single submitter ⚠
- p.Val31= Single submitter
- p.Val519Leu Single submitter
- p.Val724= Single submitter
Benign/Likely benign 19
- c.1626+3G>A Multiple submitters Inborn genetic diseases
- c.1753+7T>C Multiple submitters
- c.593-9C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala123Gly Multiple submitters CSF1R-related disorder ⚠
- p.Cys954= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Glu920Asp Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.His643= Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Ile646= Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Leu536Val Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Leu60= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser935= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ser94= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr314= Multiple submitters
- p.Thr722= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr75Ile Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Val268Ile Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Val32Gly Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Val406Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val468= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
Likely benign 310
Showing the top 300 by review status; the full set is in the sitemap.
- c.1319+12C>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.1510+13C>G Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.1858+16G>A Multiple submitters
- c.49+14G>C Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.592+20C>T Multiple submitters
- c.890-4C>T Multiple submitters
- p.Arg921Gln Multiple submitters
- p.Cys434= Multiple submitters
- p.Glu949= Multiple submitters Inborn genetic diseases
- p.Gly669= Multiple submitters CSF1R-related disorder
- p.Leu529= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Leu532= Multiple submitters
- p.Lys551= Multiple submitters
- p.Lys820= Multiple submitters
- p.Pro510Leu Multiple submitters
- p.Ser47= Multiple submitters
- p.Ser686= Multiple submitters
- p.Ser836= Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Thr163= Multiple submitters
- p.Thr507Met Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Thr587Ile Multiple submitters
- p.Thr663= Multiple submitters
- p.Tyr483= Multiple submitters
- p.Val229Ile Multiple submitters
- c.1082+19C>T Single submitter
- c.1083-12TC[2] Single submitter
- c.1083-18C>G Single submitter
- c.1083-7C>T Single submitter
- c.1198+12G>A Single submitter
- c.1198+15C>T Single submitter
- c.1198+19C>T Single submitter
- c.1198+20G>A Single submitter
- c.1199-10_1199-7dup Single submitter
- c.1199-17C>T Single submitter
- c.1199-20CCT[2] Single submitter
- c.1199-5C>G Single submitter
- c.1319+20C>T Single submitter
- c.1319+8G>T Single submitter
- c.1320-13C>T Single submitter
- c.1320-16A>G Single submitter
- c.1510+11G>A Single submitter
- c.1510+12C>T Single submitter
- c.1510+14T>C Single submitter
- c.1511-4C>T Single submitter
- c.1511-6T>C Single submitter
- c.1511-8C>A Single submitter
- c.1626+8G>A Single submitter
- c.1753+19A>T Single submitter
- c.1753+9G>A Single submitter
- c.1754-20G>C Single submitter
- c.1754-8C>T Single submitter
- c.1858+20G>A Single submitter
- c.1859-18T>C Single submitter
- c.1969+11T>C Single submitter
- c.1969+16T>G Single submitter
- c.1970-12T>C Single submitter
- c.1970-20C>A Single submitter
- c.1970-20C>T Single submitter
- c.2132+9T>C Single submitter
- c.2133-10T>C Single submitter
- c.2133-15C>G Single submitter
- c.2133-15C>T Single submitter
- c.2133-5T>C Single submitter
- c.2133-9C>T Single submitter
- c.2221+13C>T Single submitter
- c.2221+7A>T Single submitter
- c.2222-12T>C Single submitter
- c.2222-17G>A Single submitter
- c.2222-18C>G Single submitter
- c.2320-12G>A Single submitter
- c.2320-20C>T Single submitter
- c.2442+15G>A Single submitter
- c.2442+17C>T Single submitter
- c.2442+7G>T Single submitter
- c.2443-19C>A Single submitter
- c.2555-20C>T Single submitter
- c.2555-9C>T Single submitter
- c.2654+15C>T Single submitter
- c.2654+16C>T Single submitter
- c.2654+20G>A Single submitter
- c.2654+7G>A Single submitter
- c.2655-18_2655-16del Single submitter
- c.2655-18del Single submitter
- c.2655-4C>G Single submitter
- c.2763+17T>C Single submitter
- c.2763+18T>G Single submitter
- c.2763+9G>A Single submitter CSF1R-related disorder
- c.2763+9G>C Single submitter
- c.2764-4T>C Single submitter
- c.2764-5C>G Single submitter
- c.2764-5C>T Single submitter
- c.2764-6C>T Single submitter
- c.307+12G>A Single submitter
- c.307+8G>A Single submitter
- c.308-11_308-9del Single submitter
- c.308-12C>T Single submitter
- c.308-14C>T Single submitter
- c.49+13C>T Single submitter
- c.49+16G>T Single submitter
- c.49+17G>C Single submitter
- c.49+18G>A Single submitter
- c.49+18G>C Single submitter
- c.49+18G>T Single submitter
- c.50-20C>T Single submitter
- c.592+17G>A Single submitter
- c.592+20C>A Single submitter
- c.593-12C>A Single submitter
- c.593-13C>T Single submitter
- c.729+13A>G Single submitter
- c.729+14G>T Single submitter
- c.730-10C>T Single submitter
- c.730-16T>C Single submitter
- c.730-18C>T Single submitter
- c.890-18G>T Single submitter
- p.Ala105Val Single submitter
- p.Ala123= Single submitter
- p.Ala14= Single submitter
- p.Ala210Glu Single submitter
- p.Ala245= Single submitter
- p.Ala273= Single submitter CSF1R-related disorder
- p.Ala383= Single submitter
- p.Ala505= Single submitter
- p.Ala521= Single submitter
- p.Ala599= Single submitter
- p.Ala74= Single submitter
- p.Ala792= Single submitter
- p.Ala881= Single submitter
- p.Ala914= Single submitter
- p.Ala95= Single submitter
- p.Ala95Thr Single submitter
- p.Arg106= Single submitter
- p.Arg150Cys Single submitter ⚠
- p.Arg192Gln Single submitter
- p.Arg214= Single submitter
- p.Arg214Gln Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Arg294Trp Single submitter ⚠
- p.Arg399= Single submitter
- p.Arg549His Single submitter ⚠
- p.Arg748= Single submitter
- p.Arg748Gln Single submitter
- p.Arg748Trp Single submitter ⚠
- p.Arg919Thr Single submitter
- p.Asn109= Single submitter
- p.Asn282= Single submitter
- p.Asn302= Single submitter
- p.Asn308Lys Single submitter CSF1R-related disorder
- p.Asn412= Single submitter
- p.Asn428= Single submitter
- p.Asn480= Single submitter
- p.Asn645= Single submitter
- p.Asn73= Single submitter
- p.Asn773= Single submitter
- p.Asn78= Single submitter
- p.Asn783= Single submitter
- p.Asp122= Single submitter
- p.Asp131= Single submitter
- p.Asp269Glu Single submitter
- p.Asp358= Single submitter
- p.Asp439= Single submitter
- p.Asp442Glu Single submitter
- p.Asp698Asn Single submitter
- p.Asp754= Single submitter
- p.Asp837= Single submitter
- p.Asp89= Single submitter
- p.Asp922= Single submitter
- p.Asp958= Single submitter
- p.Cys278= Single submitter
- p.Cys953Tyr Single submitter
- p.Gln121Arg Single submitter
- p.Gln221= Single submitter
- p.Gln238= Single submitter
- p.Gln311= Single submitter
- p.Gln568= Single submitter CSF1R-related disorder
- p.Gln583= Single submitter
- p.Gln764= Single submitter
- p.Glu24= Single submitter
- p.Glu29= Single submitter
- p.Glu395= Single submitter
- p.Glu644= Single submitter
- p.Glu644Lys Single submitter
- p.Glu694= Single submitter CSF1R-related disorder
- p.Glu705Lys Single submitter ⚠
- p.Glu751= Single submitter CSF1R-related disorder
- p.Glu825= Single submitter
- p.Glu847= Single submitter
- p.Glu912= Single submitter
- p.Glu941= Single submitter
- p.Glu943= Single submitter
- p.Glu955= Single submitter
- p.Glu955Lys Single submitter
- p.Gly137= Single submitter
- p.Gly161= Single submitter
- p.Gly182Cys Single submitter ⚠
- p.Gly316= Single submitter
- p.Gly340= Single submitter
- p.Gly436= Single submitter
- p.Gly44= Single submitter
- p.Gly46= Single submitter
- p.Gly494Ser Single submitter
- p.Gly504= Single submitter
- p.Gly690Ser Single submitter
- p.Gly714= Single submitter
- p.His151= Single submitter
- p.His253= Single submitter
- p.His623= Single submitter
- p.His655= Single submitter
- p.Ile222= Single submitter
- p.Ile222Met Single submitter ⚠
- p.Ile411= Single submitter
- p.Ile553= Single submitter
- p.Ile564= Single submitter CSF1R-related disorder
- p.Ile843= Single submitter
- p.Ile888= Single submitter
- p.Leu111Ile Single submitter
- p.Leu128= Single submitter
- p.Leu244= Single submitter
- p.Leu265= Single submitter
- p.Leu309= Single submitter
- p.Leu319= Single submitter
- p.Leu321= Single submitter
- p.Leu331= Single submitter CSF1R-related disorder
- p.Leu382= Single submitter
- p.Leu588= Single submitter
- p.Leu650= Single submitter
- p.Leu672= Single submitter
- p.Leu7= Single submitter
- p.Leu704= Single submitter
- p.Leu755= Single submitter
- p.Leu769= Single submitter
- p.Leu8= Single submitter
- p.Leu853= Single submitter
- p.Leu91Arg Single submitter
- p.Leu926= Single submitter
- p.Leu963= Single submitter
- p.Leu99= Single submitter
- p.Lys322= Single submitter CSF1R-related disorder
- p.Lys539= Single submitter
- p.Lys574= Single submitter
- p.Lys606Gln Single submitter ⚠
- p.Lys772= Single submitter
- p.Pro132= Single submitter
- p.Pro132Ala Single submitter ⚠
- p.Pro209= Single submitter
- p.Pro373= Single submitter
- p.Pro54Ser Single submitter
- p.Pro566= Single submitter
- p.Pro658= Single submitter
- p.Pro689= Single submitter
- p.Pro693= Single submitter
- p.Pro824= Single submitter
- p.Pro927= Single submitter
- p.Ser155= Single submitter
- p.Ser157= Single submitter
- p.Ser157Leu Single submitter CSF1R-related disorder ⚠
- p.Ser172= Single submitter
- p.Ser367= Single submitter
- p.Ser405= Single submitter
- p.Ser490= Single submitter
- p.Ser493Arg Single submitter
- p.Ser524= Single submitter
- p.Ser560= Single submitter
- p.Ser62= Single submitter
- p.Ser632= Single submitter
- p.Ser686_Pro693del Single submitter
- p.Ser730= Single submitter
- p.Ser733= Single submitter
- p.Ser736= Single submitter CSF1R-related disorder
- p.Ser759= Single submitter
- p.Ser826= Single submitter
- p.Ser887= Single submitter
- p.Ser928= Single submitter
- p.Ser938= Single submitter
- p.Thr152= Single submitter
- p.Thr359= Single submitter
- p.Thr37= Single submitter
- p.Thr416= Single submitter
- p.Thr438= Single submitter
- p.Thr467= Single submitter
- p.Thr467Met Single submitter ⚠
- p.Thr476= Single submitter
- p.Thr567= Single submitter
- p.Thr600= Single submitter
- p.Thr654= Single submitter
- p.Thr902= Single submitter
- p.Thr952Ile Single submitter
- p.Trp50Leu Single submitter
- p.Tyr154= Single submitter
- p.Tyr561= Single submitter
- p.Tyr699= Single submitter
- p.Tyr723= Single submitter
- p.Tyr886= Single submitter
- p.Val116= Single submitter
- p.Val223= Single submitter
- p.Val235= Single submitter
- p.Val315= Single submitter
- p.Val457= Single submitter
- p.Val474= Single submitter
- p.Val520= Single submitter
- p.Val597= Single submitter
- p.Val5Leu Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
Uncertain significance 412
Showing the top 300 by review status; the full set is in the sitemap.
- c.1510+5G>C Multiple submitters
- c.2654+12G>T Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.307+5G>A Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- c.*101T>C Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Ala299Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala770Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg150His Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Arg166Lys Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Arg41Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg549Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg579Gln Multiple submitters ⚠
- p.Arg710Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg727Gly Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Arg931_Ser939del Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids
- p.Asn153Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn854Lys Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
- p.Asp174Val Multiple submitters ⚠
- p.Asp565Asn Multiple submitters ⚠
- p.Asp871Glu Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Asp958Val Multiple submitters ⚠
- p.Gln173Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln874His Multiple submitters leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Glu628Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu825Gln Multiple submitters ⚠
- p.Glu945del Multiple submitters
- p.Gly585Val Multiple submitters ⚠
- p.Gly872Arg Multiple submitters ⚠
- p.Gly934_Ser935insGlyGly Multiple submitters Inborn genetic diseases
- p.Gly936_Ser938dup Multiple submitters
- p.Ile215Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu60Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys627Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met523Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro209Leu Multiple submitters ⚠
- p.Ser47Arg Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Ser638Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser730Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser929_Ser935del Multiple submitters
- p.Ser939_Ser940del Multiple submitters
- p.Thr363Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr467Ala Multiple submitters leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Thr567Met Multiple submitters ⚠
- p.Thr85Ile Multiple submitters ⚠
- p.Thr85Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr424His Multiple submitters Inborn genetic diseases ⚠
- p.Val117Met Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
- p.Val223Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val325Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val468Leu Multiple submitters brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
- c.1198+19C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.1627-3C>T Single submitter
- c.1753+15C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.1754-3C>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.1754-4_1754-3delinsAG Single submitter
- c.1859-119G>A Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- c.1969+5G>C Single submitter
- c.2132+5C>A Single submitter
- c.2319+3G>A Single submitter
- c.2319+7A>G Single submitter
- c.2554+3G>A Single submitter CSF1R-related disorder
- c.2654+6C>T Single submitter
- c.2763+7G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.2764-16T>A Single submitter
- c.307+3G>T Single submitter
- c.592+3G>A Single submitter
- c.592+4C>T Single submitter
- c.593-5C>T Single submitter
- c.730-5T>G Single submitter
- c.890-3C>T Single submitter
- c.-101G>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-102C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-115C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-181+13283G>T Single submitter
- c.-181+2T>G Single submitter
- c.-199G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-200C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.-2C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*116C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*156G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*230C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*232C>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*233C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*249A>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*263G>C Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*35_*36delinsTC Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*4G>T Single submitter
- c.*530C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*531C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*539C>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*561C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*56G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*5T>C Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*619G>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*715C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*733G>A Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*749C>T Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- c.*768T>G Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.934GS[3] Single submitter
- p.Ala123Val Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala327Ser Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala444Thr Single submitter ⚠
- p.Ala503= Single submitter
- p.Ala521Thr Single submitter ⚠
- p.Ala527Val Single submitter ⚠
- p.Ala599Pro Single submitter ⚠
- p.Ala599Val Single submitter ⚠
- p.Ala622Val Single submitter ⚠
- p.Ala770Val Single submitter cerebral arterial disease ⚠
- p.Ala780Pro Single submitter ⚠
- p.Ala780Thr Single submitter Inborn genetic diseases ⚠
- p.Ala781Gly Single submitter ⚠
- p.Ala823Gly Single submitter ⚠
- p.Ala876Asp Single submitter ⚠
- p.Ala914Pro Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg142His Single submitter ⚠
- p.Arg146Trp Single submitter Inborn genetic diseases ⚠
- p.Arg184Thr Single submitter ⚠
- p.Arg192Trp Single submitter ⚠
- p.Arg370Cys Single submitter ⚠
- p.Arg370His Single submitter ⚠
- p.Arg370Ser Single submitter ⚠
- p.Arg378Gly Single submitter Inborn genetic diseases ⚠
- p.Arg378His Single submitter ⚠
- p.Arg390Lys Single submitter Inborn genetic diseases ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg399Gly Single submitter ⚠
- p.Arg486Gly Single submitter ⚠
- p.Arg727Lys Single submitter ⚠
- p.Arg816Cys Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Arg931Lys Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn240Ser Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Asn241del Single submitter
- p.Asn264Lys Single submitter ⚠
- p.Asn282Lys Single submitter ⚠
- p.Asn308Thr Single submitter Inborn genetic diseases ⚠
- p.Asn320Asp Single submitter ⚠
- p.Asn412Asp Single submitter ⚠
- p.Asn428Lys Single submitter ⚠
- p.Asn489Ser Single submitter ⚠
- p.Asn572Asp Single submitter Inborn genetic diseases ⚠
- p.Asn734His Single submitter Inborn genetic diseases ⚠
- p.Asn788Ser Single submitter ⚠
- p.Asn925Asp Single submitter Inborn genetic diseases ⚠
- p.Asn968Ser Single submitter Inborn genetic diseases ⚠
- p.Asp120Asn Single submitter ⚠
- p.Asp230Gly Single submitter ⚠
- p.Asp234Asn Single submitter ⚠
- p.Asp266Gly Single submitter ⚠
- p.Asp269Tyr Single submitter ⚠
- p.Asp344Phe Single submitter
- p.Asp439Ala Single submitter CSF1R-related disorder ⚠
- p.Asp511Ala Single submitter ⚠
- p.Asp63Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp670Asn Single submitter ⚠
- p.Asp712= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Asp712Gly Single submitter ⚠
- p.Asp735Asn Single submitter ⚠
- p.Asp735Tyr Single submitter ⚠
- p.Asp829His Single submitter ⚠
- p.Asp837Asn Single submitter Inborn genetic diseases ⚠
- p.Asp837Val Single submitter ⚠
- p.Asp871Val Single submitter Inborn genetic diseases ⚠
- p.Asp917Glu Single submitter Inborn genetic diseases ⚠
- p.Cys224Ser Single submitter ⚠
- p.Cys522Gly Single submitter ⚠
- p.Cys653Arg Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Cys666Ser Single submitter ⚠
- p.Cys666Tyr Single submitter ⚠
- p.Cys907del Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1
- p.Cys954Arg Single submitter ⚠
- p.Cys972Trp Single submitter ⚠
- p.Gln113Glu Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Gln18Glu Single submitter ⚠
- p.Gln249Lys Single submitter ⚠
- p.Gln307Glu Single submitter ⚠
- p.Gln346Arg Single submitter ⚠
- p.Gln426Arg Single submitter ⚠
- p.Gln469His Single submitter Inborn genetic diseases ⚠
- p.Gln568Arg Single submitter ⚠
- p.Gln583His Single submitter ⚠
- p.Gln761Glu Single submitter ⚠
- p.Gln77Glu Single submitter Inborn genetic diseases ⚠
- p.Gln956Ter Single submitter
- p.Gln965Pro Single submitter Inborn genetic diseases ⚠
- p.Gln970Lys Single submitter ⚠
- p.Glu119Asp Single submitter Inborn genetic diseases ⚠
- p.Glu119Gly Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu24Gln Single submitter ⚠
- p.Glu297Gln Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Glu312Lys Single submitter ⚠
- p.Glu348Gly Single submitter Inborn genetic diseases ⚠
- p.Glu443Lys Single submitter ⚠
- p.Glu475Asp Single submitter ⚠
- p.Glu49Lys Single submitter Inborn genetic diseases ⚠
- p.Glu512Val Single submitter ⚠
- p.Glu554Asp Single submitter ⚠
- p.Glu573Lys Single submitter ⚠
- p.Glu598Lys Single submitter ⚠
- p.Glu633Gln Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Glu633Gly Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Glu680Lys Single submitter ⚠
- p.Glu694Lys Single submitter ⚠
- p.Glu725Gly Single submitter ⚠
- p.Glu739Asp Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Glu739Lys Single submitter ⚠
- p.Glu86Gln Single submitter Inborn genetic diseases ⚠
- p.Glu896Val Single submitter Inborn genetic diseases ⚠
- p.Glu912Lys Single submitter ⚠
- p.Glu916Gln Single submitter ⚠
- p.Glu920Ala Single submitter ⚠
- p.Glu943Gly Single submitter ⚠
- p.Glu945Lys Single submitter ⚠
- p.Glu949Lys Single submitter Inborn genetic diseases ⚠
- p.Gly137Asp Single submitter Inborn genetic diseases ⚠
- p.Gly137Val Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly274Ser Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Gly316Arg Single submitter ⚠
- p.Gly333Arg Single submitter ⚠
- p.Gly35Glu Single submitter ⚠
- p.Gly388Cys Single submitter ⚠
- p.Gly436Ser Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Gly492Ala Single submitter ⚠
- p.Gly492Arg Single submitter ⚠
- p.Gly504Arg Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Gly558Ser Single submitter Inborn genetic diseases ⚠
- p.Gly591Ala Single submitter Inborn genetic diseases ⚠
- p.Gly657Asp Single submitter ⚠
- p.Gly669Asp Single submitter ⚠
- p.Gly80Trp Single submitter ⚠
- p.Gly872Val Single submitter ⚠
- p.Gly88Glu Single submitter Inborn genetic diseases ⚠
- p.Gly933_Ser938del Single submitter
- p.Gly933_Ser939del Single submitter
- p.Gly934Val Single submitter ⚠
- p.Gly936_Ser937insGly Single submitter
- p.His239Asn Single submitter ⚠
- p.His345Tyr Single submitter ⚠
- p.His362Cys Single submitter
- p.His362Tyr Single submitter ⚠
- p.His479Asn Single submitter Inborn genetic diseases ⚠
- p.His506= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.His506Arg Single submitter ⚠
- p.His643Gln Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis ⚠
- p.His703Arg Single submitter ⚠
- p.Ile189Asn Single submitter ⚠
- p.Ile189Met Single submitter Inborn genetic diseases ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile310Asn Single submitter ⚠
- p.Ile310Ser Single submitter Inborn genetic diseases ⚠
- p.Ile411Thr Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Ile553del Single submitter
- p.Ile564Val Single submitter ⚠
- p.Ile906Thr Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Ile97Val Single submitter ⚠
- p.Leu10del Single submitter
- p.Leu366Ile Single submitter Inborn genetic diseases ⚠
- p.Leu366Phe Single submitter Inborn genetic diseases ⚠
- p.Leu396Ile Single submitter ⚠
- p.Leu417Ile Single submitter ⚠
- p.Leu514His Single submitter ⚠
- p.Leu514Val Single submitter Inborn genetic diseases ⚠
- p.Leu528Ser Single submitter ⚠
- p.Leu532Gln Single submitter ⚠
- p.Leu537_Tyr538insLeu Single submitter
- p.Leu537Phe Single submitter ⚠
- p.Leu537Ser Single submitter ⚠
- p.Leu582Pro Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Leu640Val Single submitter Inborn genetic diseases ⚠
- p.Leu671Pro Single submitter ⚠
- p.Leu786Phe Single submitter ⚠
- p.Leu844Pro Single submitter leukoencephalopathy, hereditary diffuse, with spheroids ⚠
- p.Leu860Pro Single submitter ⚠
- p.Lys350Thr Single submitter ⚠
- p.Lys606Glu Single submitter CSF1R-related disorder ⚠
- p.Lys616Gln Single submitter ⚠
- p.Lys627del Single submitter brain abnormalities, neurodegeneration, and dysosteosclerosis
- p.Lys707Asn Single submitter ⚠
- p.Lys707Glu Single submitter ⚠
- p.Lys744Glu Single submitter ⚠
- p.Lys772Arg Single submitter ⚠
- p.Lys793Asn Single submitter ⚠
- p.Met181Arg Single submitter ⚠
- p.Met181Thr Single submitter ⚠
- p.Met291Val Single submitter ⚠
- p.Met726Ile Single submitter Inborn genetic diseases ⚠
- p.Met766Val Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Met804Val Single submitter ⚠
- p.Met889Thr Single submitter leukoencephalopathy, diffuse hereditary, with spheroids 1 ⚠
- p.Phe118= Single submitter leukoencephalopathy, hereditary diffuse, with spheroids
- p.Phe233Tyr Single submitter ⚠