NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided|CSF1R-related disorder|Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2026→ Residue 794
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|Leukoencephalopathy, diffuse hereditary, with spheroids 1|not provided|CSF1R-related disorder
★★☆☆2025→ Residue 782
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided|Leukoencephalopathy, diffuse hereditary, with spheroids 1|CSF1R-related disorder
★★☆☆2025→ Residue 589
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided|CSF1R-related disorder|Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2025→ Residue 777
NM_001288705.3(CSF1R):c.2026C>T (p.Arg676Ter)Pathogenic
not provided|Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2025→ Residue 676
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided|Brain abnormalities, neurodegeneration, and dysosteosclerosis;Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2025→ Residue 782
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided
★★☆☆2025→ Residue 781
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys)Pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided|Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2025→ Residue 633
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)Pathogenic
Brain abnormalities, neurodegeneration, and dysosteosclerosis
★★☆☆2024→ Residue 540
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu)Likely pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2023→ Residue 591
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)Pathogenic
Inborn genetic diseases|Brain abnormalities, neurodegeneration, and dysosteosclerosis|not provided|Hereditary diffuse leukoencephalopathy with spheroids
★★☆☆2023→ Residue 481
NM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val)Likely pathogenic
Leukoencephalopathy, diffuse hereditary, with spheroids 1
★★☆☆2023→ Residue 780
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter)Likely pathogenic
Hereditary diffuse leukoencephalopathy with spheroids|not provided
★★☆☆2019→ Residue 877
NM_001288705.3(CSF1R):c.1937T>A (p.Ile646Asn)Likely pathogenic
Leukoencephalopathy, diffuse hereditary, with spheroids 1
★☆☆☆2026→ Residue 646
NM_001288705.3(CSF1R):c.1924C>T (p.Gln642Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 642
NM_001288705.3(CSF1R):c.2405A>G (p.Asp802Gly)Likely pathogenic
Brain abnormalities, neurodegeneration, and dysosteosclerosis
★☆☆☆2025→ Residue 802
NM_001288705.3(CSF1R):c.2213_2214dup (p.Glu739fs)Pathogenic
not provided
★☆☆☆2025→ Residue 739
NM_001288705.3(CSF1R):c.1990G>A (p.Glu664Lys)Likely pathogenic
not provided
★☆☆☆2025→ Residue 664
NM_001288705.3(CSF1R):c.161dup (p.Ser55fs)Pathogenic
not provided
★☆☆☆2025→ Residue 55
NM_001288705.3(CSF1R):c.1991A>T (p.Glu664Val)Likely pathogenic
Leukoencephalopathy, diffuse hereditary, with spheroids 1
★☆☆☆2025→ Residue 664