List of variants in gene CSF1R reported as pathogenic for Brain abnormalities, neurodegeneration, and dysosteosclerosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu)	rs1351319114	0.00001
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)	rs917027829
NM_001288705.3(CSF1R):c.1620T>A (p.Tyr540Ter)	rs1757862455
NM_001288705.3(CSF1R):c.1754-1G>C	rs1561913526
NM_001288705.3(CSF1R):c.1859-119G>A	rs1561912628
NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del)	rs1554101963
NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln)	rs184499252
NM_001288705.3(CSF1R):c.1969+115_1969+116del	rs1581289103
NM_001288705.3(CSF1R):c.2549C>A (p.Ser850Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.