List of variants reported as likely pathogenic for Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	rs864309721
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)	rs797044870
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	rs1553196096
NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	rs1553196100
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	rs1553196134
NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	rs1553196539
NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)	rs1064795845
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	rs797044916

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.