List of variants reported as likely pathogenic for perceptual disorders by Hadassah Hebrew University Medical Center

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_001292063.2(OTOG):c.2561+1del	rs1852533572
NM_016356.5(DCDC2):c.549dup (p.Val184fs)	rs1581640646
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)	rs1592671672
NM_144596.4(TTC8):c.265+1_265+2del	rs1595939517

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.