List of variants reported as pathogenic for Norman-Roberts syndrome

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005045.4(RELN):c.204C>G (p.Tyr68Ter)
NM_005045.4(RELN):c.265del (p.Leu88_Val89insTer)	rs2116670615
NM_005045.4(RELN):c.329dup (p.Gly111fs)	rs797045912
NM_005045.4(RELN):c.3711+2T>C
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter)	rs587780435
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs)	rs587780436
NM_005045.4(RELN):c.5530-1G>A	rs2117170464
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter)	rs797045915
NM_005045.4(RELN):c.5969+1G>A	rs869320767
NM_005045.4(RELN):c.7490+1G>A	rs587780437
NM_005045.4(RELN):c.8844-2A>G
NM_005045.4(RELN):c.9186del (p.Phe3062fs)
NM_005045.4:c.6524_6671del

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.