ClinVar Miner

List of variants in gene RELN reported as pathogenic for Norman-Roberts syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_005045.4(RELN):c.329dup (p.Gly111fs) rs797045912
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.5587C>T (p.Gln1863Ter) rs797045915
NM_005045.4(RELN):c.5969+1G>A rs869320767
NM_005045.4(RELN):c.7490+1G>A rs587780437
RELN, 148-BP DEL
RELN, IVS37AS, G-A, -1

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.