ClinVar Miner

List of variants reported as likely benign for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
NM_001365902.3(NFIX):c.843C>T (p.Ile281=)
NM_002501.4(NFIX):c.1143C>T (p.Ser381=) rs777733912
NM_002501.4(NFIX):c.117G>A (p.Lys39=) rs148229471
NM_002501.4(NFIX):c.138G>A (p.Lys46=) rs1599737654
NM_002501.4(NFIX):c.183G>A (p.Leu61=) rs369196245
NM_002501.4(NFIX):c.252G>T (p.Arg84=) rs769513682
NM_002501.4(NFIX):c.309C>T (p.Cys103=) rs376885081
NM_002501.4(NFIX):c.560-6C>T rs1008207585
NM_002501.4(NFIX):c.600G>A (p.Ala200=) rs367591626
NM_002501.4(NFIX):c.787C>T (p.Arg263Trp) rs1568316909

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.