ClinVar Miner

List of variants in gene SMAD4 reported as likely benign for Myhre syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_005359.5(SMAD4):c.*4587_*4590delGAGA rs374333786
NM_005359.5(SMAD4):c.*6586C>T rs534182161
NM_005359.5(SMAD4):c.*6588C>G rs186324049
NM_005359.6(SMAD4):c.*1169_*1173del rs138404813
NM_005359.6(SMAD4):c.*2968del rs574286440
NM_005359.6(SMAD4):c.*3878dup rs373831598
NM_005359.6(SMAD4):c.*4867dup rs571773833
NM_005359.6(SMAD4):c.*6353del rs573785159
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) rs751154230
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484

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.