ClinVar Miner

List of variants reported as pathogenic for Malan overgrowth syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NC_000019.9:g.(?_13106632)_(13428155_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NC_000019.9:g.(?_13186349)_(13189549_?)del
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_002501.4(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)
NM_002501.4(NFIX):c.303dup (p.Cys102fs)
NM_002501.4(NFIX):c.338_342dup (p.Arg116fs) rs797045056
NM_002501.4(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_002501.4(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)
NM_002501.4(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_002501.4(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_002501.4(NFIX):c.73del (p.Ala25fs) rs1135401802

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.