ClinVar Miner

List of variants in gene POMGNT2 reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_032806.6(POMGNT2):c.1113C>T (p.Pro371=) rs772146015
NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=) rs143832191
NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=) rs1477248373
NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=) rs148890110
NM_032806.6(POMGNT2):c.30C>T (p.Leu10=) rs147920308
NM_032806.6(POMGNT2):c.422G>A (p.Arg141His) rs576598140
NM_032806.6(POMGNT2):c.438G>A (p.Pro146=) rs375314883
NM_032806.6(POMGNT2):c.528C>T (p.Phe176=) rs777276517
NM_032806.6(POMGNT2):c.561C>T (p.His187=) rs147429438
NM_032806.6(POMGNT2):c.576C>T (p.Phe192=) rs755626367
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) rs138980930
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889
NM_032806.6(POMGNT2):c.81G>A (p.Glu27=) rs201572917
NM_032806.6(POMGNT2):c.861G>A (p.Glu287=) rs187003222

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.