ClinVar Miner

Variants in gene MAN2B1 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587

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.