ClinVar Miner

List of variants in gene ATP6V0A2 reported as uncertain significance for Cutis laxa, recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_012463.3(ATP6V0A2):c.-243C>A rs886049058
NM_012463.4(ATP6V0A2):c.*2186_*2189del rs772714418
NM_012463.4(ATP6V0A2):c.*2344_*2346dup rs886049074
NM_012463.4(ATP6V0A2):c.*2984_*2986del rs886049075
NM_012463.4(ATP6V0A2):c.*60dup rs747772644
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296

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.