ClinVar Miner

List of variants in gene ATP6AP2 reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614

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.