ClinVar Miner

List of variants reported as pathogenic for Brody myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_28835713)_(28915526_?)del
NC_000016.9:g.(?_28889973)_(28915546_?)del
NM_004320.5(ATP2A1):c.1491T>G (p.Tyr497Ter) rs1409892710
NM_004320.5(ATP2A1):c.1740_1741CT[1] (p.Ser581fs) rs1421005631
NM_004320.5(ATP2A1):c.2311G>T (p.Glu771Ter)
NM_004320.5(ATP2A1):c.2371C>T (p.Gln791Ter)
NM_004320.5(ATP2A1):c.2464del (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004320.5(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_004320.5(ATP2A1):c.53_56TGAG[1] (p.Ser19fs) rs770239154
NM_004320.5(ATP2A1):c.909_920delinsACGGCATA (p.Val304fs) rs1555515558

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.