ClinVar Miner

List of variants reported as pathogenic for Brody myopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
ATP2A1, 1-BP DEL, 437C
ATP2A1, IVS3DS, G-C, -2
NM_004320.4(ATP2A1):c.2025C>A (p.Cys675Ter) rs121918114
NM_004320.4(ATP2A1):c.2366C>T (p.Pro789Leu) rs121918115
NM_004320.4(ATP2A1):c.2464dup (p.Arg822Profs) rs751365374
NM_004320.4(ATP2A1):c.592C>T (p.Arg198Ter) rs121918113
NM_004320.4(ATP2A1):c.909_920delTGTGGCTGCCATinsACGGCATA (p.Val304Argfs) rs1555515558
NM_173201.3(ATP2A1):c.1491T>G (p.Tyr497Ter)
NM_173201.3(ATP2A1):c.1742_1743delCT (p.Ser581Cysfs) rs1421005631
NM_173201.3(ATP2A1):c.2464delC (p.Arg822Glyfs) rs751365374
NM_173201.3(ATP2A1):c.2758C>T (p.Gln920Ter) rs897301304
NM_173201.3(ATP2A1):c.57_60delTGAG (p.Ser19Argfs)

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.