ClinVar Miner

List of variants reported as likely pathogenic for Danon disease by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) rs730880344
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.191delT (p.Val64Glufs) rs397516738
NM_002294.2(LAMP2):c.217_218insA (p.Thr73Asnfs) rs397516739
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) rs193922649
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) rs727504557
NM_002294.2:c.(?_929)_(1233_?)del

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.