ClinVar Miner

List of variants reported as likely pathogenic for Carnitine palmitoyltransferase II deficiency, lethal neonatal

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000098.3(CPT2):c.1046dup (p.Asn349fs) rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) rs761438840
NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) rs1057517507
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) rs1057517477
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) rs1057517517
NM_000098.3(CPT2):c.1645+2T>G rs1057517473
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) rs1057517510
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) rs755830520
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493
NM_000098.3(CPT2):c.95del (p.Gly32fs) rs1057517494

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.