ClinVar Miner

Variants in gene CPT1A with conflicting interpretations "pathogenic" and "pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
Download table as spreadsheet
HGVS dbSNP
NM_001031847.2(CPT1A):c.1575+533_1575+534del rs1169875761
NM_001031847.2(CPT1A):c.948delG (p.Ile317Serfs) rs80356800
NM_001876.3(CPT1A):c.(?_1744)_2107del (p.(?))
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782

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.