List of variants in gene CPT2, LOC129930561 studied for Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.149C>A (p.Pro50His)	rs28936375	0.00022
NM_000098.3(CPT2):c.98del (p.Gln33fs)	rs917744011	0.00005
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn)	rs1057287341	0.00004
NM_000098.3(CPT2):c.103C>T (p.Leu35=)	rs2929073	0.00003
NM_000098.3(CPT2):c.135C>T (p.Tyr45=)	rs1645327989	0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	rs1374482155	0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs)	rs1057517493	0.00001
NM_000098.3(CPT2):c.85T>G (p.Ser29Ala)	rs1342928062	0.00001
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	rs754363068
NM_000098.3(CPT2):c.15G>C (p.Leu5=)	rs1443908294
NM_000098.3(CPT2):c.37_39del (p.Gly13del)	rs1553168847
NM_000098.3(CPT2):c.56G>C (p.Gly19Ala)
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
NM_000098.3(CPT2):c.67C>T (p.Arg23Trp)

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.