| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, neonatal form +2 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (nonsense) | Encephalopathy, acute, infection-induced, susceptibility to, 4 | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Microsatellite (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Carnitine palmitoyl transferase II deficiency, neonatal form | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | CPT2-related disorder +14 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Microsatellite (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Single nucleotide variant (splice donor variant) | Carnitine palmitoyltransferase II deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Deletion (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Duplication (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency | |