| | | Insertion (nonsense) | Carnitine palmitoyltransferase II deficiency +3 more | |
| | CPT2, LOC129930561 (Q33fs) | Deletion (frameshift variant) | not provided +5 more | |
| | CPT2, LOC129930561 (S38fs) | Microsatellite (frameshift variant) | Carnitine palmitoyltransferase II deficiency +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sinus tachycardia +13 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CPT2-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyltransferase II deficiency +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +3 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Duplication (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | CPT2-related condition +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyltransferase II deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more | GPathogenic/Likely pathogenic |