| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | CPT2, LOC129930561 (P50fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, neonatal form +2 more | |
| | CPT2, LOC129930561 (R51fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more | |
| | | Single nucleotide variant (missense variant) | See cases +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | 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 +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +6 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, neonatal form +1 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +4 more | |
| | | 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, neonatal form | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Deletion (frameshift variant) | not provided +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 palmitoyl transferase II deficiency, neonatal form | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +4 more | |
| | | Single nucleotide variant (missense variant) | Rhabdomyolysis +7 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Deletion (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Microsatellite (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more | |
| | | Duplication (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | GPathogenic/Likely pathogenic |
| | CPT2, LOC129930561 (G13del) | Deletion (inframe_deletion) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Carnitine palmitoyl transferase II deficiency, myopathic form +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +6 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |
| | | Single nucleotide variant (intron variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +6 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more | |