| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 palmitoyltransferase II deficiency +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 (5 prime UTR variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency +4 more | |
| | | Duplication (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Insertion (nonsense) | Carnitine palmitoyl transferase II deficiency, severe infantile form +3 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 (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (G13fs) | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +1 more | GPathogenic/Likely pathogenic |
| | CPT2, LOC129930561 (V16fs) | Duplication (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (S22fs) | Duplication (frameshift variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (G13del) | Deletion (inframe_deletion) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | CPT2, LOC129930561 (G13fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form | |
| | | 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 (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CPT2, LOC129930561 (L25fs) | Duplication (frameshift variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +2 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +5 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | 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 | |
| | CPT2, LOC129930561 (S22fs) | Duplication (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 | |
| | | Single nucleotide variant (missense 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 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (L25fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, severe infantile form | |
| | | 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 (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (S26fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | GPathogenic/Likely pathogenic |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyltransferase II deficiency | |
| | | 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 palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | CPT2, LOC129930561 (G32fs) | Deletion (frameshift variant) | Carnitine palmitoyl transferase II deficiency, myopathic form +2 more | |
| | CPT2, LOC129930561 (Q33fs) | Deletion (frameshift variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Carnitine palmitoyl transferase II deficiency, neonatal form +4 more | |
| | | Single nucleotide variant (synonymous variant) | Carnitine palmitoyltransferase II deficiency | |
| | | Single nucleotide variant (nonsense) | Carnitine palmitoyl transferase II deficiency, severe infantile form | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more | |
| | CPT2, LOC129930561 (Q36fs) | Duplication (frameshift variant) | Encephalopathy, acute, infection-induced, susceptibility to, 4 | |
| | CPT2, LOC129930561 (S38fs) | Microsatellite (frameshift variant) | Carnitine palmitoyltransferase II deficiency +5 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 (missense variant) | Carnitine palmitoyltransferase II deficiency +5 more | |
| | | 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 palmitoyltransferase II deficiency +6 more | |