| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | |
| | LIPT2, LIPT2-AS1
+1 more (V56A) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | |
Click to view in NCBI Gene