| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Deficiency of acetyl-CoA acetyltransferase +1 more | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of acetyl-CoA acetyltransferase | |
| | | Single nucleotide variant (missense variant) | ACAT1-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene