| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene