| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | HMGCS2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | HMGCS2, LOC122094910 (A32V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | HMGCS2, LOC122094910 (P30A) | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +2 more | |
| | HMGCS2, LOC122094910 (L23fs) | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |