| | | Single nucleotide variant (missense variant) | 3 beta-Hydroxysteroid dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | HMGCS2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | |
| | | 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) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Lesinurad response +4 more | GLikely benign; drug response; other |
| | | Single nucleotide variant (intron variant) | Primary hyperoxaluria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (nonsense) | Congenital bile acid synthesis defect 1 | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (splice donor variant) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital bile acid synthesis defect 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital bile acid synthesis defect 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Deletion (intron variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital bile acid synthesis defect 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |