| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Duplication (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (frameshift variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (frameshift variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (splice acceptor variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Duplication (frameshift variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Duplication (frameshift variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Microsatellite (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (splice donor variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (frameshift variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (synonymous variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (intron variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (nonsense) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Deletion (frameshift variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Duplication (frameshift variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant +1 more) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (missense variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Single nucleotide variant (splice donor variant) | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | | Deletion (inframe_deletion +1 more) | HMGCL-related condition | |
| | | Single nucleotide variant (intron variant) | HMGCL-related condition | |