| | | Single nucleotide variant (nonsense) | Deficiency of hydroxymethylglutaryl-CoA lyase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | |
| | | 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 | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Limb-girdle muscular dystrophy | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GLikely benign; drug response; other |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |