| | | Single nucleotide variant (nonsense) | Abnormality of metabolism/homeostasis +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Deletion (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type I +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Propionic acidemia +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Multiple acyl-CoA dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis | |
| | | Deletion (frameshift variant +1 more) | Abnormality of metabolism/homeostasis +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more | |
| | | Duplication (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (nonsense) | Peroxisome biogenesis disorder 1A (Zellweger) +7 more | |
| | | Microsatellite (nonsense) | Cystic fibrosis | |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Sphingomyelin/cholesterol lipidosis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant +1 more) | Foveal hypoplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Abnormality of metabolism/homeostasis +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Microsatellite (frameshift variant) | GNPTAB-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (nonsense) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Abnormality of metabolism/homeostasis +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Abnormality of metabolism/homeostasis | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Seizure +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Abnormality of metabolism/homeostasis | |