| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate carboxylase deficiency | |
| | | Deletion | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (nonsense) | Pyruvate carboxylase deficiency | |
| | | Deletion (frameshift variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (frameshift variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (nonsense) | Pyruvate carboxylase deficiency | |
| | | Deletion (inframe_indel) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (nonsense) | Pyruvate carboxylase deficiency | |
| | | Deletion (frameshift variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate carboxylase deficiency | |
| | | 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) | Inborn genetic diseases | |
| | | 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 +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | PC-related disorder | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (frameshift variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Microsatellite (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (missense variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Pyruvate carboxylase deficiency | |
| | | Deletion (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (intron variant) | Pyruvate carboxylase deficiency | |
| | | Single nucleotide variant (nonsense) | Pyruvate carboxylase deficiency | |