| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (5 prime UTR variant) | ASCL1-related disorder | |
| | | Microsatellite (5 prime UTR variant) | ASCL1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Indel (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Phenylketonuria | |
| | | Deletion | Phenylketonuria | |
| | | Deletion | Phenylketonuria | |
| | | Deletion | Phenylketonuria | |
| | | Deletion | Phenylketonuria | |
| | | Deletion | Phenylketonuria | |
| | | Deletion (frameshift variant) | Phenylketonuria | |
| | | Single nucleotide variant (nonsense) | Phenylketonuria | |
| | | Deletion (frameshift variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Phenylketonuria | |
| | | Microsatellite (5 prime UTR variant) | ASCL1-related disorder | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Duplication (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Deletion (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Deletion (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Duplication (nonsense) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (synonymous variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |
| | | Single nucleotide variant (intron variant) | Phenylketonuria | |