| | | Microsatellite (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Treacher Collins syndrome 1 | |
| | | Deletion | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | 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) | 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 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 1 | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | TCOF1-related disorder | |
| | | Deletion (frameshift variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (missense variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Duplication (frameshift variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TCOF1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | TCOF1-related disorder | |
| | | Single nucleotide variant (missense variant) | TCOF1-related disorder | |
| | | Deletion (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Duplication (frameshift variant) | Treacher Collins syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Indel (missense variant) | Treacher Collins syndrome 1 | |
| | | Deletion | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Duplication (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Duplication (frameshift variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 | |