| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089226, LOC132089227 +1167 more | Copy number gain | See cases | |
| | CD74, LOC112997569 +43 more | Copy number gain | See cases | |
| | LOC129994988, LOC129994989 +1 more | Deletion | Treacher Collins syndrome 1 | |
| | LOC129994988, LOC129994989 +1 more | Deletion | Treacher Collins syndrome 1 | |
| | | Deletion | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Treacher Collins syndrome 1 | |
| | LOC129994989, TCOF1 (K1406T +5 more) | Single nucleotide variant (missense variant) | Treacher Collins syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Treacher Collins syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene