| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Brachyolmia-amelogenesis imperfecta syndrome | |
| | | Single nucleotide variant (missense variant) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | not provided +1 more | |
Click to view in NCBI Gene