| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Geleophysic dysplasia 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
Click to view in NCBI Gene