| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
| | LOC121832793, LTBP3 (R992H +1 more) | Single nucleotide variant (missense variant) | Brachyolmia-amelogenesis imperfecta syndrome | |
| | | Single nucleotide variant (missense variant) | Brachyolmia-amelogenesis imperfecta syndrome +1 more | |
| | | Copy number gain | not provided | |
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