| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Odonto-onycho-dermal dysplasia +6 more | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene