| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (genic upstream transcript variant) | Selective tooth agenesis +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Odonto-onycho-dermal dysplasia +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SchC6pf-Schulz-Passarge syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | SchC6pf-Schulz-Passarge syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | SchC6pf-Schulz-Passarge syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Odonto-onycho-dermal dysplasia +2 more | |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 4 +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 4 +2 more | |
Click to view in NCBI Gene