| | | Deletion (splice donor variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Deletion (frameshift variant) | Tooth agenesis, selective, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft 5 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Tooth agenesis, selective, 1 | |
| | LOC129992137, MSX1 (G28fs) | Duplication (frameshift variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 1 | |
| | LOC129992137, MSX1 (S111*) | Single nucleotide variant (nonsense) | Tooth agenesis, selective, 1 | |
| | | Single nucleotide variant (missense variant) | Tooth agenesis, selective, 1 | |