| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | SMCHD1-related disorder | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Arrhinia with choanal atresia and microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |