| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Motor delay +4 more | |
| | | Single nucleotide variant (intron variant) | TMEM147-related disorder | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Duplication (frameshift variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | TMEM147-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |