| | | Single nucleotide variant (missense variant) | Inguinal hernia +5 more | |
| | | Single nucleotide variant (nonsense) | Cleft palate +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Cryptorchidism +17 more | |
| | | Duplication (frameshift variant) | Cleft palate +2 more | |
| | | Deletion (frameshift variant) | Cleft palate +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +2 more | |
| | INPP1, LOC129935252 (Q24fs) | Deletion (frameshift variant) | Cleft palate +1 more | |
| | | Single nucleotide variant (missense variant) | Retinopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperphosphatasia with intellectual disability syndrome 4 +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Low-set ears +9 more | |
| | | Duplication (frameshift variant) | Cryptorchidism +17 more | |
| | | Single nucleotide variant (nonsense) | Sensorineural hearing loss disorder +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sensorineural hearing loss disorder +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sensorineural hearing loss disorder +19 more | |
| | | Single nucleotide variant (nonsense +1 more) | Sensorineural hearing loss disorder +20 more | |
| | | Deletion (frameshift variant +1 more) | See cases +7 more | |
| | | Single nucleotide variant (nonsense +2 more) | Global developmental delay +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Tetralogy of Fallot +2 more | |
| | | Deletion (inframe_deletion +1 more) | Myopia +7 more | |
| | | Microsatellite (frameshift variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Orofacial cleft +1 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cleft palate +1 more | |
| | | Deletion (inframe deletion +1 more) | Intellectual disability +5 more | |
| | | Translocation | Isolated Pierre-Robin syndrome +14 more | |
| | | Translocation | High myopia +14 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral palsy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cleft palate +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cleft palate +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Skeletal dysplasia +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autism +19 more | |
| | | Duplication (inframe_insertion) | Pulmonic stenosis +28 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Common Variable Immune Deficiency, Dominant +23 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant +1 more) | Popliteal pterygium syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Chromosome 2q32-q33 deletion syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Absent epiphyses +20 more | GPathogenic/Likely pathogenic |