| | | Single nucleotide variant (nonsense +1 more) | Astigmatism +7 more | |
| | LOC130065793, RAB5IF
+1 more (W25*) | Single nucleotide variant (nonsense +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Micrognathia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Reduced bone mineral density +18 more | |
| | | Microsatellite (nonsense) | Mandibuloacral dysplasia progeroid syndrome +10 more | |
| | | Single nucleotide variant (missense variant +4 more) | Congenital omphalocele +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory, type 2C +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +19 more | |
| | | Single nucleotide variant (missense variant) | Stereotypic movement disorder +22 more | |
| | | Single nucleotide variant (missense variant) | Immunoglobulin A deficiency 2 +11 more | |
| | LOC126806462, SATB2 (Q664*) | Single nucleotide variant (nonsense) | Microcephaly +6 more | |
| | | Single nucleotide variant (missense variant) | Clinodactyly +4 more | |
| | | Copy number loss | Intellectual disability, mild +7 more | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Copy number loss | Scoliosis +4 more | |
| | | Single nucleotide variant (nonsense) | Connective tissue disorder +2 more | |
| | | Deletion (frameshift variant +1 more) | Hypotonia +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +4 more | |
| | | Inversion | Hypertelorism +8 more | |
| | | Inversion | Short palpebral fissure +9 more | |
| | | Translocation | Hypotonia +10 more | |
| | | Inversion | Microtia +1 more | |
| | | Translocation | Short philtrum +28 more | |
| | | Inversion | Global developmental delay +14 more | |
| | | Inversion | Microcephaly +8 more | |
| | | Translocation | Hypertelorism +13 more | |
| | | Translocation | Movement disorder +12 more | |
| | | Translocation | Abnormality of the outer ear +10 more | |
| | | Deletion (frameshift variant) | Nager syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | Alkuraya-Kucinskas syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Clubfoot +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormal basal ganglia morphology +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Immune deficiency, familial variable +23 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | Skeletal dysplasia +20 more | GPathogenic/Likely pathogenic |