| | | Copy number loss | Specific learning disability | |
| | ADGRL1, ADGRL1-AS1 (R1173* +1 more) | Single nucleotide variant (nonsense) | Specific learning disability +2 more | |
| | ADGRL1, ADGRL1-AS1 (R1131* +1 more) | Single nucleotide variant (nonsense) | Specific learning disability +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Macrocephaly +6 more | |
| | | Copy number gain | Specific learning disability | |
| | | Duplication (frameshift variant) | Bilateral tonic-clonic seizure +1 more | |
| | | Single nucleotide variant (missense variant) | Language disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Specific learning disability +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Specific learning disability +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Specific learning disability +5 more | |
| | | Single nucleotide variant (missense variant) | Specific learning disability +4 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +5 more | |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +5 more | |
| | | Single nucleotide variant (missense variant) | Abnormal facial shape +5 more | |
| | | Deletion (frameshift variant) | Myoclonus +4 more | |
| | | Single nucleotide variant (nonsense) | Global developmental delay +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Obesity +9 more | |
| | | Deletion (3 prime UTR variant +1 more) | Specific learning disability +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Irregular hyperpigmentation +5 more | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +12 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Tall stature +2 more | |
| | | Single nucleotide variant (missense variant) | Specific learning disability | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Translocation | Telecanthus +3 more | |
| | | Translocation | Attention deficit hyperactivity disorder +29 more | |
| | | Translocation | Delayed speech and language development +15 more | |
| | | Translocation | Pectus excavatum +22 more | |
| | | Translocation | Specific learning disability +9 more | |
| | | Inversion | Seizure +1 more | |
| | | Translocation | Specific learning disability +2 more | |
| | | Translocation | Specific learning disability +7 more | |
| | | Translocation | Specific learning disability +4 more | |
| | | Translocation | Posteriorly placed tongue +17 more | |
| | | Inversion | Congenital finger flexion contractures +13 more | |
| | | Translocation | Attention deficit hyperactivity disorder +3 more | |
| | | Translocation | Specific learning disability +1 more | |
| | | Translocation | Muscular dystrophy +18 more | |
| | | Translocation | Increased overbite +9 more | |
| | | Translocation | Attention deficit hyperactivity disorder +18 more | |
| | | Translocation | Attention deficit hyperactivity disorder +10 more | |
| | | Translocation | Abnormality of vision +6 more | |
| | | Single nucleotide variant (nonsense) | Axillary freckling +9 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy +8 more | |
| | | Single nucleotide variant (missense variant) | Laron-type isolated somatotropin defect +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +11 more | |