| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | 9q34.3 microduplication-related neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Kleefstra syndrome 1 | |
| | | Deletion | Familial aplasia of the vermis +3 more | GConflicting classifications of pathogenicity |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Deletion | Rafiq syndrome | |
| | | Duplication | Rafiq syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Cryptorchidism +1 more | |
| | | Duplication | Intellectual disability, autosomal dominant 8 +2 more | |
| | | Deletion | Epilepsy +1 more | |
| | | Deletion | Kleefstra syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Deletion | Developmental and epileptic encephalopathy, 14 +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Microcephaly | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | mTOR Inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860789, LOC126860790 +324 more | Copy number gain | See cases | |
| | LOC108254695, LOC108281113 +176 more | Copy number loss | See cases | |
| | LOC130003003, LOC130003004 +417 more | Copy number gain | See cases | |
| | LOC130003086, LOC130003087 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC112637025, LOC112639999 +656 more | Copy number gain | See cases | |
| | LOC130003068, LOC130003069 +392 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |