| | LOC129935011, LOC129935012 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BAZ2B, BAZ2B-AS1 +197 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Epilepsy of infancy with migrating focal seizures | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | LOC129935046, LOC129935047 +17 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | West syndrome | |
| | LOC100506124, LOC102724058 +14 more | Duplication | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CSRNP3, LOC129935044 (G14S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 11 +3 more | |
| | | Deletion | Generalized epilepsy with febrile seizures plus, type 7 +1 more | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Developmental and epileptic encephalopathy, 11 +1 more | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number loss | Severe myoclonic epilepsy in infancy | |
| | | Deletion | Jeune thoracic dystrophy +1 more | |
| | | Copy number gain | Transverse facial cleft +3 more | |
| | | Copy number loss | Complex neurodevelopmental disorder | |
| | | Copy number loss | 2q24 microdeletion syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Developmental and epileptic encephalopathy, 11 +1 more | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Microcephaly | |
| | | Copy number gain | not provided | |
| | | Deletion | Epilepsy | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |