| | | Copy number loss | West syndrome | |
| | | Copy number loss | Epilepsy of infancy with migrating focal seizures | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Seizures, benign familial infantile, 3 | |
| | | Single nucleotide variant (intron variant) | Seizures, benign familial infantile, 3 | |
| | | Deletion | Generalized epilepsy with febrile seizures plus, type 7 +2 more | |
| | LOC129935046, LOC129935047 +17 more | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC120977013, LOC129935043 +2 more | Duplication | Seizures, benign familial infantile, 3 +1 more | |
| | LOC120977013, LOC129935043 +2 more | Duplication | Seizures, benign familial infantile, 3 +1 more | |
| | | Deletion | Neuropathy, hereditary sensory and autonomic, type 2A +2 more | |
| | | Deletion (intron variant) | Seizures, benign familial infantile, 3 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Seizures, benign familial infantile, 3 +1 more | |
| | | Duplication (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Seizures, benign familial infantile, 3 | |
| | | Single nucleotide variant (intron variant) | Seizures, benign familial infantile, 3 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935070, LOC129935071 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | BAZ2B, BAZ2B-AS1 +197 more | Copy number loss | See cases | |