| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Duplication | Neuronal ceroid lipofuscinosis +3 more | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Developmental and epileptic encephalopathy, 33 +1 more | |
| | | Duplication | Dyskeratosis congenita, autosomal recessive 5 +1 more | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Deletion | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Duplication | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
Click to view in NCBI Gene