| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002651, STXBP1 (A8G) | Single nucleotide variant (missense variant +2 more) | STXBP1-related neurodevelopmental disorder | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Early Infantile Epileptic Encephalopathy, Autosomal Dominant | |
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