| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Benign Neonatal Epilepsy +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
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