| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 42 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Migraine, familial hemiplegic, 1 | |
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