| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive spinocerebellar ataxia 12 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 28 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | not provided | |
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