| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Episodic ataxia type 2 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +4 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 | |
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