| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CASD1, SGCE (Q352K +4 more) | Single nucleotide variant (missense variant +1 more) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (L184P +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CASD1, SGCE (R102* +4 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CASD1, SGCE (F87L +3 more) | Single nucleotide variant (missense variant +1 more) | Myoclonic dystonia 11 | |
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