| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CASD1, SGCE (A281P +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | CASD1, SGCE (V135D +4 more) | Single nucleotide variant (missense variant) | Myoclonus-dystonia syndrome | |
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