| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (intron variant) | Myoclonic dystonia 11 +3 more | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic dystonia 11 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | SGCE-related disorder | |
| | | Deletion (intron variant) | SGCE-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | CASD1, SGCE (L146M +4 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (R108H +4 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | CASD1, SGCE (E121D +4 more) | Single nucleotide variant (missense variant) | SGCE-related disorder | |
| | | Single nucleotide variant (intron variant) | SGCE-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | SGCE-related disorder +1 more | |
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