| | CASD1, SGCE (W382R +9 more) | Single nucleotide variant (missense variant) | not provided | |
| | CASD1, SGCE (R378S +9 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | CASD1, SGCE (T257P +4 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CASD1, SGCE (R237* +4 more) | Single nucleotide variant (nonsense) | Myoclonic dystonia 11 +1 more | |
| | CASD1, SGCE (D206G +4 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 +2 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (L146M +4 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (I131V +4 more) | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 +2 more | |
| | CASD1, SGCE (P126L +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | CASD1, SGCE (R102* +4 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |