| | CASD1, SGCE (Q387R +10 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CASD1, SGCE (L343R +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | CASD1, SGCE (V346M +9 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CASD1, SGCE (D316V +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 +1 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (N156Y +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CASD1, SGCE (R154H +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CASD1, SGCE (A186T +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | SGCE, CASD1 (I166V +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CASD1, SGCE (R102S +4 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | CASD1, SGCE (I131V +4 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (R97* +4 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | CASD1, SGCE (D18N +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (K79R +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |