| | LOC121740684, LOC121740685 +4735 more | Copy number loss | See cases | |
| | LOC129998788, LOC129998789 +227 more | Copy number loss | See cases | |
| | LOC110121296, LOC111365161 +110 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129998824, LOC129998825 +5 more | Deletion | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (3 prime UTR variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P437L +11 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (G333fs +10 more) | Duplication (frameshift variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (T332I +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (T391A +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (Q329* +10 more) | Single nucleotide variant (nonsense) | not provided | |
| | CASD1, SGCE (Q429E +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (Q387R +10 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CASD1, SGCE (I417T +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (Q387H +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (T374S +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (H331P +10 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | | Microsatellite (intron variant) | Myoclonic dystonia 11 +3 more | |
| | | Deletion (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 +2 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic dystonia 11 +1 more | |
| | | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic dystonia 11 | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (intron variant) | Myoclonic dystonia 11 | |
| | | Duplication (splice donor variant) | Myoclonic dystonia 11 | |
| | | Deletion | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (T416M +9 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (L413S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P412S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (Y365C +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (N314S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (D395fs +9 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | CASD1, SGCE (T303fs +9 more) | Microsatellite (frameshift variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CASD1, SGCE (L301S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P300S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P308R +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P399L +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | GConflicting classifications of pathogenicity |
| | CASD1, SGCE (P349S +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (P299A +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (E296K +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (V302A +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (V393M +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |
| | CASD1, SGCE (V298L +9 more) | Single nucleotide variant (missense variant) | Myoclonic dystonia 11 +1 more | |
| | CASD1, SGCE (P288fs +9 more) | Deletion (frameshift variant) | Myoclonic dystonia 11 | |
| | | Single nucleotide variant (synonymous variant) | Myoclonic dystonia 11 | |