| | | Copy number gain | See cases | |
| | PDE9A-AS1, PDXK +1160 more | Copy number gain | See cases | |
| | LOC130066843, LOC130066844 +1160 more | Copy number gain | See cases | |
| | LOC126653343, LOC126653344 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00315, LINC00316 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653350, LOC126653351 +1159 more | Copy number gain | See cases | |
| | LINC00111, LINC00112 +1160 more | Copy number gain | See cases | |
| | TSPEAR-AS1, TSPEAR-AS2 +1160 more | Copy number gain | See cases | |
| | LOC130066578, LOC130066579 +1159 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1157 more | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066717, LOC130066718 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125418051, LOC125418052 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066756, LOC130066757 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP12-3, KRTAP12-4 +1157 more | Copy number gain | See cases | |
| | LOC107403153, LOC107548109 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066735, LOC130066736 +1156 more | Copy number loss | See cases | |
| | LINC01424, LINC01436 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066759, LOC130066760 +586 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066735, LOC130066736 +340 more | Copy number loss | See cases | |
| | LOC130066806, LOC130066807 +334 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | KRTAP10-12, KRTAP10-2 +245 more | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant | Unverricht-Lundborg syndrome | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | Unverricht-Lundborg syndrome | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Unverricht-Lundborg syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Unverricht-Lundborg syndrome +1 more | |
| | | Duplication | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (stop lost) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Deletion (frameshift variant) | Progressive myoclonic epilepsy +1 more | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | CSTB-related disorder | |
| | | Microsatellite (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Unverricht-Lundborg syndrome | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Duplication (frameshift variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Progressive myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Progressive myoclonic epilepsy | |