| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +1156 more | Copy number loss | See cases | |
| | LOC130066733, LOC130066734 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066879, LOC130066880 +568 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066848, LOC130066849 +482 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108254685, LOC108281139 +429 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066823, LOC130066824 +376 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066810, LOC130066811 +334 more | Copy number loss | See cases | |
| | LOC130066817, LOC130066818 +276 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | Unverricht-Lundborg syndrome +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 condition | |
| | | 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) | Progressive myoclonic epilepsy +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 | |