| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064154, LOC130064155 +625 more | Copy number gain | See cases | |
| | BORCS8, BORCS8-MEF2B (G107V) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (R98W) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (V87M) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (R85L) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (R85H) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (V82I) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (V74M) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (R55C) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (M53V) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (R40H) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (V30M) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (S29P) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (E27K) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (A25G) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (S20N) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | BORCS8, BORCS8-MEF2B (P4L) | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Copy number gain | not provided | |
| | | Deletion | Progressive myoclonic epilepsy type 8 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |