| | HBA-LCR, LOC121530606 +14 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Leukodystrophy, hypomyelinating, 21 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | LOC121530606, LOC130058084 +7 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 21 | |
| | | 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) | Leukodystrophy, hypomyelinating, 21 | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 21 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (inframe_deletion) | Leukodystrophy, hypomyelinating, 21 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Epilepsy, familial focal, with variable foci 3 | |
| | | Deletion | Epilepsy, familial focal, with variable foci 3 | |
| | | Deletion | Epilepsy, familial focal, with variable foci 3 | |
| | | Deletion | Epilepsy, familial focal, with variable foci 3 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |