| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | LINC02057, LINC02101 +518 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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 provided | |
| | | 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 | |
| | LOC126807401, PLK2 (V388G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807401, PLK2 (D377G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807401, PLK2 (T336I +1 more) | Single nucleotide variant (missense variant) | Esophageal atresia +1 more | |
| | LOC126807401, PLK2 (L321fs +1 more) | Duplication (frameshift variant) | Hereditary breast ovarian cancer syndrome | |
| | LOC126807401, PLK2 (P286L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807401, PLK2 (K272R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |