NKI/ AvL Amsterdam
| naam | gen | details aandoening (OMIM) |
| Ataxia telangiectasia | ATM | 208900 |
| Borst- en ovariumkanker, erfelijk (BRCA1) | BRCA1 | 604370 |
| Borst- en ovariumkanker, erfelijk (BRCA2) | BRCA2 | 612555 |
| Fanconi anemie type O | RAD51C | 613390 |
| LiFraumeni syndroom | TP53 | 151623 |
| Lynch Syndroom (HNPCC) | MSH2 | 120435 |
| Lynch Syndroom (HNPCC) | MLH1 | 609310 |
| Lynch Syndroom (HNPCC) | MSH6 | 600678 |
| Lynch Syndroom (HNPCC), microsatelliet instabiliteit | n.v.t. | n.v.t. |
| Lynch Syndroom (HNPCC), Somatische MLH1 promoter methylering | MLH1 | 609310 |
| Polyposis, MUTYH associated (MAP) | MUTYH | 608456 |